Members & Followers

Tuesday, August 23, 2016

RSVP FOR EPP MEETING with the FDA 10/24/16 Info

Hello everyone! We are very excited about the number of people we have already had RSVP for the upcoming meeting at the FDA. While we finalize the details of the meeting, here are a few things to keep in mind. PLEASE read everything carefully and feel free to contact me if you have ANY questions!

THINGS TO KNOW FOR THE FDA MEETING FOR EPP:
1. The FDA Meeting is Monday, October 24th from 10AM – 4PM. The meeting will last the entire time, please plan your travel accordingly.

2. RSVPing to the APF DOES NOT register you for the FDA meeting. MAKE SURE you are registering at THIS LINK by October 17th, 2016. The same link is used for registering in person and via webcast.

3. Make sure your valid Driver’s License, State ID or USA Passport matches the name you register with! You will need to show proof of ID before entering the FDA meeting. If you have already registered and it does not, or you are unsure, contact the event organizer at meghana.chalasani@fda.hhs.gov.

4. If you have signed up for the meeting with the FDA, you should have received a confirmation email from EventBrite summarizing your registration information.

5. If you have ALSO signed up to participate in the panel during the meeting, you should have received a SECOND email from Meghana Chalasani (FDA meeting coordinator) with a list of discussion questions. The deadline to submit your reply for the panel is October 10th, 2016. You will be notified of your panel status at least a week in advance of the meeting. If you have signed up to speak at the panel, but did not receive this email, then you are not being considered for the panel. You must contact Ms. Chalasani to receive the questions.

6. The APF will be securing a room block for Sunday, October 23rd and Monday, October 24th at the Holiday Inn Washington – College Park. This is also where the APF meeting will be on Sunday, October 23rd.
Address: 10000 Baltimore Ave, College Park, MD 20740
BUT you are not required to stay here, you can stay anywhere! The FDA has a complete list of hotels in the area. http://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241747.htm 
**IMPORTANT**
The room block is NOT finalized at this time. We need to have an idea of how many of you will be using a room in the block and for which nights. Please let me know ASAP so we can sign the contract and finalize the hotel.

7. The APF meeting, with Dr. Robert Desnick, will be Sunday, October 23rd from 5PM – 7PM at the Holiday Inn – College Park. The room will be available starting at 2PM as an informal meeting space for attendees to mingle and get to know each other! Stop by and say hi to your fellow EPPers!

8. The FDA website has a FAQ section that includes detailed information about nearby airports and ground transportation: http://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241741.htm 

9. The FDA has a general page with information about attending public meetings at the FDA: http://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241740.htm 

If you have ANY questions, or just want to let me know how excited you are to attend, don’t hesitate to contact me! My email is Jessica@porphyriafoundation.org. We are so excited this is happening and I look forward to meeting you all in person (finally)! :)

Friday, August 19, 2016

HEP Type of Porphyria Read & Share

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

Monday, August 15, 2016

Dr. Peter Tishler's Retirement


The APF would like to extend wholehearted congratulations to esteemed porphyria expert, Dr. Peter Tishler, on his recent retirement.  Dr. Tishler has been a treasured member of the APF and our Scientific Advisory Board for many years and we THANK YOU for your invaluable service to the porphyria community!

We welcome his colleague, Dr. Joel Krier, to the APF.  Dr. Krier has been mentored by Dr. Tishler and we look forward to working with him.  If you are looking for a porphyria expert in the Massachusetts area, please contact the APF and we will gladly put you in touch with Dr. Krier.

Thank you, Dr. Tishler!  We wish you the best!








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


APF Announcements

The American Porphyria Foundation wants YOU to be aware that there are many trials going on in the Porphyria community.  

This is critical to learning more about the Porphyrias, and ultimately a cure.  Current steps for instance for those who suffer from EPP have a chance to meet with the FDA for approval soon of a new drug.  In addition, the Acute Porphyrias are being treatment for a new type of drug.  

We are always looking for those who are interested in participating in research answering questions, to travel and meeting with an expert or more importantly getting a better manageable system in place to manage your type of Porphyria.

Please use this link to learn more about the trials at the below links:

https://clinicaltrials.gov/ct2/results?cond=%22porphyria%22

http://rarediseases.org/

Also note:
If you have not become a member of the American Porphyria Foundation why not do so today. 
 Membership is free.  

 If you would like to make an annual contribution to the APF of $30.00 
you will benefit from the events, newsletters, enews and special announcements, meetings and patient gatherings.

The APF is a non-profit organization so your participation and support will go a long way in continuing the many fine education, and PTF (protect the future doctors)

Also we have many exciting items for sale you can look to the APF: www.porphyriafoundation.org

We have wonderful EPP & Acute ED Emergency guidelines books also available for a small fee please contact the APF 1/866/apf/3635

If you have not received your free patient kit or asked for your physician comprehensive Dr. Kit we would be most happy to send those out to you and your Doctor.  
Please contact the APF 1/866/apf/3635

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


Friday, August 12, 2016

Diagnosis & Management of the Porphyrias:Diagnosis & Management of the Porphyrias: Part 4

Diagnosis & Management of the Porphyrias:

Click on this link and tab to learn more about each type:

Diagnosis & Management of the Porphyrias:


These resources address the diagnosis or management of porphyria:
These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:
                   "Remember....Research is the key to your cure!"

Tuesday, August 9, 2016

Inheritance Pattern in Porphyrias Part 3

 Inheritance Pattern


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 hepatoerythropoieticporphyria. Individuals who inherit one altered copy of the UROD gene are at increased risk forporphyria 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 hepatoerythropoieticporphyria.
https://ghr.nlm.nih.gov/condition/porphyria#inheritance

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

Friday, August 5, 2016

Porphyria Genetic Part 2 https://ghr.nlm.nih.gov/condition/porphyria#genes Read & Share

Frequency: 
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.
Genetic Changes
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 produceheme. 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 porphyriaporphyria 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.
                                 
                                           "Remember....Research is the key to your cure!"