Saturday, April 29, 2017

#NPAW2017 Ryan Taal & EPP~ Let's storm the doors down!

I have suffered from EPP since I was born. Shortly after I was born, my parents went camping and had me out in the sun. I very quickly began screaming and my parents were unable to quiet me down. Issues with being in the sun have run in my family. One of my Omas has had symptoms her whole life as well as her brother and some other relatives of hers. Because of this, my parents knew quickly that I had to be kept out of the sun. One of my brothers also showed symptoms of EPP. When he was a few years old, a doctor he had been referred too had him tested for EPP. It was decided then that since he was diagnosed with it, and I had the same symptoms that I also had it. My parents were also told they should keep us inside and out of the sun as much as possible. They instead decided to leave it up to us. We decided to try and live normal lives. My friends all played soccer so I also began playing soccer. On occasion, I would wear a long sleeve shirt or wear a hat if I was playing in goal, but for the most part, I tried to look like the other guys on my team. I wore lots of sunscreen when I played, and we had started on Beta-Carotene. 
I have had hundreds if not thousands of reactions growing up. Many very minor with just some minor irritation on the skin or feeling a little heat, but I have also had some huge reactions. My worst reaction was the first time I tried skiing. We did not know much about the causes, so skiing in the winter seemed like a good idea. It was overcast so there wasn't much sun. It was winter so the sun wasn't as powerful. So my family decided on a weeklong ski trip with family friends. I loved skiing and spent most of the day in my ski school learning the basics and going down the bunny hill as fast as I could. That evening I was in a lot of pain but I would put bags of ice on and sit outside in the cold air. The next day I had liked skiing so much I decided to go out again, and that night I was in even more pain. We did the same thing each night and every day I always made my family take me to my class. I am known to be a bit stubborn. By the end of the trip my face has scabbed over. Under the scabs the pain went away over the next couple days and I was back out doing things.

 My parents took me to the zoo and struggled as they watched other kids and parents point and stare at the kid with scabs that were breaking open all over his face but I didn't notice and still remember how much fun I had that day. After that we learned that often the UV light is magnified in overcast conditions and the snow bounces UV back up much like water on a lake. I had been in some of the worst conditions for my condition. As I got older I continued playing soccer. We learned that the type of beta-carotene I was on really was not that effective but we found another type and I had more success on that. I continued playing soccer and worked my way up to the top divisions for youth soccer in the city. I also found ways to do activities with my friends and family. For summer vacations we would often go camping in the mountains and my brother and I learned how to stay covered up so we could go on hikes or play around the campsite. I often wore long sleeve shirts or sweaters so I could hang out with my friends at school and many of them were very accepting of me despite having to avoid the sun or wear clothes that were odd for the conditions. 

When I was in grade 12 I gave going out to the mountains in winter another try and learned to snowboard, this time with my whole body fully covered, and since then I go out with my friends from time to time to ski or snowboard with no issues from the sun. I join my friends at their cabins on the lake in summer, often hanging out in the shade or covering up to go quad riding or dirt biking or to go shoot guns or many of the other things we get up to. They offer to take me out on the lake behind the boat as the sun is setting and I have learned to wakeboard, waterski, and wake surf. I have also gone out in the day wearing a full body wetsuit, and have gone surfing off of Canada's west coast wearing the same. I still react from time to time but not near as much as in the past. I have had the chance to live a life full of experiences, and have some great people in my life. I now compete in bobsleigh and race on one of the international circuits.

 I still need to be careful as the sport is technically outdoors, but it allows me to cover up easily without looking strange or out of place. I look forward to being able to access treatments in the future so I can worry less about the sun and be able to do more things I have wanted to in my life. But until then I will just keep finding new ways to experience things while dealing with my condition.

Let's storm the doors down!
In 2008, a group of patients accompanied Desiree to tell FDA about the many advantages about Scenesse (Afamelanotide). It has been more than 6 years and they are still dragging their feet, for no reason. Many of you want to reach out to Dr. Marcus for an update since we have heard nothing from our October meeting. Some of you want updates and others are demanding that the Scenesse (Afamelanotide) treatment be approved immediately. Whatever your goals are please write Dr. Marcus immediately. Becks Griff will be writing a letter to Dr. Marcus daily! Send your concerns to the address below.
Dr. Kendall Marcus
Director, Division of Dermatology and Dental Products
Food and Drug Administration
10903 New Hampshire Avenue
White Oak Campus, WO 22/Rm. 5202
Silver Spring, MD 20993
National Porphyria Awareness Week continues!
Dougie Spence decided to document his story via social media to bring about awareness for this rare disease and to bring hope to those affected. He will be sharing videos daily for the remainder of the week.
Here are the links:
Subscribe to his YouTube page to continue to watch.
Jacqueline Cory wearing an EPP T-Shirt designed by Cassie Tucker in support of awareness week! Thank you for sharing, Jacqueline!
The challenge of living with porphyria starts with how little is known about it among friends, family and the medical community. That is why National Porphyria Awareness Week is so important. It provides each of YOU with the opportunity to enhance porphyria awareness in your sphere of influence. Here are some suggestions for ways that you can help:
*SHARE knowledge about porphyria at your doctor's offices and local hospitals. You might suggest that they host a seminar or grand rounds on porphyria; ask if there is a local meeting where you can hand out materials.
*ASSIST at medical conventions or health fairs to educate family, friends, and physicians on porphyria.
*Tell your story to local media. Television, newspapers and community magazines are looking for human interest stories about people who have encountered a major illness and have undertaken the challenge.
*VOLUNTEER your talents or skills to help achieve the educational programs of the APF. For example, donate one of your paintings, sculpture, computer expertise, business acumen etc. for our fall raffle or to help APF.
*HOLD a community race, car wash or other fund raising activity.
*HONOR your loved one with a gift to the APF for a birthday, anniversary, holiday or memorial tribute.
*WRITE a letter to friends and family asking them to consider making a donation;
The APF can help you accomplish this goal by providing materials:
· Porphyria Brochures
· A Porphyria Live DVD
· Fact sheets
· A PowerPoint Presentation
· Information for Grand Rounds
· Ideas to set up Medical Seminars
· Ideas to exhibit at a Health Fair
· Information to gain press
· Doctor packets sent to your doctors
· Press Releases
Contact the APF TODAY for more information at 1.866.APF.3635!
"Remember....Research is the key to your cure!"

Friday, April 28, 2017

#NPAW2017 Kelly Story & PCT

Kelly Story

Porphyria Cutanea Tarda (PCT)

My name is Kelly Story and I live with my husband, Chad, and two cats in Kissimmee, FL. In July of 1999, one month after our wedding, I was out of town on business, and I noticed tiny little water blisters all over my hands. The blisters didn't itch and were not painful. Although I found them to be very odd, I didn't worry much.
Over a short period of time, my skin became extremely fragile. It seemed like almost anything would cause a scrape on the skin of my hands. Plus, the blisters got much worse. My hands looked like something out of a horror movie. I was so embarrassed all of the time, and I cried a lot. I went to a dermatologist. After two visits, he told me that he was fairly certain that I had PCT but suggested that I go to a specialist. After several humbling tests and weeks of waiting, I was officially diagnosed with PCT.
The doctor said that I would have to start phlebotomies. This meant that over a pint of blood would be taken from me at one time. Even after I began the phlebotomy treatments, the blisters moved to my arms. These blisters itched tremendously. My poor husband didn't know what was happening, because, I would wake up in the middle of the night with a frenzy of scratching and crying. The itching was unbearable. I would feel so guilty afterwards. After all, I was receiving treatment for my condition and knew that I did not have a fatal disease. There are other people in the world with so much more serious problems. But, it was still uncomfortable, and my hands and arms were just so ugly.
I was tired a lot during the six month or so period I was having the phlebotomies. The doctor said that I would most likely be temporarily anemic. This was the result of having the blood taken from me. I used to do aerobic exercises at least four times a week, but that stopped. I also got headaches quite often. Finally, I was in remission. No more cuts, no more blisters, and no more itching.
I lived for a while with the dark scars on my hands from all of the sores and blisters and several lighter ones on my arms. But now, the scars have faded tremendously. You can't see any on my arms, and the ones on my hands are very pale. It may sound vain, but I never thought I would have pretty hands again, and now I do. To this day, I still cringe if I accidentally knock my hand into something. But, I am always relieved when I look down and see no scrape or cut.
Since being diagnosed with PCT, I've taken estrogen and alcohol out of my life, and I try my best to stay out of the sun. It's hard living in Florida, but I just keep applying that good old sunscreen. I'm very blessed to have such a supportive husband. I told Chad on our first date that I was high maintenance. Boy, neither one of us knew how much!
                            "Remember.....Research is your key to a cure!"

It's National Porphyria Awareness Week!

Look at what's going on! 
It's National Porphyria Awareness Week!
We have been getting submissions on what people are doing to RAISE PORPHYRIA AWARENESS! See their efforts below!
Jared Ulmer (Porphyria J) was contacted by a student named Ashly from Whitehall High School in Mechanicsville, PA to share his story with Ashly's honors genetics class! Way to go Ashly!
Here is the link: 

John Krause chose to share his story on social media to raise porphyria awareness!

Here are some photos from people raising porphyria awareness!

Justin Hamilton created a Pic Collage to raise CEP Awareness!

Cassie Tucker and her son Mitchell created a T-shirt campaign to raise awareness for EPP! Cassie donated a portion of the proceeds to the APF! Thank you, Cassie and Mitchell!

Kristen Wheeden and her son Brady (EPP) wearing APF gear in support of NPAW!

Terri Witter wearing APF gear in support of NPAW!

Tammy Smith wearing APF gear in support of NPAW!

 Lina Rebeiz wearing APF gear in support of NPAW!

Lakeshia Johnson painted her nails purple in support of NPAW!

WOW! Thank you all for your continuing support in our National Porphyria Awareness Week efforts.  You can use anything in life to promote awareness!
Think about what you can do to heighten awareness! It's not too late!

National Porphyria Awareness Week provides each of YOU with the opportunity to enhance porphyria awareness in your local and medical communities.  
The APF can help you accomplish this goal by providing materials:
Porphyria Brochures
Porphyria Live DVD
Fact sheets
A PowerPoint Presentation
Information for Grand Rounds
Ideas to set up Medical Seminars
Ideas to exhibit at a Health Fair
Information to gain press
Doctor packets sent to your doctors
Press Releases
Contact the APF TODAY at 1.866.APF.3635 or 713.266.9617

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

Thursday, April 27, 2017

Abdul Waheed Butt CEP

Abdul Waheed Butt
Type of Porphyria: 
Congenital Erythropoietic Porphyria (CEP)

Hello I am from Pakistan. When I was born, I was completely all right.  After 2 months when my mother cut my nails, there was some water. My parents checked with a skin specialist who said that I had disease of skin, (Congenital erythropoietic PORPHERIA) Gunther disease.
Now my age is 21 , and there are no special effect on me .  Doctors say to avoid sunlight and that my body is completely fine.. Only my hands and mouth are affected from the disease.
If you can help me to get the treatment, I never forget your this faith work. God Bless U.

1. What is Congenital Erythropoietic Porphyria?

Congenital erythropoietic porphyria (CEP), also called Günther’s disease after the doctor who described it in 1911, is an inherited disease and the rarest of the main types of porphyria, In CEP the activity of an enzyme called uroporphyrinogen III synthase (UROS) is very low. This leads to increased production of porphyrins, called type I isomer porphyrins, from the bone marrow. These porphyrins accumulate in the body, especially in the red blood cells, and cause the problems associated with CEP.

2. How common is CEP?

CEP is extremely rare. As it is so rare, the exact number of people affected by CEP is not clear. It is estimated that about 1 in every 2 – 3 million people are affected by CEP. CEP can affect males and females equally, and any ethnic group.

3. What are the features of CEP?

Individuals with CEP may not have all of the features described here. Different individuals may have different severity of the disease. Usually, the disease shows itself soon after birth or in early childhood, but sometimes onset of disease is delayed until adolescence or early adulthood.
  • Red urine is usually the first sign noticed in newborn babies with CEP. This is due to the large amount of porphyrin passed in the urine. The intensity of the redness of the urine can vary from day to day.
  • The skin is very sensitive to light, especially direct sunlight or intense artificial light, such as the very bright light sometimes used to treat babies with jaundice. This causes the skin to become fragile and blister or ulcerate. This most commonly happens at sun-exposed sites, for example the backs of the hands, the face, ears and scalp. The skin may take longer to heal after injury or blistering, and become infected. Repeated blisters, wounds and ulcers can cause scarring in the skin and bald patches on the scalp.
  • Some individuals may develop darkening of sun-exposed skin.
  • Eyes may also be sensitive to bright sunlight or artificial light, which can cause ulcers and scarring of the eyes. With time some patients loose their eyelashes, which make their eyes prone to irritation from small particles of dust and fibres.
  • Anaemia (a low haemoglobin), which varies in severity, is another feature of CEP. Anaemia develops because porphyrin damages some red blood cells which are then removed and destroyed by an organ in the abdomen called the spleen. The symptoms of anaemia include feeling tired, short of breath following minimal exertion and looking pale. A blood test will confirm the presence of anaemia.
  • The spleen can gradually become bigger and cause worsening of the anaemia, and a reduction in the number of platelets (the blood cells that help to form blood clots to stop bleeding) and white cells (the blood cells that fight infections) in the blood leading to increased risk of bleeding (such as repeated nose bleeds) and infections.
  • Teeth are discoloured by porphyrin causing them to appear reddish brown, especially the milk teeth.
  • CEP can occasionally cause thinning of the bones (osteoporosis). Osteoporosis can lead to breakage of bones (fracture) following minimal injury.
  • Excess body hair may develop, especially on the face and backs of the hands.

4. How is CEP inherited?

The low UROS enzyme activity in CEP is due to alterations (mutations) in the UROS gene that codes this enzyme. Each individual has 2 copies of every gene, one inherited from their mother, and one from their father. To develop CEP, one has to have two copies of the mutated gene, one inherited from each parent as shown in the diagram. This form of inheritance is called “autosomal recessive” (“autosomal” because the gene concerned is not located on the sex chromosomes). Although the parents of individuals with CEP can pass on the mutated gene to one of their children, they themselves do not have the disease, because they also have one normal gene. Similarly, some brothers or sisters of the affected person may also inherit one mutated gene from one of the parents, but because they also inherit a normal gene from the other parent, they do not have CEP. Individuals who have one mutated gene and a normal gene (such as the parents, and 2 of the children in this diagram) are called ‘carriers’ of the disease.
Normal UROS gene = Normal UROS gene    Mutated UROS gene = Mutated UROS gene
Mum unaffectedDad unaffected
Uros gene
Unaffected childUnaffected childAffected childUnaffected child
When both mother and father are carriers, each of their (unborn) children will have a 1 in 4 risk of having CEP and a 1 in 2 risk of being a carrier. The risk that the child of a carrier will have CEP is extremely low, because their partner is very unlikely to be a carrier (the gene mutation that causes CEP is very rare in the general population), unless he/she is a close relative. All the children of someone with CEP will be carriers but are very unlikely to have CEP.

5. How is CEP diagnosed?

CEP may be suspected in children (or rarely adults) who present with the features described above. The diagnosis is confirmed by measuring porphyrin levels in the individual’s blood, urine and faeces. These samples need to be protected from light until tested. A blood sample may also be taken to look for genetic mutations.

6. Can CEP be diagnosed in pregnancy?

Testing for CEP in pregnancy is not offered routinely. However CEP can be diagnosed in pregnancy in families where there is already a child with CEP. In this situation, a test called “amniocentesis” is carried out at about 16 weeks of pregnancy. Alternatively, another test called “chorionic villus sampling” is carried out at about 12 weeks of pregnancy to collect blood cells from the placenta arising from the baby. These cells are then checked for the UROS gene mutations causing CEP.

7. Is there a cure for CEP?

Currently, the only available cure for CEP is a bone marrow transplant (BMT). This involves transplanting healthy bone marrow from another person (the donor) to that of the person with CEP (the recipient). Following successful BMT, the features of CEP such as photosensitivity and anaemia will resolve. However the scarring from previous damage to the skin is permanent.
For BMT to succeed, the bone marrow of the donor needs to be a good match with the recipient. BMT is a high-risk treatment where powerful treatments to suppress the recipient’s immune system are initially needed to prevent rejection. BMT is currently reserved for those severely affected individuals who have a matched bone marrow donor.

8. What other treatments are available for CEP?

The treatment of CEP is aimed at preventing scarring of skin and eyes, and treatment of the complications mentioned above. Some or all of the following measures may be needed:
  • Protection of exposed skin from direct sunlight is required to prevent blistering and scarring. Rigorous photoprotection should include the routine use of clothing, gloves, a broad brimmed hat, scarf, long sleeves, high collars and long trousers.
    Conventional sunscreens (that block ultraviolet light) are not effective in CEP where the photosensitivity is to visible light. Reflectant sunscreens formulated to reflect visible light from the skin surface are required. Tinted reflectant sunscreens are available which can be mixed to match the patient’s individual skin colour. Examples of reflectant sunscreen products available on prescription and from chemists include:
    - Ambre Solaire® lotion SPF 60
    - RoC total Sunblock® lotion SPF 25
    - Delph® lotion SPF25
    - Sunsense® Ultra SPF 60
    - Delph® lotion SPF 30
    - Uvistat® cream SPF 22
    - E45 Sun® lotion SPF25
    - Ultrablock® cream SPF30
    - E45 Sun® lotion SPF50
  • Curtains or blinds in the house and work place may be needed to reduce the intensity of visible light. Additionally, opaque window films may be applied to the windows of buildings and/or vehicles. It is important to confirm that any window film that you select for your vehicle is legally acceptable for driving laws within your country.
  • Cosmetic camouflage may be used to conceal scarring of the skin. (e.g. British Association of Skin Camouflage
  • The eyes should be protected from sunlight by the use of tinted, wrap-around sunglasses. Specialist care from an ophthalmologist may be needed.
  • Skin on light-exposed areas should be protected against minor trauma to prevent long-term scarring. This can be achieved by keeping the skin well moisturised and by wearing gloves.
  • Skin ulcers need to be kept clean, dressed appropriately and any infections treated with antibiotic creams or tablets to speed up the healing.
  • Repeated scarring of the skin, especially of the fingers, can restrict joint mobility. Regular, gentle hand exercises may help to delay or prevent this.
  • Advice from an occupational therapist may be needed in patients who develop restricted hand function due to scarring of the skin.
  • Blood transfusions may be needed to treat the anaemia. However, regular blood transfusions can result in iron overload. Treatment for iron overload involves a tablet or injection. Enlargement of the spleen may worsen the anaemia, necessitating removal of the spleen by an operation.
  • If thinning of the bones is detected (by x-rays and bone scans), treatment with tablets may be needed.
  • Good oral hygiene is important to prevent tooth decay. If opening the mouth is restricted due to scarring around the mouth, a soft children’s toothbrush or an electric toothbrush may be easier to use and cause less damage to the gums.

9. Will there be new treatments available for CEP in the future?

Research is underway to cure CEP with gene therapy. This would involve correcting the abnormality of the affected person’s gene. It is realistic to anticipate significant progress with this research during the next decade.

10. Can certain medications make CEP worse?

CEP is an erythropopietic porphyria which differs from acute hepatic porphyrias that can be made worse by certain medications. CEP is not made worse by any of these medications. Therefore, unless the person is allergic to a medication for any other reason, individuals with CEP have no restrictions in taking any form of medication that their health requires.

11. What other precautions do CEP patients need to take?

If an individual with CEP is having an operation, their internal organs will become exposed to very bright lights in the operating theatre. This may result in damage to tissues of internal organs, just like the skin blistering after exposure to bright light. The surgeon should be aware of this risk, in order to minimise the amount of light exposure, for example, by using special light filters.

12. Where can I get more information about CEP?

As CEP is a very rare condition, most general practitioners will have little experience of the condition. However, dermatologists and haematologists see most people with CEP and usually ask advice from a porphyria specialist centre that exist in most European countries.
If you are concerned about the likelihood of passing the condition onto your children, you may be referred to a geneticist or porphyria specialist centere for information.
Although there are a number of other sources of information, the majority of which are on the internet, they may not have been validated by porphyria specialists. Most give details about all the forms of porphyria. The content on this website is based on a consensus agreed by EPNET partners.

13. Acknowledgement

This Patient Information is based on the leaflet written by Dermatologist Dr R Katugampola, and includes information and experience gained from her clinical research study during which she interviewed and examined more than 20 CEP patients.
You are Rare Indeed.
                                  "Remember....Research Is The Key to Your Cure?"

Wednesday, April 26, 2017

My Journey with VP by Sean Albright

My porphyria story is a long and emotional one... I grew up having chest pain, vomiting and skin issues. nobody knew what was going on not even myself. I moved to Melbourne Florida when I was 16 and first heard about porphyria from the TV show House. My doctor's had tested for everything else so when I asked to be tested for porphyria they were fine with it. It came back with a VP diagnosis. I almost passed away due to wrong treatment for it. I now have my porphyria fairly in control and use my experience with porphyria and love of Motorsports to raise awareness for porphyria via racing. I have met some really cool people who have been here for support. a player​ for my local minor league hockey team has convinced me to start playing hockey. I know a few people who have porphyria and play hockey due to it being indoors.   I hope one day that those with porphyria are able to live more enjoyable lives
It took over 17 years for a proper diagnosis. I have received Panhematin at least once a month if not more. The American Porphyria Foundation has saved my life by letting me know the treatment I was getting was actually making me sicker and could kill me, the APF (American Porphyria Foundation) was also very helpful in me being able to find a new doctor who knew about porphyria and the proper treatment. When Sean is feeling well he enjoys raising awareness for the APF by iracing just take a look at his car.
Sean~Thank You for sharing a glimpse of what’s it’s like to go through with VP. 
For more information on Variegate Porphyria please visit


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

Learn all about VP Variegate Porphyria by the NIH

Other Names:
Porphyria variegate; VP; Porphyria, South African type; See More


Variegate porphyria is a form of hepatic porphyria most common in the white South African population. This autosomal dominant disorder may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity.[1][2] The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase.[3] Acute attacks are managed and may be prevented as in acute intermittent porphyria.[1]
Last updated: 7/19/2010

Episodes of acute variegate 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. Individuals with variegate porphyria may also develop cutaneous symptoms, including skin photosensitivity.[3]
Last updated: 7/19/2010
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
Signs and SymptomsApproximate number of patients (when available)Help
Hypopigmented skin patchesVery frequent
(present in 80%-99% of cases)
ScarringVery frequent
(present in 80%-99% of cases)
Thin skinVery frequent
(present in 80%-99% of cases)
Abnormal blistering of the skinFrequent
(present in 30%-79% of cases)
Cutaneous photosensitivityFrequent
(present in 30%-79% of cases)
Abdominal painOccasional
(present in 5%-29% of cases)
(present in 5%-29% of cases)
(present in 5%-29% of cases)
(present in 5%-29% of cases)
(present in 5%-29% of cases)

Last updated: 3/10/2017

Variegate porphyria is caused by mutations in the PPOX gene.[3] Mutations in the PPOX gene reduce the activity of protoporphyrinogen oxidase, allowing compounds called porphyrin precursors to build up in the body. These compounds are formed during the normal process of heme production, but reduced activity of protoporphyrinogen oxidase allows them to accumulate to toxic levels. More than 130 mutations in the PPOX gene have been identified in people with variegate porphyria. A particular PPOX gene mutation is found in about 95 percent of South African families with the disorder.[4]
Nongenetic factors such as certain drugs, alcohol, dieting, as well as other genetic factors that have not been identified, also contribute to the characteristic features of variegate porphyria.[4]
Last updated: 7/19/2010

Variegate porphyria is inherited in an autosomal dominant manner, 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.[1][3]
Last updated: 7/19/2010

The diagnosis of variegate porphyria is made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces.[1][2] The most sensitive screening test is probably a plasma porphyrin assay.[1]
Last updated: 7/19/2010

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Acute attacks are managed and may be prevented as in acute intermittent porphyria.[1][2] Hospitalization is often necessary for acute attacks. Medications for pain, nausea and vomiting, and close observation are generally required. A high intake of glucose or other carbohydrates can help suppress disease activity and can be given by vein or by mouth. Intravenous heme therapy is more potent in suppressing disease activity. It can be started after a trial of glucose therapy. However, the response to heme therapy is best if started early in an attack. Heme must be administered by vein. Panhematin is the only commercially available heme therapy for treatment and prevention of acute porphyric attacks in the United States. Heme arginate, which is marketed in some other countries, is another preparation of heme for intravenous administration.[5]
    Last updated: 7/19/2010

    Management Guidelines

    • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  
    • The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®.  Click the "document" link above to view these guidelines.

      Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

      Patient Registry

      • The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities. 

        For more information on the registry see:

        Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

        Organizations Supporting this Disease

          Social Networking Websites

          • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

            Organizations Providing General Support

              Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

              Genetics Resources

                Financial Resources

                • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

                  These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

                  Where to Start

                  • Genetics Home Reference (GHR) contains information on Variegate porphyria. This website is maintained by the National Library of Medicine.
                  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. 
                  • The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
                  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

                    In-Depth Information

                    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
                    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
                    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
                    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
                    • PubMed is a searchable database of medical literature and lists journal articles that discuss Variegate porphyria. Click on the link to view a sample search on this topic.

                      The following diseases are related to Variegate porphyria. If you have a question about any of these diseases, you can contact GARD.

                      Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
                      • I have just had my DNA report returned to find that I am a carrier of variegate porphyia as is my daughter. We both are asymptomatic. I am not South African Dutch. How many second generation and now third generation Americans are diagnosed yearly? If I have never had symptoms (age 65), will I have symptoms?See answer

                      1. Variegate Porphyria (VP). American Porphyria Foundation. 2010; Accessed 7/19/2010.
                      2. Porphyria, Variegate. National Organization for Rare Disorders (NORD). 2001; Accessed 7/19/2010.
                      3. Porphyria. Genetics Home Reference (GHR). 2009; Accessed 7/19/2010.
                      4. PPOX. Genetics Home Reference (GHR). 2009; Accessed 7/19/2010.
                      5. Acute Intermittent Porphyria (AIP). American Porphyria Foundation. 2010; Accessed 7/19/2010.

                      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...