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Porphyria Cutanea Tarda (PCT) What it is and Isn't

Porphyria Cutanea Tarda (PCT)

This disease is the most common of the porphyrias and results from a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). PCT is essentially an acquired disease, but some individuals have a genetic (autosomal dominant) deficiency of UROD that contributes to development of PCT. These individuals are referred to as having "familial PCT". Most individuals with the inherited enzyme deficiency remain latent and never have symptoms.
PCT is one of the hepatic porphyrias. Large amounts of porphyrins build up in the liver when the disease is becoming active. The disease becomes active when acquired factors, such as iron, alcohol, Hepatitis C Virus (HCV), HIV, estrogens (used, for example, in oral contraceptives and prostate cancer treatment) and possibly smoking, combine to cause a deficiency of UROD in the liver. Hemochromatosis, an iron overload disorder, also can predispose individuals to PCT.

Symptoms

The symptoms of PCT are confined mostly to the skin. Blisters develop on sun-exposed areas of the skin, such as the hands and face. The skin in these areas may blister or peel after minor trauma. Increased hair growth, as well as darkening and thickening of the skin, may also occur. Neurological and abdominal symptoms are not characteristic of PCT.
Liver function abnormalities are common but are usually mild, although they sometimes progress to cirrhosis and even liver cancer. PCT is often associated with Hepatitis C infection, which can also cause these liver complications. However, liver tests are generally abnormal even in PCT patients without Hepatitis C infection.

Diagnosis

The preferred screening test for PCT is a measurement of porphyrins in plasma. This can differentiate PCT from Variegate Porphyria. The patterns of porphyrins in urine (predominately uroporphyrin and 7-carboxylate porphyrin) and feces (predominately isocoproporphyrin) help to confirm the diagnosis. The presence of an inherited deficiency of UROD can be demonstrated by measuring the enzyme in red blood cells and is present in about 20% of patients with PCT.

Treatment and Prognosis

PCT is the most treatable of the porphyrias. Treatment seems to be equally effective in familial and non-familial PCT. Factors that tend to activate the disease should be removed. The most widely recommended treatment is a schedule of repeated phlebotomies (removal of blood), with the aim of reducing iron in the liver. This actually reduces iron stores throughout the body. Usually, removal of only 5 to 6 pints of blood (one pint every one to two weeks) is sufficient, which indicates that iron stores are not excessively increased in most PCT patients. The best guides to response are measurements of serum ferritin and plasma porphyrins. Phlebotomies are stopped when the ferritin falls to -~20ng/ml. Another treatment approach is a regimen of low doses of either chloroquine (125mg twice weekly) or hydroxychloroquine (100mg twice weekly). Usual dosages of these drugs should not be used because they can cause transient but sometimes severe liver damage and worsening of photosensitivity in PCT patients. 
After treatment for PCT, periodic measurement of plasma porphyrins may be advised, especially if a contributing factor such as estrogen exposure is resumed.  If a recurrence does occur, it can be detected early and treated promptly. The treatment of PCT is almost always successful, and the prognosis is usually excellent.

PCT, Hepatitis C Virus and HIV

Because PCT is frequently associated with Hepatitis C Virus (HCV) infection, it is worth noting the issues involved in treating a patient with both PCT and HCV infection.
Infection with HCV is much more common than PCT, and most people with HCV do not have PCT. However, at least in some locations, as many as 80 percent of individuals with PCT are infected with HCV. Therefore, HCV needs to be added to the list of factors that can activate PCT alongside alcohol, iron and estrogens. Other hepatitis viruses are seldom implicated in PCT, and it is not known how HCV activates PCT.
There are several different viruses that cause hepatitis. A blood test for HCV infection has not been available for very long. HCV is most readily transmitted from one person to another by blood products. Although most people who are infected with HCV have a history of exposure to blood or needles contaminated with blood, in some cases it is not known how the infection was acquired. HCV (unlike the Hepatitis B Virus and HIV) is seldom transmitted by sexual contact. It is also not readily transmitted by casual contact with other people. Therefore, people infected with HCV are not hazardous unless they somehow expose others to their blood.
It is recommended that patients with PCT be tested for HCV infection. This is done by a blood test that detects antibodies to the virus. If HCV infection is found, it may not change the treatment of PCT (by phlebotomy or low-dose chloroquine). Treatment for PCT is highly successful even in patients with HCV. Therefore, it is reasonable to treat the PCT first and then look into treatment for HCV later.
There are reasons not to treat the HCV infection before treating the PCT. HCV treatment with alpha-interferon and ribavirin is available but is often not effective. Also, liver damage progresses slowly if at all in many people with HCV. However, once the PCT is in remission it is important to assess the amount of liver damage the virus has already caused and to have follow-up visits to a doctor to monitor the liver. In some cases it may be important to treat HCV infection to try and prevent progressive liver damage.
For more information please see the Healthcare Professionals section of our website.

Additional Reading about PCT:
Porphyria Cutanea Tarda
NORD gratefully acknowledges Ashwani K Singal, MD, MSc, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, for assistance in the preparation of this report.
Synonyms of Porphyria Cutanea Tarda
  • UROD deficiency
  • uroporphyrinogen decarboxylase deficiency
Subdivisions of Porphyria Cutanea Tarda
  • familial porphyria cutanea tarda (PCT type 2)
  • sporadic porphyria cutanea tarda (PCT type 1)
General Discussion
Summary
Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected skin is fragile and may peel or blister after minor trauma. Liver abnormalities may also occur. PCT is caused by deficient levels of an enzyme known as uroporphyrinogen decarboxylase (UROD). In approximately 75% to 80% of cases this deficiency is acquired (PCT type 1 or sporadic PCT); in the remaining cases, individuals have a genetic predisposition to developing the disorder, specifically a mutation in the UROD gene (PCT type 2 or familial PCT). Most individuals with this genetic mutation do not develop PCT; the mutation is a predisposing factor and additional factors are required for the development of the disorder in these individuals. These factors are called susceptibility factors and are required for the development of both sporadic and familial PCT. Generally, PCT develops in mid to late adulthood. In extremely rare cases, individuals have mutations in both UROD genes. This autosomal recessive form of familial PCT is known as hepatoerythropoietic porphyria (HEP). HEP occurs in childhood and is usually more severe than PCT types 1 or 2. NORD has a separate report on HEP.
Introduction
PCT belongs to a group of disorders known as the porphyrias. This group of at least seven disorders is characterized by abnormally high levels of porphyrins and porphyrin precursors due to deficiency of certain enzymes essential to the creation (synthesis) of heme, a part of hemoglobin and other hemoproteins. There are eight enzymes in the pathway for making heme and at least seven major forms of porphyria. The symptoms associated with the various forms of porphyria differ. It is important to note that people who have one type of porphyria do not develop any of the other types. Porphyrias are generally classified into two groups: the “hepatic” and “erythropoietic” types. Porphyrins and porphyrin precursors and related substances originate in excess amounts predominantly from the liver in the hepatic types and mostly from the bone marrow in the erythropoietic types. Porphyrias with skin manifestations are sometimes referred to as “cutaneous porphyrias.” The term “acute porphyria” is used to describe porphyrias that can be associated with sudden attacks of pain and other neurological symptoms. Most forms of porphyria are genetic inborn errors of metabolism. PCT is an acquired liver disease, in which some individuals have a genetic predisposition to developing the disorder.
Signs & Symptoms
The symptoms of PCT can vary greatly from one individual to another. Skin abnormalities characterize this disorder. Affected individuals are abnormally susceptible to damage of the skin from sunlight (photosensitivity). Extremely fragile skin that can peel or blister on minimal impact is common. Affected individuals may develop blistering skin lesions on areas of the skin that are frequently exposed to the sun such as the hands and face. These lesions may crust over.
Eventually, scarring may develop and affected skin may darken (hyperpigmentation) or fade (hypopigmentation) in color. Abnormal, excessive hair growth (hypertrichosis), especially on the face may also occur. The hair may be very fine or coarse and can differ in color. In some patients, their hair may grow, thicken and darken. Small bumps with a distinct white head (milia) may also develop, especially on the backs of the hands.
In some cases, the skin in affected areas may thickened and harden, resembling a condition known as sclerosis, this is sometimes known as pseudosclerosis. Pseudosclerosis in individuals with PCT appears as scattered, waxy, harden patches or plaques of skin.
Liver abnormalities may develop in some affected individuals including the accumulation of iron in the liver (hepatic siderosis), the accumulation of fat in the liver (steatosis), inflammation of certain parts of the liver (portal triaditis), and thickening and scarring around the portal vein (periportal fibrosis). Affected individuals may be at a greater risk than the general population of developing scarring of the liver (cirrhosis) or liver cancer known as hepatocellular carcinoma. Advanced liver disease is uncommon, except in older individuals with recurrent disease. In some cases, liver disease is due to an associated condition such as hepatitis C infection.
Causes
PCT is a multifactorial disorder, which means that several different factors such as genetic and environmental factors occurring in combination are necessary for the development of the disorder. These factors are not necessarily the same for each individual. These factors contribute either directly or indirectly to decreased levels or ineffectiveness of an enzyme known as uroporphyrinogen decarboxylase (UROD) within the liver. When UROD levels in the liver decrease to approximately 20% of normal levels, the symptoms of PCT may develop.
The UROD enzyme is essential for breaking down (metabolizing) certain chemicals in the body known as porphyrins. Low levels of functional UROD result in the abnormal accumulation of specific porphyrins in body, especially within the blood, liver and skin. The symptoms of PCT occur because of this abnormal accumulation of porphyrins and related chemicals. For example when porphyrins accumulate in the skin, they absorb sunlight and enter an excited state (photoactivation). This abnormal activation results in the characteristic damage to the skin found in individuals with PCT. The liver removes porphyrins from the blood plasma and secretes it into the bile. When porphyrins accumulate in the liver, they can cause toxic damage to the liver.
The exact, underlying mechanisms that cause PCT are complex and varied. It is determined that iron accumulation within the liver plays a central role in the development of the disorder in most individuals. Recently, researchers have discovered that a substance called uroporphomethene, which is an oxidized form of a specific porphyrin known as uroporphyrinogen, is an inhibitor that reduces the activity of the UROD enzyme in the liver. The oxidation of uroporphyrinogen into uroporphomethene has been shown to be iron dependent, emphasizing the importance or elevated iron levels in the development of PCT.
The relationship between iron levels and PCT has long been established and PCT is classified as an iron-dependent disease. Clinical symptoms often correlate with abnormally elevated levels of iron in the liver (iron overloading). Iron overloading in the liver may only be mild or moderate. The exact relationship between iron accumulation and PCT is not fully understood, however, as there is no specific level of iron in the liver that correlates to disease in PCT (e.g. some individuals with symptomatic PCT have normal iron levels).
There is an increased prevalence of mutations in the HFE gene in individuals with PCT. Mutations in the HFE gene can cause hemochromatosis, a disorder characterized by the accumulation of iron in the body, especially the liver. Hemochromatosis occurs when a person inherited two mutated HFE genes (one from each parent). Hemochromatosis is associated with low levels of hepcidin, a specialized protein that is the primary regulator of iron absorption in the body, including regulating the uptake of iron by the gastrointestinal tract and liver.
Additional risk factors that have been associated with PCT include alcohol, certain infections such as hepatitis C or HIV, and drugs such as estrogens. Some studies have indicated that smoking is a risk factor for PCT in susceptible individuals. Less often, certain chemical exposures (e.g. hexachlorobenzene), kidney dialysis, and lupus appear to be connected to the development of PCT. It is believed that these susceptibility factors reduce hepcidin in the body and consequently lead to iron accumulation in the liver. However, the exact relationship among most susceptibility factors with the development of symptoms in PCT is not fully understood. For example, alcohol clearly contributes to the development of the disorder in some cases, but PCT is not common in alcoholics. Most individuals with PCT have three or more susceptibility factors present.
In some cases, individuals develop PCT without a known susceptibility factor, suggesting that additional, as yet unidentified risk factors exist.
The underlying cause of UROD deficiency in the acquired form of PCT is unknown. Affected individuals have approximately 50% residual UROD activity and do not develop symptoms unless additional factors are present. The most common factors associated with acquired PCT are hemochromatosis or chronic hepatitis C infection. In individuals with acquired PCT, UROD levels are only deficient in the liver.
In the familial form of PCT, individuals have a mutation in the UROD gene. This mutation is inherited as an autosomal dominant trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new (de novo) mutation in the affected individual with no family history. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
The UROD gene creates (encodes) the UROD enzyme, which is the fifth enzyme in the heme synthesis pathway. A mutation in one of these genes leads to abnormally low levels of this enzyme in all tissues of the body (not just the liver). However, one mutation alone is insufficient to cause familial PCT as residual UROD enzyme levels remain above 20% of normal. In fact, most individuals with a mutation in the UROD gene do not develop the disorder. Additional factors must be present for the disorder to develop.
Affected Populations
PCT is a rare disorder that affects males and females. The disorder usually develops after the age of 30 and its onset in childhood is rare. PCT is found worldwide and in individuals of all races. The prevalence is estimated to be approximately 1 in 10,000 to 25,000 individuals in the general population. PCT is the most common form of porphyria.
Related Disorders
Symptoms of the following disorders can be similar to those of PCT. Comparisons may be useful for a differential diagnosis.
Variegate porphyria is a rare genetic metabolic disorder characterized by deficient function of the enzyme protoporphyrinogen oxidase (PPO or PPOX). This deficiency is caused by heterozygous mutations in the PPOX gene, and leads to the accumulation of certain chemicals called porphyrins and porphyrin precursors in the body, which, in turn, can potentially result in a variety of symptoms. Specific symptoms can vary greatly from one person to another. Some affected individuals present with skin symptoms, some with neurological symptoms and some with both. Blistering and fragility of sun-exposed skin are the most common skin (cutaneous) symptoms. Common neurological symptoms include abdominal pain, nausea, vomiting, constipation, extremity pain and weakness, anxiety, restlessness and convulsions. Many different PPOX mutations have been identified in different families with variegate porphyria. The genetic mutation in a family is inherited as an autosomal dominant trait, but many individuals who inherit a PPOX mutation do not develop any symptoms (asymptomatic). (For more information on this disorder, choose “variegate porphyria” as your search term in the Rare Disease Database.)
Hepatoerythropoietic porphyria (HEP) is an extremely rare genetic disorder characterized severe deficiency of the enzyme, uroporphyrinogen decarboxylase. Onset is usually during infancy or early childhood, although adult onset has been reported. Affected individuals develop painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Cutaneous photosensitivity is usually more severe in HEP than in PCT. Affected areas of skin can scar and become discolored. There is a risk of bacterial infection. Hypertrichosis is also common. Mild anemia and enlargement of the liver and/or spleen (hepatomegaly) have also been reported. Adult onset, mild cases of HEP may be clinically indistinguishable from PCT. HEP is caused by mutations of the UROD gene and is inherited as an autosomal recessive trait. (For more information on this disorder, choose “hepatoerythropoietic porphyria” as your search term in the Rare Disease Database.)
Pseudoporphyria is a rare skin disease that occurs upon exposure to sunlight. Affected skin may be extremely fragile. In addition, affected individuals can develop large blisters filled with a clear fluid (bullae), small bumps with a distinct white head (milia), and scarring of affected areas. Lesions form in sun-exposed areas of the skin or at the site of trauma on the skin. A sunburn-like rash can develop in some affected individuals. The skin lesions of pseudoporphyria closely resemble those seen in cutaneous forms of porphyria including porphyria cutanea tarda. Pseudoporphyria can occur at any age. Women are affected more often than men. Pseudoporphyria is caused by the use of certain medications. The disorder can also be associated with often chronic kidney failure and hemodialysis. In some cases, tanning beds or ultraviolet light therapy (phototherapy) can worsen symptoms.
There are other conditions that may cause signs and symptoms that are similar to those seen in porphyria cutanea tarda. Such conditions include other cutaneous porphyrias, drug-induced photosensitivity, various forms of lupus, and solar urticarial. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)
Diagnosis
A diagnosis of PCT is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.
Clinical Testing and Workup
Screening tests can help diagnosis PCT by measuring the levels of certain porphyrins in blood plasma. This test can differentiate PCT from variegate porphyria and erythropoietic protoporphyria. Screening tests can also be performed on the urine or feces. The patterns of porphyrins in urine (predominately uroporphyrin and 7-carboxylate porphyrin) and feces (predominately isocoproporphyrin) help to confirm the diagnosis. Familial PCT can be diagnosed by the presence of a reduced amount of the UROD enzyme in red blood cells (erythrocytes). Molecular genetic testing is available for familial PCT if the diagnosis has been confirmed in the patient or a family member by urinary porphyrin analysis and/or enzyme assay of UROD activity.
Standard Therapies
Treatment
The treatment of PCT is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, general internists, hematologists, dermatologists, hepatologists, and other healthcare professionals may need to systematically and comprehensively plan an affect child’s treatment.
PCT is the most treatable form of porphyria and treatment appears equally effective for both the sporadic and familial forms. The standard treatment of individuals with PCT is regularly scheduled phlebotomies to reduce iron and porphyrin levels in the liver. This is the preferred treatment of affected individuals at many porphyria centers regardless of whether there is confirmed iron overload. A phlebotomy is a simple and safe procedure that involves removing blood via a vein (bloodletting). Since much of the iron in the body is present in red blood cells, regular phlebotomies can reduce excess iron levels in the body. Regularly scheduled phlebotomies usually results in complete remission in most individuals. A phlebotomy schedule is recommended to achieve a target ferritin level of less than 20 nanograms per milliliter (<20 ng/mL). Ferritin is an iron compound that is used an indicator of the body’s iron stores. Most patients require between five and eight phlebotomies to achieve remission.
In some cases, affected individuals may be treated with low doses of chloroquine and hydroxychloroquine, which can also reduce iron levels in the liver. These drugs are often used to treat malaria (antimalarials). This therapy is usually reserved for individuals for whom phlebotomies are not an option (e.g. contraindicated) such as in individuals with anemia, if there is the non-availability of venous access, or because of patient choice. The dosage of these drugs is especially important; dosages approaching those commonly used to treat individuals with other conditions can cause significant adverse effects in individuals with PCT including elevating porphyrin levels and worsening photosensitivity. The recommended dosages are 100 mg twice a week for hydroxychloroquine or 125 mg twice a week for chloroquine. Such a low dose schedule is equally effective as phlebotomy and easier to take with less treatment cost involved. The mechanism of action of these drugs in individuals with PCT is not fully understood, but it is speculated that these drugs bind with porphyrins inside the lysosomes of liver cells, to be eventually excreted in the urine.
Hydroxychloroquine and chloroquine are contraindicated in pregnant women or women who are lactating. These drugs are also contraindicated for individuals with advanced liver disease, psoriasis, retinal disease, or glucose-6-phosphate dehydrogenase deficiency or who have recent or continued use of alcohol or drugs that are toxic to the liver (e.g. acetaminophen, isoniazid or valproic acid). Hydroxychloroquine and chloroquine can be associated with side effects including less serious ones (e.g., nausea, vomiting, headaches, etc.), but also more serious ones including seizures, muscle weakness or damage to the retinas of the eyes (retinopathy). Although retinopathy is unlikely with the low dose regimen used for PCT, an eye (ophthalmological) examination is recommended both before and after treatment. Signs of retinopathy can include blurred vision, light sensitivity or seeing halos around lights.
Iron chelators are drugs that bind to iron in the body allowing iron to be dissolved in water and excreted from the body through the kidneys. Iron chelators are less effective than phlebotomy or low dose hydroxychloroquine or chloroquine in treating individuals with PCT. However, these drugs may play a role in treating affected individuals in whom the use of the two front-line therapies is not possible, such as individuals with end stage renal disease who are on hemodialysis.
Affected individuals are advised to avoid environmental triggering factors of the disorder such as stopping alcohol consumption or smoking. The avoidance of sunlight may be necessary to protect the skin and can include the use of double layers of clothing, long sleeves, wide brimmed hats, gloves, and sunglasses. Pain killers (oral analgesics) can be used to treat painful skin lesion. Care should be taken to avoid infection of skin lesions. Antibiotics can be used to treat skin infections that do develop.
The treatment of PCT can achieve complete remission in affected individuals, but relapse is possible. The treatment of relapse is the same as the initial treatment.
Investigational Therapies
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com
For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/
The Porphyrias Consortium is a joint endeavor including five of the leading porphyria centers in the United States. Staff includes physicians, researchers, research coordinators, and technical laboratory staff. The Consortium aims to expand the knowledge about porphyrias to benefit patients and families. Study information regarding porphyrias is also posted at the Porphyrias Consortium website: http://rarediseasesnetwork.epi.usf.edu/porphyrias/index.htm
NORD Member Organizations
Other Organizations
References
TEXTBOOKS
Porphyria Cutanea Tarda. In: Handbook of Iron Overload Disorders. Barton JC, Edwards CQ, Phatak PD, et al. (eds). 2010 Cambridge University Press, New York, NY. Pp. 160-168.
Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed. Scriver CR, Beaudet AL, Sly WS, et al. (eds). 2001 McGraw-Hill, New York, NY. Pp. 2991.
Anderson KE. Porphyria Cutanea Tarda. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:493-494.
JOURNAL ARTICLES
Singal AK, Kormos-Hallberg C, Lee C, et al. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2012;10:1402-1409. http://www.ncbi.nlm.nih.gov/pubmed/22985607
Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012;120:4496-4504. http://www.ncbi.nlm.nih.gov/pubmed/22791288
Ryan Caballes F, Sendi H, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int. 2012;32:880-893. http://www.ncbi.nlm.nih.gov/pubmed/22510500
Puy H, Gouva L, Deybach JC. Porphyrias. Lancet. 2010;375:924-937. http://www.ncbi.nlm.nih.gov/pubmed/20226990
Frank J, Poblete-Gutierrez P. Porphyria cutanea tarda – when skin meets liver. Best Pract Res Clin Gastroenterol. 2010;24:735-745. http://www.ncbi.nlm.nih.gov/pubmed/20955974
Phillips JD, Bergonia HA, Reilly CA, Franklin MR, Kushner JP. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci USA. 2007;104:5079-5084. http://www.ncbi.nlm.nih.gov/pubmed/17360334
Young LC. Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature. Cutis. 2007;80:415-418.http://www.ncbi.nlm.nih.gov/pubmed/18189029
Lambrecht RW, Thapar M, Bonkovsky HL. Genetic aspects of porphyria cutanea tarda. Semin Liver Dis. 2007;27:99-108. http://www.ncbi.nlm.nih.gov/pubmed/17295179
Sams H, Kiripolsky MG, Bhat L, Stricklin GP. Porphyria cutanea tarda, hepatitis C, alcoholism, and hemochromatosis: a case report and review of the literature. Cutis. 2004;73:188-190.http://www.ncbi.nlm.nih.gov/pubmed/15074347
Bygum A, Christiansen L, Petersen NE, et al. Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. Acta Derm Venereol. 2003;83:115-120. http://www.ncbi.nlm.nih.gov/pubmed/12735639
Lambrecht RW, Bonkovsky HL. Hemochromatosis and porphyria. Semin Gastrointest Dis. 2002;13:109-119.
http://www.ncbi.nlm.nih.gov/pubmed/12064861
Egger NG, Goeger DE, Payne DA, et al. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci. 2002;47:419-426. http://www.ncbi.nlm.nih.gov/pubmed/11855561
Sampietro M, Fiorelli G, Fargion S. Iron overload in porphyria cutanea tarda. Haematologica. 1999;84:248-253. http://www.ncbi.nlm.nih.gov/pubmed/10189391
INTERNET
Poh-Fitzpatrick M. Porphyria Cutanea Tarda. Medscape, March 20, 2015. Available at:http://emedicine.medscape.com/article/1103643-overview Accessed March 16, 2016
Singal AK, Anderson KE. Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria. UpToDate, Inc. November 27, 2012. Available at: http://www.uptodate.com/contents/porphyria-cutanea-tarda-and-hepatoerythropoietic-porphyria Accessed March 16, 2016.
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Monday, January 29, 2018

What is Hepatoerythropoietic Porphyria? (HEP)

Hepatoerythropoietic Porphyria (HEP)

What is Hepatoerythropoietic Porphyria?
HEP is a deficiency of the enzyme uroporphyrinogen decarboxylase; it is the autosomal recessive form of f-PCT. The manifestations of HEP resemble Congenital Erythropoietic Porphyria (CEP), with symptoms of skin blistering that usually begin in infancy.
Skin photosensitivity results in severe blistering and scarring, often with mutilation and loss of facial features and fingers. Increased hair growth (hypertrichosis) on sun-exposed skin, brownish-colored teeth (erythrodontia), and reddish-colored urine are common. There may be bone fragility due to expansion of the bone marrow and vitamin deficiencies, especially vitamin D. Red blood cells have a shortened life-span, and mild or severe hemolytic anemia often results. Synthesis of heme and hemoglobin is actually increased to compensate for the shortened red blood cell survival and is associated with splenomegaly. Bacteria may infect the damaged skin and contribute to mutilation and scarring.

Who gets Hepatoerythropoietic Porphyria?
HEP is a very rare type of autosomal recessive porphyria. Each parent of an affected individual must have a mutation in one of their UROD genes and both must pass their mutation on to their child.  This also means that both parents have f-PCT.

What causes Hepatoerythropoietic Porphyria?
HEP is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase, due to the inheritance of mutations in both copies of a person’s URO-decarboxylase genes.

How is Hepatoerythropoietic Porphyria diagnosed?
Diagnosis of HEP can be made by demonstrating significant elevations of specific porphyrins in urine and stool, as well as iidentification of a specific fluorescence emission peak in plasma.  DNA testing to identify the specific mutations in an individual’s UROD genes is the most specific and sensitive test to confirm the diagnosis of HEP.

What are treatments for Hepatoerythropoietic Porphyria?
Treatment is the same as for PCT: regularly scheduled phlebotomies (removal of blood) to lower the amount of porphyrins in the liver or a low dose regimen of hydroxychloroquine as well as removal of factors (for example, certain medications) that activated the disease and avoidance and/or protection from sunlight.

Additional Reading about HEP:

Hepatoerythropoietic Porphyria
NORD gratefully acknowledges Ashwani K Singal, MD, MSc, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, for assistance in the preparation of this report.
Synonyms of Hepatoerythropoietic Porphyria
  • autosomal recessive PCT
  • HEP
General Discussion
Summary
Hepatoerythropoietic porphyria (HEP) is an extremely rare genetic disorder characterized by deficiency of the enzyme, uroporphyrinogen decarboxylase. This deficiency is caused by mutations of both copies of a person’s UROD gene, which means that the disorder is inherited as an autosomal recessive trait. Most affected individuals have a profound deficiency of this enzyme and onset of the disorder is usually during infancy or early childhood. However, some individuals may have a mild form that can go undiagnosed until adulthood. The childhood form of HEP is often associated with painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected areas of skin can scar and become discolored. There may be risk of bacterial infection. Abnormal, excessive hair (hypertrichosis) on affected skin is also common. Mild anemia and abnormal enlargement of the liver and/or spleen (hepatosplenomegaly) have also been reported. Mild cases of HEP may go unrecognized until adulthood and can be clinically indistinguishable from porphyria cutanea tarda (PCT), a related disorder that may be acquired or occur in individuals with a mutation of one UROD gene (autosomal dominant inheritance). Cutaneous photosensitivity is generally much more severe in HEP than in PCT. NORD has a separate report on porphyria cutanea tarda.
Introduction
HEP belongs to a group of disorders known as the porphyrias. This group of at least seven disorders is characterized by abnormally high levels of porphyrins and porphyrin precursors due to deficiency of certain enzymes essential to the creation (synthesis) of heme, a part of hemoglobin and other hemoproteins. There are eight enzymes in the pathway for making heme and at least seven major forms of porphyria. The symptoms associated with the various forms of porphyria differ. It is important to note that people who have one type of porphyria do not develop any of the other types. Porphyrias are generally classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and porphyrin precursors and related substances originate in excess amounts predominantly from the liver in the hepatic types and mostly from the bone marrow in the erythropoietic types. Porphyrias with skin manifestations are sometimes referred to as "cutaneous porphyrias". The term "acute porphyria" is used to describe porphyrias that can be associated with sudden attacks of pain and other neurological symptoms. HEP is a hepatic and cutaneous porphyria.
Signs & Symptoms
The symptoms and severity of HEP can vary from one person to another. Onset is usually within the first two years of life, but mild cases that go undiagnosed until adulthood have been reported. Although HEP is associated with specific, characteristic symptoms, several factors, including the small number of identified cases, make it difficult to establish the full range of associated symptoms of the disorder.
Severe cutaneous photosensitivity is usually the first sign. Affected infants may have extremely fragile skin that that can peel or blister on minimal impact is common. Reddening of the skin is common (erythema). Blistering skin lesions can develop on sun-exposed skin such as the hands and face. Photosensitivity can be severe and can cause scarring, erosion, and disfigurement. Bacterial infection of skin lesions can occur.
Abnormal, excessive hair growth (hypertrichosis) may also occur on sun-exposed skin. Affected skin may darken or lose color (hyper- or hypopigmentation). Small bumps with a distinct white head (milia) may also develop. Some affected individuals have teeth that are reddish-brown colored (erythrodontia).
Low levels of circulating red blood cells (anemia) may also occur. Anemia may be due to the premature destruction of red blood cells (hemolysis). Anemia associated with HEP may be mild or severe. Severe anemia may be associated with fatigue, pale skin, irregular heartbeat, chest pain, dizziness, and abnormally cold hands and feet. Some individuals may have an abnormally enlarged liver and/or spleen (hepatosplenomegaly).
Mild cases of HEP can go undiagnosed until adulthood. Overt photosensitivity may not be seen and mild skin damage can be mistaken for other conditions during childhood.
Causes
HEP is caused by mutations of both alleles of the UROD gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.
HEP is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
Investigators have determined that the UROD gene is located on the short arm (p) of chromosome 1 (1p34.1). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 1p34.1” refers to band 34.1 on the short arm of chromosome 1. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
The UROD gene creates (encodes) an enzyme known as uroporphyrinogen decarboxylase (UROD), which is the fifth enzyme in the heme biosynthetic pathway. In HEP, UROD enzyme activity is usually less than 10% its normal levels. Such low enzyme activity results in the abnormal accumulation of specific porphyrins and related chemicals in body, especially within the bone marrow, red blood cells, liver and skin. Symptoms develop because of this abnormal accumulation of porphyrins and related chemicals. For example when porphyrins accumulate in the skin, they absorb sunlight and enter an excited state (photoactivation). This abnormal activation results in the characteristic damage to the skin found in individuals with HEP. The liver removes porphyrins from the blood plasma and secretes it into the bile. When porphyrins accumulate in the liver, they can cause toxic damage to the liver.
Affected Populations
HEP is an extremely rare disorder that affects males and females in equal numbers. Approximately 40 cases have been reported in the medical literature. The exact incidence or prevalence of HEP in the general population is unknown.
Related Disorders
Symptoms of the following disorders can be similar to those of HEP. Comparisons may be useful for a differential diagnosis.
Congenital erythropoietic porphyria (CEP) is a rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III cosynthase (UROS), the fourth enzyme in the heme biosynthetic pathway. Due to the impaired function of this enzyme, excessive amounts of particular porphyrins accumulate, particularly in the bone marrow, plasma, red blood cells, urine, teeth, and bones. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After exposure to light, the photo-activated porphyrins in the skin cause bullae (blistering) and the fluid-filled sacs rupture, and the lesions often get infected. These infected lesions can lead to scarring, bone loss, and deformities. The hands, arms, and face are the most commonly affected areas. CEP is inherited as an autosomal recessive genetic disorder. Typically, there is no family history of the disease. Both parents are usually healthy, but each carries a defective gene that they can pass to their children. Affected offspring have two copies of the defective gene, one inherited from each parent. (For more information on this disorder, choose “congenital erythropoietic porphyria” as your search term in the Rare Disease Database.)
There are other conditions that may cause signs and symptoms that are similar to those seen in HEP. Such conditions include other cutaneous porphyrias, drug-induced photosensitivity, epidermolysis bullosa, various forms of lupus, and solar urticarial. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)
Diagnosis
A diagnosis of HEP is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. HEP may be considered in infants and children with chronic, blistering photosensitivity.
Clinical Testing and Workup
Screening tests can help diagnose HEP by measuring the levels of certain porphyrins in blood plasma, urine and red blood cells. These tests can help to differentiate the disorder from congenital erythropoietic porphyria by the different patterns of individual porphyrins and/or by demonstrating markedly decreased activity of the UROD enzyme. There is elevation of porphyrins in plasma, urine, and feces. Porphyrin patterns in HEP are similar to those seen in PCT with elevation of highly carboxylated porphyrins and isocoproporphyrins. In contrast to PCT, there are markedly increased levels of zinc protoporphyrin in red blood cells in HEP patients which is due to accumulation of pathway intermediates being metabolized to protoporphyrins.
Molecular genetic testing can confirm a diagnosis of HEP by detecting mutations in both UROD genes, but is available only on a clinical basis.
Standard Therapies
Treatment
The treatment of HEP is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, hematologists, dermatologists, hepatologists, and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment. Genetic counseling may benefit affected individuals and their families.
There is no specific, FDA-approved therapy for individuals with HEP. Because the disorder is so rare, most treatment information is based other forms of porphyria.
Avoidance of sunlight will benefit affected individuals and can include the use of clothing styles with long sleeves and pant legs, made with double layers of fabric or of light-exclusive fabrics, wide brimmed hats, gloves, and sunglasses. Topical sunscreens are generally ineffective, but certain tanning products with ingredients that increase pigmentation may be helpful. Affected individuals may also benefit from window tinting and the use of vinyl or films to cover the windows of their homes and cars.
Phlebotomies, which are used to treat individuals with PCT, are generally ineffective in individuals with HEP since elevated iron levels are not a feature of the disorder. Another treatment for PCT, the antimalarial drug chloroquine, was effective in at least one case reported in the medical literature.
Anemia may require treatment in some cases. Blood transfusions have been used to treat some individuals. Recombinant erythropoietin, which helps the body produce more red blood cells, was successfully used to treat severe anemia in an individual with HEP whose anemia was not associated with increased red cell destruction.
Investigational Therapies
Gene therapy is also being studied as another approach to therapy for individuals with genetic disorder associated with enzyme deficiency. In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the produce of the active enzyme and prevent the development and progression of the disease in question. Given the permanent transfer of the normal gene, which is able to produce active enzyme at all sites of disease, this form of therapy is theoretically most likely to lead to a “cure”. However, at this time, there remain some technical difficulties to resolve before gene therapy can be advocated as a viable alternative approach for genetic disorders like HEP.
References
JOURNAL ARTICLE
Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012;120:4496-4504. http://www.ncbi.nlm.nih.gov/pubmed/22791288
To-Figueras J, Phillips JD, Gonzalez-Lopez JM, et al. Hepatoeythropoetic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. Br J Dermatol. 2011;165:499-505.http://www.ncbi.nlm.nih.gov/pubmed/21668429
Cantatore-Francis JL, Cohen J, Balwani M, et al. Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Arch Dermatol. 2010;146:529-533. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092549/
Phillips JD, Whitby FG, Stadmueller BM, et al. Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). Transl Res. 2007;149:85-91.http://www.ncbi.nlm.nih.gov/pubmed/17240319
Armstrong DK, Sharpe PC, Chambers CR, et al. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol. 2004;151:920-923. http://www.ncbi.nlm.nih.gov/pubmed/15491440
Ged C, Ozalla D, Herrero C, et al. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol. 2002;138:957-960.http://www.ncbi.nlm.nih.gov/pubmed/12071824
Horina JH, Wolf P. Epoetin for severe anemia in hepatoerythropoietic porphyria. N Engl J Med. 2000;342:1294-1295. http://www.ncbi.nlm.nih.gov/pubmed/10787339
Moran-Jimenez MJ, Ged C, Romana M, et al. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet. 1996;58:712-721. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914669/
INTERNET
Singal AK, Anderson KE. Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria. UpToDate, Inc. Last Updated: October 5, 2015. Available at: http://www.uptodate.com/contents/porphyria-cutanea-tarda-and-hepatoerythropoietic-porphyria Accessed March 17, 2016.
Years Published
2013, 2016

Saturday, January 27, 2018

Tiffany England~ Stuck on you Vinyl~ Raises Awareness for APF rare disease!

Tiffany England~ Stuck on you Vinyl~ Raises Awareness for APF rare disease!

Order Here: https://www.facebook.com/stuckonyouvinyld/
Hi, My Name is Tiffany England. I was diagnosed with PCT and then VP at the age of 20. I've spent the last 16 years going from attack to attack, like most people do. I've had a couple years here and there where I didn't suffer from major attacks, but not often. Right now, is one of those good times.
So, about a year ago I started my own Vinyl Decal business. I make vinyl stickers that can go on your car, windows, walls, phone cases, signs, notebooks, computers, and more. It is something that I can do on my own time, when I'm feeling well. It’s also something I really enjoy doing. Amy Chapman contacted me about a month ago to see if I would design one for the American Porphyria Foundation. I was so excited to do this. My hope is that they will find a cure or at least a better treatment for Porphyria in my lifetime. So, with saying this a portion of each sale will be donated to the American Porphyria Foundation.
Each listing can be viewed on FB at this link:
https://www.facebook.com/stuckonyouvinyld/
The APF is not selling these.
Please message me directly to place your order. Each item for sale is listed as A, B, C, D, E, F. They have the price and size listed on the picture. If you have questions please message me & I will respond promptly.
I wanted to specify that each decal is made custom and not going through a generic print/machine.
Thank you for stopping by my store, raising awareness about Porphyria! My hope is that you enjoy each one made personally.
Thanks,
Tiffany England- Porphyria Advocate

Thursday, January 25, 2018

What is ALAD & How common is it?

ALAD-Deficiency Porphyria (ADP)


What is δ-Aminolevulinic Acid Dehydratase Porphyria?
ADP is a severe disorder caused by a deficiency of the enzyme δ-aminolevulinic acid dehydratase (ALAD) which results in  an increase of 5’-aminolevulinic acid (ALA) in the liver, other tissues, blood plasma, and urine. In addition, urine coproporphyrin and erythrocyte protoporphyrin are increased. ADP generally presents with sudden attacks of severe stomach pain that last for several days.

Who gets δ-Aminolevulinic Acid Dehydratase Porphyria?
All of the reported cases of ADP have been males, in contrast to the other acute porphyrias. ADP is the least common of all the porphyrias with less than 10 cases documented to date. This is an autosomal recessive disease, whereas the other three acute porphyrias are autosomal dominant. Each parent of an affected individual must have a mutation in one of their ALAD  genes and both must pass their mutation on to their child.

What causes δ-Aminolevulinic Acid Dehydratase Porphyria?
ADP is caused by a deficiency of the enzyme δ-aminolevulinic acid dehydratase (ALAD).

How is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP) diagnosed?
There are many laboratory tests available for the porphyrias, and it is often difficult to decide which should be chosen.  Many of these tests are expensive and the results are often difficult to interpret. When abdominal and neurological symptoms suggest an acute porphyria, the best screening tests are urinary aminolevulinic acid (ALA) and porphobilinogen (PBG). DNA testing to identify the specific mutation in an individual’s porphyria-causing gene is the most specific and sensitive test to confirm the diagnosis of a specific porphyria. Before requesting DNA testing, it is recommended that patients have biochemical testing (urinary, stool and/or plasma porphyrins and porphyrin precursors (ALA and PBG) and/or enzyme assays). However, biochemical testing may be inconclusive.

What are treatments for δ-Aminolevulinic Acid Dehydratase Porphyria?
Treatment is the same as in the other acute porphyrias. For the acute porphyrias, hospitalization is often necessary for acute attacks. Medications for pain, nausea and vomiting, and close observation are generally required with monitoring of salt and water balance. Harmful drugs should be stopped. Attacks are treated with either glucose loading or intravenous administration of hemin (Panhematin®). Attacks can be prevented in many cases by avoiding harmful drugs and adverse dietary practices.

Monday, January 22, 2018

Miss Sian - Dancing through the shadows into the light

The Story

Sian is a 12 year old, aspiring dancer from Topeka, KS. Her dedication, hard work, and determination has provided her a wonderful opportunity to participate in Motion 41's Summer Intensive Program in Omaha, NE. This opportunity would allow her to dance with older dancers from all over the US and learn from some amazing instructors from all over the world.  Dancers strive for acceptance to a summer intensive program! Her total cost is $1,995.  

Donate Here: 

https://www.youcaring.com/misssian-1068795/donate/general

Tuition $1,000. Room/meals $995. Most summer intensives cost $4000 for tuition/room/meals!  She has a scholarship for $200, leaving a tuition balance of $800 due before May 18. I am saving money from each paycheck for the $995 room/board/meals. It will not be easy as I am a single parent. Si is working hard to earn money (baking and selling cookies, breads, pies; and doing chores). I'm afraid this may not be enough.  Money raised will go to tuition, remaining room/meals, and incidentals. Let me share with you the story of Sian, and how you can be a part of her journey.  
Dance - She was accepted into Ballet Midwest's Junior Company at the age of 10 and continues to be a member. She has performed in the Nutcracker as a solder, cadet and this year, en pointe, as a polichinette. She has performed roles in Swan Lake, Sleeping Beauty, and currently, Romeo and Juliet. When she is not in school, she is at the studio. Sometimes 7 days a week for 4 or more hours a day.  
Why is this important to her? – Dancing is her world!  Dance allows her to feel and be normal. There are no boundaries, no limitations. She uses dance as a platform to talk about EPP, the FDA, and politics! She hides in the shadows every day of her life. Omaha is important to her because she can be normal, advance her skills, and dance out of the shadows into the light on a national level.    
Why is this important to me?  Si has every right to curl up in a ball and throw in the towel. She has every right to question why God has chosen her to carry these burdens. She has every right to be angry, bitter, jealous and envious. Instead, she pushes the raging inferno and injustice deep inside. She wipes away the tears, laces up the pointes, puts on a smile and performs. Everyone else sees a graceful, beautiful dancer with so much emotion and talent that will take her places. For her it's a moment that she is normal. Another wall broken  down. Another chance to bring joy/happiness/inform people.  For me, it's a moment to see a  strong, determined young woman, who is fighting through the pain to change the world. I see perfection and confirmation as why God has chosen her. I see the daily pain that she is desperately trying to hide. I see the tears quickly wiped away so as others do not see. I hear the silent “whys” in her eyes, as she looks at me in physical or emotional pain from the name callers.  Omaha is important to me, because it's her dream!
Medical - Si had all the odds stacked against her from birth. She was born 4 weeks premature, with a bicuspid aortic valve, an aortic stenosis, and a trivial aortic insufficiency. Most recently, she was diagnosed with NSHL (Neurosensori hearing loss) requiring a hearing aid and  POTS (Postural Orthostatic Tachycardia Syndrome). All those conditions are nothing compared to the diagnosis that stopped us in our tracks -EPP.  Her lip in the picture is from an EPP attack. Yet, she smiles through the torture.  
Erythropoietic protoporphyria is a rare genetic blood disorder. Sian began to show symptoms of EPP when at age 4. These debilitating attacks are caused by exposure to any sunlight.  Imagine being four, riding your bike in shorts, flip-flops, and not a care in the world. Abruptly, having to stay inside; wear long pants, long sleeves, hats, gloves, and sunglasses (year round). Not being able to swim, sled or play with friends outside! To be in constant pain from the light. Your skin and deep tissue burning like lava, stinging like a 1000 bees!  There are no medications, pain relievers or treatments available to prevent, stop or assist. She sits in cold baths for hours, cold socks on her hands, fans blowing. Her attacks begin within 72 hours of exposure and can last at least 5 days. She has scars and pitting on her face and fingers. She endures rigorous blood tests every 6 weeks to check her CBCs, iron, TIBC, ferratin, hemoglobin, Vit D, iron and protoporphyrin levels. She endures feraheme infusions every 4 months at the Cancer Center due to EPP side effects. She is constantly being seen or in contact with her medical specialists at Children's Mercy (Hepatologist, Cardiologist, Otolaryngologist, Audiologist, and Dermatologist), specialists at the Cancer Center (Hematologist);  Dr. Karl Anderson, specialist at UTMB; (Gastroenterologist);   Dr. Joseph Bloomer, specialist at UAB (Gastroenterologist) and the APF.  
APF (American Porphryia Foundation) According to the APF, "protoporphyrin accumulates first in the bone marrow. Then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It causes very painful photosensitivity and can greatly impair quality of life.  Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight, including sunlight that passes through window glass. This can cause mild to severe burning pain on sun-exposed areas of the skin. Skin manifestations generally begin early childhood and are more severe in the summer. There is an increased risk of gallstones, which contain protoporphyrin. Excess protoporphyrin can also cause liver damage.  Less than 5% of EPP patients’ severe liver damage and a condition caused protoporphyric hepatopathy that sometimes requires liver transplantation."        
Politics - There is no cure for this condition. The one medication that has proven to work is not available in the US! Clinuvel states on their website, "The FDA has recognised that afamelanotide meets an unmet clinical need and treats a severe genetic condition for patients who are life-long deprived of light. SCENESSE® was granted orphan drug designation by the FDA in 2008 for the treatment of EPP patients and Fast Track Designation (FTD) in 2016, allowing for a ‘rolling review’ of the NDA." Yet, is still unavailable for people who continue to hide from the sun. Sian is one of many EPP sufferers that have provided letters and pictures to the FDA in an attempt to show them what this condition is capable of doing and the impact it has on living a normal life.      
Thank you for taking time to read! Even if you cannot make a donation, just the fact that we reached one more person and brought awareness to EPP, the APF, and Scenesse is rewarding.

News stories focusing on Sian and EPP  
http://www.wibw.com/home/headlines/Family-shines-light-on-rare-sun-disorder-316068261.html
html http://ksnt.com/2015/07/16/rare-disorder-keeps-topeka-girl-hiding-from-the-sun/ 
http://ksnt.com/2016/07/13/topeka-girl-gets-new-drug-for-her-allergies-to-the-sun/ 

Articles/websites focusing on EPP  
http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/EPP-and-XLP 
https://rarediseases.org/rare-diseases/erythropoietic-protoporphyria/
https://rarediseases.info.nih.gov/diseases/4527/erythropoietic-protoporphyria 
https://emedicine.medscape.com/article/1104061-overview 

Monday, January 15, 2018

Keep Yourself Moving

Keep Yourself Moving

“If exercise were a pill, it would be the most widely prescribed medication in the world.” (Emory University School of Medicine) Of all the things we can do for our health, few are more generally helpful than physical exercise.
Exert yourself. Leading a physically active life can help us feel happier, think more clearly, have more energy, be more productive and, along with proper diet, control our weight. Exercise need not be painful or extreme to be effective. Regular periods of moderate exercise several times a week can be very beneficial.
Jogging, brisk walking, biking, and taking part in active sports​—enough both to get your heart beating faster and to cause you to break a sweat—​can improve your endurance and help to prevent heart attack and stroke. Combining such aerobic exercise with moderate weight training and calisthenics helps to strengthen your bones, internal muscles, and limbs. These activities also contribute to maintaining a higher metabolism, which automatically helps to control your weight.
Exercise can be enjoyable
Use your feet. Exercise is beneficial for people of all ages, and membership in a gym is not required to get it. Simply using your feet instead of a car, bus, or elevator is a good start. Why wait for a ride when you can walk to your destination, perhaps even arriving there faster? Parents, encourage your children to participate in physical play, outdoors whenever possible. Such activity strengthens their bodies and helps them to develop whole-body coordination in ways that sedentary entertainment, such as video games, cannot.
No matter how old you are when you start, you can benefit from moderate physical exercise. If you are older or have health problems and have not been exercising, it is wise to consult a doctor about how to begin. But do begin! Exercise that is started gradually and not overdone can help even the oldest among us to maintain muscle strength and bone mass. It can also help seniors to avoid falls.
Exercise is what helped Rustam, mentioned in the first article of this series. Seven years ago, he and his wife began jogging a little each morning, five days a week. “At first, we made excuses not to go,” he relates. “But having a partner helped to motivate both of us. Now it has become a good, enjoyable habit.”

The Porphyria story of Victor LaFae with HCP

Porphyria story - HCP - Victor LaFae I’m told that I was a typical happy baby for the first few months of my life. I reached all my mile...