Friday, May 27, 2016

SCENESSE® treatment in Europe

SCENESSE® treatment in Europe
German Porphyria Expert Centres to start distribution of SCENESSE® (afamelanotide 16mg) Clinuvel Pharmaceuticals Limited (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) today announced an update on the company's post-authorisation distribution of SCENESSE® (afamelanotide 16mg) across Europe for adult patients with the rare disorder erythropoietic protoporphyria (EPP).1 SCENESSE® in EPP SCENESSE® is the first approved treatment for EPP, a genetic disorder characterised by acute phototoxic reactions (anaphylactoid reactions and burns) and forced withdrawal from exposure to all forms of visible light. Clinuvel conducted clinical trials of SCENESSE® in EPP from 2006 to 2013.

You may view the full Clinuvel announcement, along with others, at this address:

The APF would like to take this opportunity to remind you how important it is to continue our fight for this revolutionary drug to be approved in the USA. 
PLEASE keep sending us your photos and stories.  We will not stop submitting your stories to the FDA.  Thank you for all you've done already!

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

Thursday, May 26, 2016

NORD and EPP: Micheline M. Mathews-Roth, MD, Associate Professor of Medicine, Harvard Medical School

Erythropoietic Protoporphyria

NORD gratefully acknowledges Micheline M. Mathews-Roth, MD, Associate Professor of Medicine, Harvard Medical School, for assistance in the preparation of this report.

Synonyms of Erythropoietic Protoporphyria

  • EPP
  • Erythrohepatic Protoporphyria
  • Protoporphyria

General Discussion

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. 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 skin may become itchy and red. Affected individuals may also experience a burning sensation on their skin. The hands, arms, and face are the most commonly affected areas. Some people with erythropoietic protoporphyria may also have complications related to liver and gallbladder function. Erythropoietic protoporphyria is inherited as an autosomal dominant genetic trait with poor penetrance.
Erythropoietic protoporphyria is one of a group of disorders known as the porphyrias. The porphyrias are all characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes essential to the synthesis of hemoglobin. There are at least seven types of porphyria. The symptoms associated with the various types of porphyria differ, depending upon the specific enzyme that is deficient. It is important to note that people who have one type of porphyria do not develop any of the other types.

Signs & Symptoms

The most common symptom of erythropoietic protoporphyria is hypersensitivity of the skin to sunlight and some types of artificial light (photosensitivity), with pain, itching, and/or burning of the skin occurring after exposure to sunlight and occasionally to fluorescent light. Affected individuals may also exhibit abnormal accumulations of body fluid under affected areas (edema) and/or persistent redness or inflammation of the skin (erythema). In rare cases, affected areas of the skin may develop sac-like lesions (vesicles or bullae), scar, and/or become discolored (hyperpigmentation) if exposure to sunlight is prolonged. However, scarring and/or discoloring of the skin is uncommon and rarely severe. These affected areas of skin may become abnormally thick. In addition, in some cases, affected individuals may also exhibit malformations of the nails. The severity and degree of photosensitivity is different from case to case. Photosensitivity is often seen during infancy; however, in some cases, it may not occur until adolescence or adulthood.
In some affected individuals, the flow of bile through the gallbladder and bile ducts (biliary system) may be interrupted (cholestasis) causing gallstones (cholelithiasis) to form. In turn, such stones can cause obstruction and/or inflammation of the gallbladder (cholecystitis). Rarely, affected individuals may also develop liver damage that, in very severe cases, may lead to liver failure requiring transplantation.
Symptoms usually start in childhood but diagnosis is often delayed since blistering is not common and, because the porphyrins are insoluble, they usually escape detection on urinanalysis. The diagnosis is made upon finding increased levels of the protoporphyrin in the plasma or red blood cells.


Erythropoietic protoporphyria is a rare disorder inherited as an autosomal dominant genetic trait with poor penetrance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. The risk is the same for each pregnancy.
The symptoms of erythropoietic protoporphyria develop due to excessive levels of a chemical called protoporphyrin that accumulates in certain tissues of the body (i.e., the plasma, red blood cells, and the liver). Excessive protoporphyrin levels occur as the result of abnormally low levels of the enzyme ferrochelatase (FECH).
There are several different allelic variants of erythropoietic protoporphyria. An allele is any of a series of two or more genes that may occupy the same position (locus) on a specific chromosome. Symptoms of these allelic variants of erythropoietic protoporphyria are predominantly the same; however, one type may be inherited as an autosomal recessive genetic trait.
The gene that is responsible for regulating the production of the enzyme ferrochelatase (FECH) has been located on the long arm of chromosome 18 (18q21.3). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”.
Some people who have inherited this defective gene may have slightly elevated levels of protoporphyrin in the body but will not exhibit the symptoms of erythropoietic protoporphyria.

Affected Populations

Erythropoietic protoporphyria is a very rare inherited disorder that affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 74,300 individuals. The onset of symptoms affecting the skin usually occurs in infancy; however, in some cases, onset may not occur until adolescence or adulthood. More than 300 cases of EPP have been reported in the medical literature.


The diagnosis of erythropoietic protoporphyria (EPP) may be made by a thorough clinical evaluation, characteristic physical findings, and specialized laboratory tests. EPP is usually diagnosed during infancy or early childhood, due to characteristic skin symptoms. The diagnosis may be confirmed by testing the red blood cells (erythrocytes) for increased levels of protoporphyrin.

Standard Therapies

Avoidance of sunlight will be of benefit to individuals with erythropoietic protoporphyria. The use of topical sunscreens, double layers of clothing, long sleeves, hats, and sunglasses will also benefit photosensitive individuals. Individuals with EPP may also benefit from window tinting or using vinyls or films to cover the windows in their car or house. Before tinting or shading car windows, affected individuals should check with their local Registry of Motor Vehicles to ensure that such measures do not violate any local codes.
In erythropoietic protoporphyria, a high potency form of oral beta-carotene (Lumitene, Tishcon) may be given to improve an affected individual's tolerance of sunlight. For more information on this treatment, contact the organizations listed at the end of this report (i.e., American Porphyria Foundation and the EPPREF) and Mr. George McShane of the Tishcon Corp. (1-800-848-8442). In some cases, the drug cholestyramine may be given to alleviate skin symptoms and lower the protoporphyrin levels in the body.
When iron deficiency is present, iron supplements may be given. A type of bile acid (chenodeoxycholic acid) may be prescribed to help the liver dispose of excess protoporphyrin, and activated charcoal or cholestyramine may be used to interrupt the circulation of protoporphyrin through the liver and intestines.
Estrogens and drugs that can impair bile flow should be given cautiously under the supervision of a physician. In addition, individuals with high levels of protoporphyrin in the plasma and red blood cells should be observed closely by a physician for possible liver malfunction that could eventually lead to liver failure.
Genetic counseling will be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at 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:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
The orphan product L-Cysteine is being tested for the prevention and reduction of photosensitivity in erythropoietic protoporphyria. More research is needed to determine the long-term safety and effectiveness of this drug for the treatment EPP. For more information, contact:
Micheline M. Mathews-Roth, M.D.
Channing Laboratory
Harvard Medical School
181 Longwood Ave
Boston, MA 02115-5804
(617) 525-8249
Red blood cell transfusions have also been used to treat some people with EPP. In some affected individuals with severe liver disease, liver transplantations have been performed. Extreme caution should be used by physicians considering these treatment options; each particular case should be evaluated on its own merits.

Wednesday, May 25, 2016

Porphyria Facts from the NIH: Read and Share Dr.Porphyria Expert Herbert L. Bonkovsky, M.D., Carolinas Health Care System

Porphyria Facts from the NIH: Read and Share
Dr.Porphyria Expert Herbert L. Bonkovsky, M.D., Carolinas Health Care System
On this page:
What are porphyrias?
What is heme and what does it do?
What are the types of porphyria?
How common is porphyria?
What causes porphyria?
What are the symptoms of porphyria?
How is porphyria diagnosed?
How is porphyria treated?
Eating, Diet, and Nutrition
Points to Remember
Clinical Trials
What are porphyrias?
Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cells—red blood cells, white blood cells, and platelets.
The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.
What is heme and what does it do?
Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.
What are the types of porphyria?
Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:
Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.
Cutaneous porphyrias affect the skin.
Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.
Experts also classify porphyrias as erythropoietic or hepatic:
In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.
In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.
Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.
Table 1. Types of porphyria
Type of Porphyria Deficient Enzyme Main Location of Porphyrin Buildup
delta-aminolevulinate-dehydratase deficiency porphyria delta-aminolevulinic acid dehydratase liver
acute intermittent porphyria porphobilinogen deaminase liver
hereditary coproporphyria coproporphyrinogen oxidase liver
variegate porphyria protoporphyrinogen oxidase liver
congenital erythropoietic porphyria uroporphyrinogen III cosynthase bone marrow
porphyria cutanea tarda uroporphyrinogen decarboxylase (~75% deficiency) liver
hepatoerythropoietic porphyria uroporphyrinogen decarboxylase (~90% deficiency) bone marrow
erythropoietic protoporphyria* ferrochelatase (~75% deficiency) bone marrow
*Protoporphyria XLPP is a variant of erythropoietic protoporphyria.
How common is porphyria?
The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1
1Pierach CA. Porphyrias. In: Bope and Kellerman, eds. Conn’s Current Therapy 2012. 1st ed. Philadelphia, PA: Saunders; 2011: 847–850.
What causes porphyria?
Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria.
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by
too much iron
use of alcohol or estrogen
chronic hepatitis C—a long-lasting liver disease that causes inflammation, or swelling, of the liver
HIV—the virus that causes AIDS
abnormal genes associated with hemochromatosis—the most common form of iron overload disease, which causes the body to absorb too much iron
For all types of porphyria, symptoms can be triggered by
use of alcohol
use of certain medications or hormones
exposure to sunlight
dieting and fasting
What are the symptoms of porphyria?
Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include
oversensitivity to sunlight
blisters on exposed areas of the skin
itching and swelling on exposed areas of the skin
Symptoms of acute porphyrias include
pain in the abdomen—the area between the chest and hips
pain in the chest, limbs, or back
nausea and vomiting
constipation—a condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person
urinary retention—the inability to empty the bladder completely
seizures and muscle weakness
Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.
How is porphyria diagnosed?
A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care provider’s office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.
How is porphyria treated?
Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.
Acute Porphyrias
A health care provider treats acute porphyrias with heme or glucose loading to decrease the liver’s production of porphyrins and porphyrin precursors. A patient receives heme intravenously once a day for 4 days. Glucose loading involves giving a patient a glucose solution by mouth or intravenously. Heme is usually more effective and is the treatment of choice unless symptoms are mild. In rare instances, if symptoms are severe, a health care provider will recommend liver transplantation to treat acute porphyria. In liver transplantation, a surgeon removes a diseased or an injured liver and replaces it with a healthy, whole liver or a segment of a liver from another person, called a donor. A patient has liver transplantation surgery in a hospital under general anesthesia. Liver transplantation can cure liver failure. More information is provided in the NIDDK health topic, Liver Transplantation.
Cutaneous Porphyrias
The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. Other cutaneous porphyrias are treated as follows:
Porphyria cutanea tarda. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the arm. A technician performs the procedure at a blood donation center, such as a hospital, clinic, or bloodmobile. A patient does not require anesthesia. Another treatment approach is low-dose hydroxychloroquine tablets to reduce porphyrins in the liver.
Erythropoietic protoporphyria. People with erythropoietic protoporphyria may be given beta-carotene or cysteine to improve sunlight tolerance, though these medications do not lower porphyrin levels. Experts recommend hepatitis A and B vaccines and avoiding alcohol to prevent protoporphyric liver failure. A health care provider may use liver transplantation or a combination of medications to treat people who develop liver failure. Unfortunately, liver transplantation does not correct the primary defect, which is the continuous overproduction of protoporphyria by bone marrow. Successful bone marrow transplantations may successfully cure erythropoietic protoporphyria. A health care provider only considers bone marrow transplantation if the disease is severe and leading to secondary liver disease.
Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. With a blood transfusion, a patient receives blood through an intravenous (IV) line inserted into a vein. A technician performs the procedure at a blood donation center, and a patient does not need anesthesia.
Secondary Porphyrinurias
Conditions called secondary porphyrinurias, such as disorders of the liver and bone marrow, as well as a number of drugs, chemicals, and toxins are often mistaken for porphyria because they lead to mild or moderate increases in porphyrin levels in the urine. Only high—not mild or moderate—levels of porphyrin or porphyrin precursors lead to a diagnosis of porphyria.
Eating, Diet, and Nutrition
People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually.
People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure.
A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.
2National Research Council. Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids (Macronutrients). Washington, D.C.: The National Academies Press; 2005.
Points to Remember
Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain.
Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway.
The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.
Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent.
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency.
Symptoms of cutaneous porphyrias include
oversensitivity to sunlight
blisters on exposed areas of the skin
itching and swelling on exposed areas of the skin
Symptoms of acute porphyrias include
pain in the abdomen
pain in the chest, limbs, or back
nausea and vomiting
urinary retention
seizures and muscle weakness
A health care provider diagnoses porphyria with blood, urine, and stool tests.
Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.
Clinical Trials
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other components of the National Institutes of Health (NIH) conduct and support research into many diseases and conditions.
What are clinical trials, and are they right for you?
Clinical trials are part of clinical research and at the heart of all medical advances. Clinical trials look at new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. Find out if clinical trials are right for youExternal NIH Link.
What clinical trials are open?
Clinical trials that are currently open and are recruiting can be viewed at www.ClinicalTrials.govExternal Link Disclaimer.
This information may contain content about medications and, when taken as prescribed, the conditions they treat. When prepared, this content included the most current information available. For updates or for questions about any medications, contact the U.S. Food and Drug Administration toll-free at 1-888-INFO-FDA (1-888-463-6332) or visit www.fda.govExternal Link Disclaimer. Consult your health care provider for more information.
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts.
The NIDDK would like to thank:
Herbert L. Bonkovsky, M.D., Carolinas Health Care System
This information is not copyrighted. The NIDDK encourages people to share this content freely.
February 2014

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

Monday, May 23, 2016

Quotes of Porphyria Read & Share

Please read and share
American Porphyria Foundation
Published by Rob Saupe'20 hrs
The old adage, No Pain, No Gain, may work well in certain instances, but for porphyria, No Pain, No Gain is a terrible maxim. Most patients agree that porphyrias do not fit within the mainstream of painful conditions, like broken bones, labor pains, muscle spasms, etc. Porphyria pain is so severe that it is difficult to explain, but the people below have used their own extraordinary descriptions. After you read their quotes, you will understand why porphyria has gained a reputation as one of the most painful diseases.

Victor Mejias (EPP) It itches and burns so bad it makes me climb the walls.
Emily Melone (AIP) It is like “charlie horses” in my intestines.
Mike Boone (AIP) I want to unzip my skin and step out. My ribs feel like they are being fileted.
Karen Eubanks (AIP) I am being kicked with a steel toed boot.
Kim Stala (EPP) My hands feet and face are in boiling water for days while a knife is cutting and twisting my in-sides.
Monique Jacobs (HCP) My skin is akin to jellyfish stings while my belly burns like a washing machine full of lava.
Steve Stevens (AIP) My rib cage feels like the lava inside a volcano with lightning bolts going off.
Tara Cantley (AIP) My arm feels like someone cut off the circulation with a tie.
Lisa McFarland (EPP) It's like sticking your hands in a vat of hot frying oil with no relief in sight.
Stacy Hermann (AIP) I feel confused, angry, and full of deep despair. I cry at nothing at all.
Rachel Shinn Olstad (HCP) My daughter says it is like a knife stabbing her thigh over and over.
Debbie Rohn (AIP) My daughter says it’s like getting stung by thousands of bees and peroxide in her veins.
Deb Miller Gilbert (VP) My nerve endings are firing all at once and I do not get a break from it. My nerves are so overstimulated that a loving hug from my son is excruciating.
Tara Cantley (AIP) Someone is squeezing my arms and legs until they go numb and nerves feel as if they're burning.
Theresa Flagg Jurls (PCT) An inflated object with steel spikes caught behind my right ribcage.
Rachel Johnson Keith (AIP) Demons are chewing their way out of my gut and standing in a pile of fire ants.
Nicole Marie DiRoma (AIP) Severe burning torch in my stomach, being pregnant for your whole life and muscle pain like a 500lb person sitting on you and won’t get off.
Rachel Ballew Campbell (AIP) It feels like someone is slicing your insides with a straight razor, while pouring hot lava through them. There really is no way to explain it.
Beverly Tuberville (AIP) Fire ants are all over.
Jennifer Taylor Nay (AIP) It feels like I am digesting glass shards.
Gregary Scott Allen Edwards (AIP) It’s like being run over by a steam roller, shot by tasers repeatedly, and hav-ing all my life force batteries drained instantly.
Terri Witter (AIP) I have a tummy full of broken glass.
Mary Schloetter (AIP) My bones feel like rolling in glass shards and acid moving through my veins. Episodes are called 'attacks,' I agree as I'm standing alone on a battlefield being hit with guns, cannons and tasers.
Christine R. Baer (AIP) I have a knife through the abdomen, and my insides have jitters and dancing and moving.
Lisa Coleman-Vinson (AIP) It’s like digesting huge, hot rocks with bone crushing pain.
Theresa Flagg Jurls (PCT) Steel spikes poking into my abdomen and ribcage, steel clamp gripped to pelvis.
Beth Nye (AIP) A 600lb person is sitting on my stomach and twisting it like a wet towel to remove all the water.
Nicki Theisen Maus (AIP) My insides feel like they're on fire!
Rogers Reyna (AIP) It’s like aliens use my back as a trampoline while chewing their way through my gut. The nerve pain burn is fire ants having a festival in my arms and legs!
Patty Harris (AIP) Firing swords of hell with demons eating their way through your stomach back, legs, arms, and head. Let’s face it, porphyria is burning hell.
Joe Mrsny (PCT) I look like I have leprosy because of the blisters breaking open. The itching is unbearable and causes scars and it usually comes at night so I am sleep deprived. The sun hurts. My finger nails fall off so I am unable to button my clothes. I just want to lay down and stay out of sight.
Whitney McCabe Stevens (HCP) Reality is, I can't accurately describe the pain of an attack because it is the most horrendous and overwhelming pain I have ever felt! On the pain scale of 1-10, it's 10,000. In my opinion, words simply can't accurately describe what we endure.
**These quotes can be found in the March 2016 Newsletter on the Apf website.…/Newsletter%20March%202…

Friday, May 20, 2016

2016 Honoree Rare Impact Awards- Desiree Lyon Howe

During a wonderful ceremony last night in Washington D.C., Desiree Lyon Howe, the Executive Director of the APF, was awarded the 2016 Rare Impact Award by the National Organization for Rare Disorders (NORD), which represents 23 million Americans with rare diseases. Desiree is grateful to receive this award and had a great time celebrating with her family, friends, and colleagues.  Desiree credits the success of the APF to the members and the Scientific Advisory Board.

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

Tuesday, May 17, 2016


Variegate porphyria (VP) is an autosomal dominant disorder that is a member of a family of disorders referred to as the porphyrias. Each disease in this family results from deficiencies in a specific enzyme involved in thebiosynthesis of heme (also called the porphyrin pathway). The term porphyria is derived from the Greek termporphura which means "purple pigment" in reference to the coloration of body fluids in patients suffering from a porphyria. The porphyrias are classified on the basis of the tissue that is the predominant site of accumulation of metabolic intermediates. These classifications are "hepatic" or "erythroid". Each disease is also further characterized as being acute or cutaneous dependent upon the major clinical features of the disease. VP results from defects in protoporphyrinogen oxidase. VP is classified as an acute hepatic porphyria. VP is also known by the names porphyria variegata, protocoproporphyria and South African genetic porphyria. The disease is quite common in South African whites (hence the related name of this disorder) with a frequency of 3 cases per 1000 persons. This high incidence has been traced to a founder couple who emigrated from Holland and were married in 1688.
The protoporphyrinogen oxidase gene (PPOX) is located on chromosome 1q22 spanning 8 kb and encompassing 194 exons that generate two alternatively spliced mRNAs, both of which encode the same 477 amino acid protein. Several different mutations have been identified in the PPOX gene resulting in VP. These mutations include missense, nonsense, and splice-site mutations as well as deletions and insertions. Except for the mutation found in the ancestors of the South African founder couple, most mutations in the PPOX gene are unique to each affected patient. The South African founder mutation is a missense mutation where tryptophan is substituted for arginine at amino acid 59 (R59W).

Reaction catalyzed by protoporphyrinogen oxidase

Reaction Catalyzed by Protoporphyrinogen Oxidase

Clinical Features of VP

The clinical manifestations of VP are highly similar to other acute porphyrias such as acute intermittent porphyria, AIP. The term "variegate" assigned to this particular porphyria relates to the fact that the disease can present with neurological manifestations, cutaneous photosensitivity or both. Common symptoms include cutaneous photosensitivity, abdominal pain, constipation, nausea, vomiting, hypertension, tachycardia, neuropathy and back pain. Disorientation and frank psychosis may be conspicuous features of VP. The symptoms of VP are rarely manifest prior to puberty. However, individuals homozygous for PPOX mutations exhibit severe clinical manifestations of VP at the outset of childhood. Clinical manifestation in VP becomes apparent in the event of an increased demand for hepatic heme production. This most often occurs due to drug exposure or some other precipitating factor such as an infection similar to the precipitating factors in AIP. If a drug is the cause of an attack its use should be discontinued immediately. Women using oral contraceptives are particularly susceptible to the cutaneous manifestations of VP. Most individuals (at least 75%) who inherit a PPOX mutation are asymptomatic throughout life.
Treatment of VP involves a high carbohydrate diet and during a severe attack an infusion of 10% glucose is highly recommended. Hemin arginate is used to treat acute attacks of variegate porphyria but is not effective in treating the cutaneous symptoms associated with the disorder.

Monday, May 16, 2016

APF 600 PAges sent to FDA Commissioner! Fight EPP

Last week the APF sent this stack of over 600 PAGES (2 and 1/2 inches tall) of EPP pictures and stories to the FDA Commissioner!  We have not slowed our efforts one bit and we will to continue to fight!  Keep sending us your personal stories, letters, photos, etc...  We need to keep putting pressure on the FDA!  Summer is HERE.  It is unacceptable that we do not have approval of Afamelanotide/Scenesse and we will not stop until we have achieved our goal.  Join the APF in fighting for this revolutionary treatment to be approved in the US!

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

Friday, May 13, 2016

Part 2 of Care giving (Important)

Part 2 of Care giving:  

The Caregiver also needs to stay well and balanced, physically, emotionally, mentally and spiritually.  This may require that they need a break.  Who would be able to come in and help?  Can I trust just anyone?  Asking for help or letting others help can take some of the pressure off you and allow you to take care of yourself.  Family and friends often want to help but may not know how or what you need.  Here are some tips for working with family and friends that have helped me and other porphyria patients:

  1. Look for the areas that may need help, buy making a list.
  2. Hold a regular family meeting to to keep everyone up to date. Very important to include the patient and let them express their wishes and concerns.
  3. Ask family and friends when they are able to help and what jobs they think they can do.  Be clear about what you need help with.
  4. When you do hear back from them, note it on your list and make sure they haven taken care of what was needed.
  5. Also show your appreciation to all family and friends for their continued support and help.

One thing that I have done with many people including myself is when sick and others help I keep a notebook by me who called, came to visit or help, and what he or she did, so that while it is fresh in my mind I can go back at a later time when i'm well to Thank them specifically for what they have done.

But, What if I mess up?.......

Stay tuned for my next blog
                                                    "Remember....Research is the key to your cure!"

Learn about ALAD Porphyria


aminolevulinate dehydratase

The ALAD gene provides instructions for making an enzyme known as delta-aminolevulinate dehydratase. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body's organs, although it is found mostly in the blood, bone marrow, and liver. Heme is an essential component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
The production of heme is a multi-step process that requires eight different enzymes. Delta-aminolevulinate dehydratase is responsible for the second step in this process, which combines two molecules of delta-aminolevulinic acid (the product of the first step) to form a compound called porphobilinogen. In subsequent steps, four molecules of porphobilinogen are combined and then modified to produce heme.
At least 10 mutations in the ALAD gene can cause a rare form of porphyria called ALAD deficiency porphyria. Most of these mutations change single protein building blocks (amino acids) in delta-aminolevulinate dehydratase. These changes reduce the activity of the enzyme, allowing delta-aminolevulinic acid to build up to toxic levels in the body. This compound is formed during the normal process of heme production, but reduced activity of delta-aminolevulinate dehydratase allows it to accumulate to toxic levels. Very high levels of this compound can cause attacks of abdominal pain, vomiting, and other signs and symptoms of ALAD deficiency porphyria.
  • 5-aminolevulinate dehydratase
  • 5-Aminolevulinate hydro-lyase (adding 5-aminolevulinate and cyclizing)
  • ALA-Dehydrase
  • Aminolevulinate Hydro-Lyase
  • aminolevulinate, delta-, dehydratase
  • Aminolevulinic Acid Dehydratase
  • delta-Aminolevulinate Dehydratase
  • delta-Aminolevulinic Acid Dehydratase
  • PBGS
  • Porphobilinogen Synthase

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...