Thursday, March 31, 2016

Desiree Lyon Howe to receive the NORD Rare Impact Award

Desiree Lyon Howe to receive the NORD Rare Impact Award


Desiree Lyon Howe will be receiving the Rare Impact Award in Washington, DC on May 17, 2016 for her many accomplishments to further porphyria research, awareness and education.  This prestigious award is given on behalf of the National Organization for Rare Diseases and the 30 million Americans they represent. 

Desiree's response to the news was, "The staff and the members of the American Porphyria Foundation work together to make these advances possible.  I share this Award with each of them."

You may view the official announcement here:

Wednesday, March 30, 2016

WHEN TRAGEDY STRIKES—HOW YOU CAN COPE Loss Of Health A personal Example!

A hospital bed


Loss Of Health

Mabel, in Argentina, led an active life and worked as a physical-rehabilitation therapist. In 2007, she began to feel especially tired and to have severe headaches daily. “I went to several doctors and tried all kinds of medications,” she says, “but nothing helped.” Finally, Mabel had an MRI scan, which showed that she had a brain tumor. She says: “I was stunned! I couldn’t believe that I had been living with this enemy inside me.

“Still, I didn’t really understand how serious my situation was until after I had surgery. When I woke up in intensive care, I couldn’t move. All I could do was stare at the ceiling. Before the surgery I had been active and independent. Suddenly I could do nothing. My days in intensive care were filled with confusion and noise from medical equipment, emergency alarms, and moans from other patients. I felt as though I could breathe the pain and suffering in the air.
“Today, I have recuperated to a certain degree. I can walk without help and even go out by myself at times. But I have double vision and still lack muscle coordination.”


Maintain a positive viewpoint. At Proverbs 17:22, the Bible says: “A joyful heart is good medicine, but a crushed spirit saps one’s strength.” Mabel recalls: “During my recovery, I faced the same challenges that my own patients had faced. The exercises were very painful, and at times I thought of giving up. I had to force myself to dismiss such negative thinking, knowing that the effort would eventually bring good results.”
Build hope in order to endure. “From the Bible, I knew why tragedies occur,” says Mabel. “But I also knew that with each passing day, we are closer to the time when pain will be gone forever.” *
 Mabel recalls how this helped her: “When they took me in for surgery, I experienced the truth ~ ‘Do not be afraid, for I am with you.’ I felt an immense peace knowing that God cared about what happened to me.”
                         "Remember....Research is the key to your cure!"

Monday, March 28, 2016

Acute Porphyria Emergency Reminders

THE PORPHYRIA RESEARCH CONSORTIUM of the Rare Disease Clinical Research Network of the NIH As a reminder, the Porphyria Research Consortium is a team of experts who are conducting the major life saving research for all of us. Dr. Montgomery Bissell, University of California, San Francisco; Dr. Karl Anderson, University of Texas Medical Branch; Dr. John Phillips,University of Utah; Dr. Herbert Bonkovsky, University of North Carolina; Dr. Joseph Bloomer, University of Alabama and Dr. Robert Desnick, Mount Sinai School of Medicine. Desnick Bloomer Anderson Phillips Bonkovsky Bissell Research volunteers are needed for all types of porphyria, including a research project for a new Alnylam treatment for the acute porphyrias. It only takes one day out of your life, please call the APF office asap and become a Medical Hero. 

YOU are the KEY because RESEARCH IS THE KEY TO YOUR CURE. Call the APF 1.866 APF.3635 EMERGENCY ROOM GUIDELINES KEY POINTS The APF website has an Emergency Room Guidelines section on acute porphyrias designed for primary care and emergency room physicians.

 The following Key Points are essential for diagnosis and treatment: 1. The human porphyrias are clinical disorders reflecting defects in heme biosynthesis. 2. Acute porphyrias cause acute attacks of neurological symptoms that can be life-threatening. 3. Acute attacks are triggered by certain drugs, sex steroid hormones, reduced intake of calories and carbohydrate, alcohol and unknown factors. 4. Many of these factors stimulate heme synthesis in the liver, which in the face of a metabolic enzyme defect, leads to increased production of heme precursors that may be neurotoxic. 5. Delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), are porphyrin precursors and intermediates in the heme biosynthetic pathway. 6. ALA and porphobilinogen (PBG) are almost always elevated in urine during an acute attack of porphyria. 7. The most common emergency room (ER) clinical presentation is acute abdominal pain. Other features may include seizures, confusion and hallucinations, and a progressive polyaxonal motor neuropathy, which can progress to paralysis and respiratory failure requiring a ventilator. 8. A high index of suspicion in the presence of nonspecific symptoms is important for diagnosis. A family history of porphyria, female sex, onset during the luteal phase of the menstrual cycle, or recent use of a porphyrinogenic drug may be diagnostic clues. 9. A new diagnosis of porphyria as the cause of acute symptoms must be substantiated by finding a substantial increase in urine porphobilinogen (PBG). 10. Treatment should start promptly after the diagnosis is made. Mild attacks are sometimes treated with glucose loading (e.g. 3L of 10% glucose daily by vein). 11. Most acute attacks should be treated with hemin (Panhematin®), Recordati Rare Diseaes at: or 866-654-0539; 3-4mg/kg into a large peripheral vein or venous access port daily for 4 days.
 Reconstituting Panhematin® with human serum albumin rather than sterile water is recommended prior to infusion. This helps prevent phlebitis at the site of intravenous infusion. 12. Hospitalization is usually required for symptomatic treatment of pain, nausea and vomiting.

                                   "Remember....Research is the key to your cure!"

Thursday, March 24, 2016

Are you ready for NPAW 2016? We are ready to raise Awareness!

National Porphyria Awareness Week 2016

This is the time of year that each of YOU has the opportunity to reach out to advance porphyria awarenss in your local and medical communities.  YOU are key to spreading knowledge about porphyria. For example, the Cook family has enhanced awareness in Vernon, TX by hosting a Barrel Race and educating kids in school about EPP. Amanda Boston teaches her nurses and doctors about porphyria with her every hospitalization. Claire and Bob Sadowniczak manned the APF porphyria booth at the Hematology Convention. Louise Schlosser is hosting a patient support  meeting.  Amy Chapman writes a blog and Rob Saupe' assists with the APF website, Amy Rose Burke is a Facebook administrator. There are countless ways to enhance awareness.  The APF will provide you with materials to help with your venue and will be glad to make suggestions to accomplish your goals if you need assistance. There are many ways to spread awareness in your own community, including the suggestions below:
  • Tell your story to the local television, radio or newspaper
  • Share your knowledge with doctors or at your hospital seminars
  • Set up exhibit booths at local health fairs or medical meetings
  • Assist the APF at national medical conventions
  • Volunteer your talents to help  achieve the APF patient educational projects
  • Host a community race or car wash to benefit APF physician education
  • Volunteer your skills, like computer skills, or business acumen
  • Host a Fun Run or Walk-A-Thon or even a Night Run or Twilight Walk
  • Share your story in the Member Story Section of the APF website
What are you going to do this year to raise awareness?

Go Local~ IF you need ideas, help or supplies from the APF please give us a call NOW were only a few short weeks away 1-866-apf-3635

                                     "Remember....Research is the key to your cure!"

Tuesday, March 22, 2016

NIH Overview of ALL Porphyrias

What is porphyria?

Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.
Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms.
The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.
Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.

How common is porphyria?

The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms.
Acute intermittent porphyria is the most common form of acute porphyria in most countries. It may occur more frequently in northern European countries, such as Sweden, and in the United Kingdom. Another form of the disorder, hereditary coproporphyria, has been reported mostly in Europe and North America. Variegate porphyria is most common in the Afrikaner population of South Africa; about 3 in 1,000 people in this population have the genetic change that causes this form of the disorder.

What genes are related to porphyria?

Each form of porphyria results from mutations in one of these genes: ALADALAS2CPOXFECH,HMBSPPOXUROD, or UROS.
The genes related to porphyria provide instructions for making the enzymes needed to produce heme. Mutations in most of these genes reduce enzyme activity, which limits the amount of heme the body can produce. As a result, compounds called porphyrins and porphyrin precursors, which are formed during the process of heme production, can build up abnormally in the liver and other organs. When these substances accumulate in the skin and interact with sunlight, they cause the cutaneous forms of porphyria. The acute forms of the disease occur when porphyrins and porphyrin precursors build up in and damage the nervous system.
One type of porphyria, porphyria cutanea tarda, results from both genetic and nongenetic factors. About 20 percent of cases are related to mutations in the UROD gene. The remaining cases are not associated with UROD gene mutations and are classified as sporadic. Many factors contribute to the development of porphyria cutanea tarda. These include an increased amount of iron in the liver, alcohol consumption, smoking, hepatitis C or HIV infection, or certain hormones. Mutations in theHFE gene (which cause an iron overload disorder called hemochromatosis) are also associated with porphyria cutanea tarda. Other, as-yet-unidentified genetic factors may also play a role in this form of porphyria.

How do people inherit porphyria?

Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria. Autosomal dominant porphyrias include acute intermittent porphyria, most cases of erythropoietic protoporphyria, hereditary coproporphyria, and variegate porphyria. Although the gene mutations associated with some cases of porphyria cutanea tarda also have an autosomal dominant inheritance pattern, most people with this form of porphyria do not have an inherited gene mutation.
Other porphyrias are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Porphyrias with an autosomal recessive pattern of inheritance include ALAD deficiency porphyria, congenital erythropoietic porphyria, and some cases of erythropoietic protoporphyria.
When erythropoietic protoporphyria is caused by mutations in the ALAS2 gene, it has an X-linked dominant pattern of inheritance. The ALAS2 gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may be sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. Males may experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Mutations in the UROD gene are related to both porphyria cutanea tarda and hepatoerythropoietic porphyria. Individuals who inherit one altered copy of the UROD gene are at increased risk for porphyria cutanea tarda. (Multiple genetic and nongenetic factors contribute to this condition.) People who inherit two altered copies of the UROD gene in each cell develop hepatoerythropoietic porphyria.

Where can I find information about diagnosis or management of porphyria?

These resources address the diagnosis or management of porphyria and may include treatment providers.
You might also find information on the diagnosis or management of porphyria in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about porphyria?

You may find the following resources about porphyria helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for porphyria?

  • Hematoporphyria
  • porphyrin disorder
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about porphyria?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding porphyria?

References (12 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.
Reviewed: July 2009
Published: March 14, 2016

Tuesday, March 15, 2016

Cutaneous Porphyrias: Porphyria Cutanea Tarda (PCT)

The Cutaneous Porphyrias

Cutaneous porphyrias primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria and X-linked protoporphyria, porphyria cutanea tarda, and hepatoerythropoietic porphyria.

Cutaneous Porphyrias: Porphyria Cutanea Tarda (PCT)

What is PCT?
PCT is a deficiency of the enzyme uroporphyrinogen decarboxylase. Cutaneous 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. PCT is often associated with hepatitis C infection, which also can cause these liver complications. However, liver tests are generally abnormal even in PCT patients without hepatitis C infection. Progression to cirrhosis and even liver cancer occurs in some patients.
Who gets PCT?
Porphyria cutanea tarda (PCT) is the most common type of porphyria, with a prevalence of approximately 1 case for every 10,000 people. PCT develops when the activity of an enzyme involved in synthesis of heme, uroporphyrinogen decarboxylase (URO-decarboxylase), becomes severely deficient (less than 20% of normal activity) in the liver. In most cases of PCT, patients do not have inherited URO-decarboxylase gene mutations and are said to have sporadic (or Type I) PCT (s-PCT) A URO-decarboxylase inhibitor generated only in the liver accounts for the severely deficient enzyme activity in s-PCT. About 20 percent of cases have familial (or Type II) PCT (f -PCT). Such individuals have inherited a URO-decarboxylase gene mutation from one parent, which has reduced the amount of URO-decarboxylase in all tissues from birth. However, to develop PCT symptoms, other factors must be present to further reduce URO-decarboxylase level in the liver to less than 20% of normal. Such f-PCT patients may develop blisters at an early age or have relatives with the disease. Excess iron and multiple other susceptibility factors contribute to the development of PCT. These susceptibility factors include excess use of alcohol, use of estrogens, chronic hepatitis C, smoking, HIV (human immunodeficiency virus) infections, and mutations of the HFE gene which is associated with the disease hemochromatosis in which excess iron accumulates in the liver. Other susceptibility factors exist but are as of yet unidentified.
What causes PCT?
PCT develops when the activity of the enzyme uroporphyrinogen decarboxylase (URO-decarboxylase) becomes severely deficient (less than 20% of normal) in the liver.
How is PCT Diagnosed?
The diagnosis of PCT can be made by finding an abnormally high concentration  of porphyrins in urine or plasma. Abnormally high porphyrins in feces may also be observed.
Patients with f-PCT usually have no family history of the disease, but can be recognized by finding half-normal URO-decarboxylase activity in red blood cells, or preferably by DNA studies.
What are treatments for PCT?
PCT, both familial and sporadic, can be treated either with regularly scheduled phlebotomies (removal of blood) to lower the amount of porphyrins in the liver or with a low dose regimen of hydroxychloroquine. In addition, the susceptibility mentioned above (see Who gets PCT?) need to be eliminated. PCT is the most treatable of the porphyrias. Treatment seems to be equally effective in f-PCT and s-PCT. Relapses that occur after the initial treatment can be treated in the same manner as the initial treatment.

                                     "Remember....Research is the key to your cure!"

Monday, March 14, 2016

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria is a disease of porphyrin metabolism characterized by abnormally elevated levels of protoporphyrin IX in erythocytes (mature blood cells), feces and plasma (the fluid portion of circulating blood), and by sensitivity to visible light.
This sensitivity manifests itself as a burning sensation in the skin, followed by varying degrees of erythema (redness of the skin due to capillary dilation) and edema (swelling caused by excess fluids). Consequently, patients with the disorder commonly avoid exposure of the skin to strong light. They tend to choose indoor occupations and nocturnal work, or to venture outdoors while heavily clothed to protect the skin.


EPP is diagnosed in patients with light sensitivity by testing blood and stool for the presence of abnormally high levels of protoporphyrin. Contrary to what is found in the other porphyrias, urine porphyrin levels remain within normal limits in EPP. When a smear of blood from a patient is examined under the fluorescence microscope, large numbers of red fluorescing erythrocytes are seen; these are not seen in persons who do not have this disorder. In addition, if the skin of the light-exposed areas of the body is examined under the light microscope, an amorphous homogeneous substance in and around the walls of small blood vessels of the upper papillary dermis will be seen. Histologic studies suggest that this substance is a neutral mucopolysaccharide, glycoprotein or mucoprotein. EPP is genetically transmitted as an autosomal recessive trait. Some relatives of patients may also have only slightly elevated levels of protoporphyrin but are asymptomatic, suggesting the existence of a carrier state.

Clinical Features

Most EPP patients experience the onset of photosensitivity before the age of six years and some as early as eighteen months. Patients report, in decreasing order of frequency, burning, swelling, itching and redness of the skin. After severe episodes of photosensitivity, some patients acquire shallow-depressed scars over the nose and cheeks and on the backs of hands. Some patients report only subjective symptoms of itching and burning and have no redness, swelling or scarring; these patients are often dismissed by their physicians as hypochondriacs, when in reality they have EPP. Thus, it is important for the physician to investigate for the presence of the disease in all patients who report itching and burning of the skin on exposure to light, even in the absence of objective findings. The amount of exposure to sun that a patient with EPP can tolerate varies from a few minutes to several hours. This photosensitivity is to light in the visible spectrum (400 to 700 nm). These wavelengths are not absorbed by window glass. Therefore, the symptoms can also develop from light passing through glass windows. About half of the patients report decreases in photosensitivity during winter. However, those engaging in skiing report that the light reflected by snow causes severe photosensitivity reactions. EPP is generally a benign disease. Many patients have somewhat decreased levels of hemoglobin and hematocrit (percentage of the volume of a blood sample occupied by cells). This finding usually requires no treatment. One reported case with severe hemolytic anemia (anemia caused by excessive destruction of red blood cells) improved after splenectomy (removal of the spleen). There also seems to be an increased frequency of cholelithiasis (presence of the formation of solid material in the gall bladder or bile duct), with several patients requiring cholecystectomy (removal of the gall bladder). Chemical analysis of the gallstones reveals high levels of protoporphyrin. To summarize, in EPP a decreased amount of the enzyme ferrochelatase leads to the accumulation of protoporphyrin in reticulocytes (young red blood cells that appear especially during regeneration of lost blood). This excess protoporphyrin leaks rapidly into the plasma from the maturing reticulocytes and young erythrocytes. The protoporphyrin is then partially cleared from the plasma by the liver and excreted into the bile (with or without some recirculation via the enterohepatic circulation). Accumulation of this protoporphyrin in the liver may lead, in rare cases, to serious liver disease.


Patients with EPP have found that topical sunscreens, which are effective in protecting against hypersensitivity to the sunburn spectrum of light, are ineffective as protective agents. Various systemic agents, such as antimalarials, inosine and vitamin E, have been tried but with little success. Orally administered pharmaceutical grade beta-carotene has been found to improve the photosensitivity associated with the disease. The majority of patients are able to increase their ability to tolerate sunlight by at least three times after taking beta carotene. (LUMITENE, Tishcon Corp., 60 to 180 mg per day, by mouth.) No side effects have been reported other than transient loose stools in a few patients and carotenodermia (yellowing of the skin), which was not cosmetically offensive to the majority of the patients. To order [url=/testing-and-treatment/medications-for-porphyria/lumitene]LUMITENE[/url] by email, contact [][/url]. It is important for EPP patients to ingest the proper formulation of beta-carotene to obtain its greatest beneficial effect. It is also important to make sure that the preparation is a pharmaceutical grade formulation. The form having the highest effective absorbtion is the "dry beta carotene beadlets, 10" manufactured by Hoffmann-LaRoche. These are used in LUMITENE, the Tishcon Corporation's preparation previously discussed. You may order LUMITENE directly from E.P.I.C., a subsidiary of the Tishcon Corporation. Their telephone number for EPP patients calling from within North America is 1-800-866-0978. Vitamin A toxicity will never occur from the ingestation of high doses of beta-carotene. Please also note that preparations using beta-carotene crystals dissolved in vegetable oil are not suitable for use in treating EPP because these preparations are erratically absorbed by the body. A high intake of carotenoid-containing foods as a method of obtaining high levels of blood and skin carotenoids is not recommended. Toxic reactions, such as leukopenia (any situation where the number of leukocytes in the circulating blood is less than normal) and methemoglobinemia (presence of metheglobin in the blood) occur in those who ingest large quantities of vegetables in the amounts that would be necessary to obtain a protective effect. When purified beta-carotene is used, neither of these toxic reactions has occurred, indicating that the reactions were probably due to the non-carotenoid constituents of the vegetables. Patients with EPP may develop liver abnormalities due to an excess deposition of protoporphyrin in that organ. Hence, drugs that can impair bile flow, cholestasis, as well as estrogens, should be given cautiously. Cholestyramine ingestion may lower porphyrin levels in some patients. Some patients with EPP report that drinking alcoholic beverages increases their photosensitivity. It is probably wise for all EPP patients to avoid or greatly reduce alcohol consumption. Individuals with EPP may also need to wear protective clothing, such as garments with long sleeves and trousers: each one has to decide the amount of this sort of protection needed. Certain kinds of fabric, such as denim, are quite light protective. Also certain plastic materials, such as Scotchtint, filters out harmful rays and can be used on home and automobile windows.

Wednesday, March 9, 2016

2016 Pet Beauty Contest


Back by popular demand - we are hosting the 2nd Pet Beauty Contest. We can have FUN and FUNdraise to enhance Porphyria Awareness.

To enter the contest, all you need to do is mail or email your pet's name and photograph to the APF. Pigs, dogs, cats, hamsters, snakes, goats, cows, etc. - all pets are welcome, because all pets are beautiful!!! It is FREE to enter the competition! Your pet's photo will be posted on the APF website for all to see.

Once your pet's photo is on the website, ask friends to vote for your pet with a $1 donation per vote and return the votes to the APF by April 16th, the beginning of National Porphyria Awareness Week. You can collect your pet's votes individually or together and send them to the APF.

There are two categories of winners:
1. The pet who collects the most votes/donations;
2. The pet who gets the most people to vote/donate.

The winners will receive wonderful trophies and a story of their pet in the next newsletter and APF media sites. Let the FUN begin!!!!

4900 Woodway Dr, Suite 780, Houston, TX 77056

Visit the website for contest updates! Make sure to scroll down to see all of the entries as they are added!

"Remember....Research is the key to your cure!"

Monday, March 7, 2016

Can you attend? Patient Education Meeting in Houston, TX

Patient Education Meeting in Houston, TX

Don't forget about the next Patient Education Meeting in Houston, TX!

Date and Time: Monday, March 14, 2016, 6:30 PM CT

Location: 73 Saddlebrook Lane, Houston, TX 77024

*Presentation by World Renowned Porphyria Expert, Dr. Karl Anderson
*Meeting with the APF's Executive Director Desiree Lyon
*Opportunity to Participate in a Q & A Session
*Meet Friends who Share Your Experiences with Porphyria
*View the Latest Educational Material from the American Porphyria Foundation

You are welcome to bring family members and friends.

Please RSVP: 1.866.APF.3635 or

*Other APF members have scheduled patient meetings around the country for National Porphyria Awareness Week (April 16-23). Please let us know if you'd like to host a patient meeting in your area. More information on these meetings will be coming soon!

"Remember....Research is the key to your cure!"

Thursday, March 3, 2016

Updated Porphyria Overview please share

Porphyria is the umbrella term for a group of rare disorders that involve a particular molecule called ‘heme’ or ‘haem’. Heme contains iron and is used in metabolic processes throughout the body. Porphyria occurs when the body cannot convert naturally occurring compounds (called ‘porphyrins’) into heme.

While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system, depending on the specific type.

In most cases, the cause is a combination of genetic and environmental factors. More women than men are affected for reasons unknown. There is no cure but treatments are available to manage the symptoms. 


Symptoms vary from one type of porphyria to the next. Cases are generally classified into one of three groups, which include:
  • Acute porphyrias – the condition mostly affects the nervous system. The skin is occasionally affected. Symptoms may include muscle pain or paralysis, seizures, disorientation, hallucination, bloody (red) urine, hypertension and gastrointestinal problems such as vomiting, abdominal pain and constipation. Acute porphyrias generally occur during adulthood and are rare before puberty or after menopause. Different types of acute porphyria include ‘acute intermittent porphyria’ and ‘erythropoietic protoporphyria’.
  • Cutaneous porphyrias – the condition affects the skin but not the nervous system. The skin is highly sensitive to sunlight and exposure tends to trigger symptoms within minutes. Symptoms may include red, itchy, blistered, painful and swollen skin and bloody (red) urine. The condition may develop during childhood. Different types of cutaneous porphyria include ‘porphyria cutanea tarda’ and ‘hepatoerythropoietic porphyria’.
  • Neurocutaneous porphyrias – the condition affects both the skin and the nervous system. Sunlight exposure tends to rapidly trigger symptoms. Different types of neurocutaneous porphyria include ‘variegate porphyria’ and ‘hereditary coproporphyria’.
                        "Remember....Research is the key to your cure!"

Porphyrins build up in the body

The substance heme (or haem) is used in various metabolic processes. The body makes heme from porphyrins, which are metallic compounds found naturally in the tissues of animals and plants. The conversion of porphyrins into heme requires the action of special proteins called enzymes. Genes control the action of enzymes. A flawed gene (or genes) can stop the body from making one or more of these enzymes. This creates a lack of heme and a build-up of porphyrins, which causes the signs and symptoms of porphyria. 

Inherited genes

Most forms of porphyria are inherited, which means the genetic predisposition is passed from one generation to the next. The faulty gene interferes with the body’s ability to create one or more enzymes necessary in the conversion of porphyrins into heme. The pattern of inheritance may include:
  • Autosomal dominant inheritance – the faulty gene is inherited from one parent. This faulty gene overrides the healthy gene inherited from the other parent.
  • Autosomal recessive inheritance – the faulty gene is inherited from both parents.
However, about nine in every 10 people with the faulty gene or genes don’t have porphyria. It appears that an environmental trigger is needed to allow porphyria to develop. 

A range of triggers

Various triggers can prompt the development of porphyria. While the factors in the following list may seem to have nothing in common, each one demands increased heme production, which overwhelms the body’s ability to deal with the increased levels of porphyrins. 

Common triggers include:
  • Prescription drugs such as barbiturates, tranquillisers, sedatives, oral contraceptives and some types of antibiotics
  • Female sex hormones
  • Sunlight
  • Alcohol
  • Cigarette smoking
  • Infection
  • Surgery
  • Fasting.
Common complications
Without medical treatment, complications of porphyria may include:
  • Permanent hair loss
  • Skin scarring
  • Permanent skin pigmentation changes
  • Dehydration
  • Breathing problems
  • High blood pressure (hypertension)
  • Low salt levels in the blood (hyponatremia)
  • Kidney failure
  • Liver problems, which may require a liver transplant in severe cases.


Since porphyria is rare, most doctors are unfamiliar with it and may not recognize the symptoms. Diagnosis can be delayed because porphyria mimics the symptoms and signs of various other medical conditions such as Guillain-Barre syndrome, eczema, multiple sclerosis and irritable bowel syndrome. Diagnostic tests may include:
  • Physical examination
  • Medical history
  • Urine tests to check for elevated substances including porphyrins
  • Blood tests to check for high levels of porphyrins in the plasma
  • Stool sample to check for excreted porphyrins
  • Genetic test.

Treatment – acute porphyria

Treatment may include:
  • Pain medication
  • Addressing the underlying cause – for example, prescribing antibiotics to treat an infection or ceasing a particular medication
  • Medication called ‘hematin’, which is a type of heme the body can use
  • Intravenous fluids and glucose
  • Admission to hospital in severe cases.

Treatment – cutaneous porphyria

Treatment may include:
  • Oral administration of activated charcoal, which helps to absorb excess porphyrins
  • Daily supplementation with beta-carotene (vitamin A) as part of long-term treatment.

Self-care options

Be guided by your doctor, but general suggestions include:
  • In all cases avoid known triggers – for example, don’t smoke.
  • When out in the sun, wear sunglasses, a brimmed hat, a long-sleeved top and long pants. Apply SPF 30+ sunscreen to exposed skin areas.
  • Protect your skin every day. For example, wear rubber gloves when handling chemicals or very hot water. Avoid perfumed soaps. Regularly apply barrier cream to the hands.
  • Eat regular meals and avoid alcohol.
  • You may like to consider wearing a medical alert bracelet or pendant, since surgery and some drugs can provoke symptoms.

Where to get help

  • Your doctor
  • In an emergency, call triple zero (000)
  • NURSE-ON-CALL Tel. 1300 60 60 24 – for expert health information and advice (24 hours, 7 days)
  • Porphyria Association Inc. Tel. (03) 9845 2737
  • Genetic Support Network of Victoria Tel. (03) 8341 6315
  • Australasian Genetic Alliance Tel. (02) 9211 1462

Things to remember

  • Porphyria is the umbrella term for a group of rare disorders that involve a particular molecule called ‘heme’ or ‘haem’.
  • Porphyria can affect the skin, nervous system, gastrointestinal system or all of these, depending on the specific type.
  • There is no cure, but medical treatment and lifestyle changes can usually manage the symptoms.

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