Thursday, March 27, 2014

Global Porphyria Alliance What is it? Check it out!

Global Porphyria Alliance

APF members live all over the globe. We hope that they will soon be able to enjoy the same opportunity to communicate with one another, develop friendships, and learn about porphyria in their own language.
Out of concern for others with porphyria in countries around the world, we hope to place a translation of the For Physician's section of the website in specific languages. The first such translation is already available in Portuguese. This is an enormously important project, and it will require your help.
If you would like to help us extend a hand of friendship and understanding to our friends outside the English-speaking countries, or if you want more information about the Global Porphyria Alliance, please call us at 866-APF-3635 (866-273-3635).
"Remember....Research is the key to your cure!"

Wednesday, March 26, 2014

Notice News From Desiree Lyon

Notice. Along with the Palm Beach patient education meeting on april 5 , there will be other meetings throughout the year. Please watch the APF website for dates and cities .
Here are a few definite cites but approx. dates. More meetings and details to be Announced.


Boston, MA.  Nov 7-11


San Francisco, CA.  Dec. 6-9 


Houston, TX.  July 2,


Santa Rosa Beach, FL. (Between Destin and Panama City).  Oct 11-14. Or early June.
 
Los Angeles , CA.

Atlanta, GA.

Chicago, IL.

If you would like to be a part of these exciting Patient Education meetings please contact the American Porphyria Foundation at 866-apf-3635 or visit porphyriafoundation.com

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

Monday, March 24, 2014

DNA Testing at Patient Educational Meeting in West Palm Beach FL


DNA testing at Patient Educational Meeting in West Palm Beach, FL

Dear Members, Dr. Desnick will perform DNA testing during the patient educational meeting at Hyatt Place, West Palm Beach, FL on April 5. DNA testing will be offered for those of you who have a copy of the medical records or confirmed porphyria test results.
Do not miss an exciting opportunity to meet with the renowned porphyria experts Dr. John Phillips and Dr. Robert Desnick! If you still do not have a reservation, contact the APF: 866-APF-3635.

Details of the meeting:
APF Patient Education Meeting
April 5, 2014   3:00pm-5:00pm
Hyatt Place West Palm Beach/Downtown - Trinity Room
295 Lakeview Ave, West Palm Beach, FL 33401.
Seating is limited.



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


Sunday, March 23, 2014

What is VP? The Facts

Variegate Porphyria (VP)


This form of hepatic Porphyria is most common in South Africans of Dutch ancestry. It is relatively uncommon elsewhere. It is an autosomal dominant disorder and may produce acute attacks (as in AIP) as well as chronic skin photosensitivity. The deficient enzyme is protoporphyrinogen oxidase. In acute attacks, urine PBG is increased as in AIP. Diagnosis of latent carriers is made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces, or by DNA mutation analysis (see AIP). The most sensitive screening test for VP is probably a plasma porphyrin assay. In patients with skin manifestations, it is important to distinguish VP or HCP from PCT, because treatment by phlebotomy or low-dose chloroquine is ineffective in VP and HCP. Acute attacks are managed and may be prevented as in AIP.

“Remember…..Research is the key to your cure!”

Friday, March 21, 2014

All about EPP!

Erythropoietic Protoporphyria (EPP) or Protoporphyria



Erythropoietic Protoporphyria (EPP) or Protoporphyria
Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.  EPP can result either from mutations of the ferrochelatase gene (FECH), or less commonly the delta-aminolevulinic acid synthase-2 gene (ALAS2).  When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found on the X chromosome. 
Protoporphyrin accumulates first in the bone marrow in EPP, and then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It is not soluble in water, so is not excreted in the urine. 
EPP is the third most common type of porphyria, and the most common in childhood.  It causes very painful photosensitivity and can greatly impair quality of life.  Delay in diagnosis is greater than with any other type of porphyria. 
Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight, including sunlight that passes through window glass. This can cause mild to severe burning pain on sun-exposed areas of the skin.  Usually, these symptoms subside in 12 to 24 hours and heal without significant scarring. Blistering and scarring are characteristic of other types of cutaneous porphyria but are unusual in EPP.  Skin manifestations generally begin early childhood and are more severe in the summer.
There is an increased risk of gallstones, which contain protoporphyrin. Excess protoporphyrin can also cause liver damage.  Less than 5% of EPP patients’ severe liver damage and a condition caused protoporphyric hepatopathy that sometimes requires liver transplantation. 
Diagnosis and Genetic Counseling
EPP should be suspected in anyone with non-blistering photosensitivity especially when is it prolonged and beginning in childhood.  It is easy to make a diagnosis, or rule it out, once it is suspected. 
The diagnosis of EPP is established by finding an abnormally high level of total erythrocyte protoporphyrin, and showing that this increase is mostly free protoporphyrin rather than zinc protoporphyrin.  There is considerable confusion about which test to order.  Sometimes laboratories have measured only zinc protoporphyrin and reported results incorrectly as “protoporphyrin” or “free erythrocyte protoporphyrin (FEP)”.  Laboratories that measure total erythrocyte protoporphyrin, free protoporphyrin and zinc protoporphyrin and report results reliably are:
  • Porphyria Laboratory and Center, University of Texas Medical Branch at Galveston, 1-409-772-4661
  • Mayo Medical Laboratories, 1-800-533-1710 
  • ARUP Laboratories
Porphyrins are almost always elevated in plasma in EPP, but may be normal in mild cases.  Fecal porphyrins may be normal or increased. 
An experienced biochemical laboratory can usually distinguish between patients with EPP and XLP, because the former have much less zinc protoporphyrin in their erythrocytes.  This can be explained because in the marrow the enzyme ferrochelatase not only normally makes heme (iron protoporphyrin) from protoporphyrin and iron, but can also make zinc protoporphyrin, especially when excess protoporphyrin is present or iron is deficient.  However, this does not replace DNA studies. 
Rarely, EPP develops in adults in the presence of a bone marrow disorder such as polycythemia vera, and is due to expansion of a clone of red blood cell precursors in the marrow that is deficient in ferrochelase. 
DNA studies are important for confirming the diagnosis of EPP and XLP and for genetic counseling.  This should be completed first in a person known to have the disease, and the information about the mutations in that individual used to guide testing of family members. 
When EPP is due to a FECH mutation the inheritance is described as autosomal recessive.  It is most common to find that one severe mutation is inherited from one parent and another weak mutation inherited from the other parent.  The weak mutation is quite common in normal Caucasians, rare in Blacks and even more common in Japanese and Chinese populations.  This mutation is sometime referred to as “hypomorphic” because it results in formation of a less than normal amount of ferrochelatase.  But is does not cause EPP unless it is paired with a severe mutation.  The severe mutation is characteristic for an EPP family and is present in all affected individuals.  “Carriers” of the severe mutation are not affected because they do not have the weak mutation.  Affected individuals and unaffected carriers can transmit the severe mutation to the next generation.  Some of their children will have EPP if the other parent has a copy of the weak mutation.  Rarely, the weak mutation is absent in an EPP family and two severe mutations are found, with at least one producing some ferrochelatase. 
In XLP, mutations of the ALAS2 gene, which is found on the X chromosome, causes an increase in the production of the enzyme ALAS2 in the bone marrow.  Several of these “gain of function” mutations have been described in different XLP families.  In XLP protoporphyrin production exceeds that needed for heme and hemoglobin formation.  Like hemophilia and other X linked genetic diseases, XLP is more common in men.  Women have two X chromosomes and are usually not affected because they have a normal as well as a mutatedALAS2 gene.  Men have only one X chromosome and will be affected if they inherit an ALAS2mutation.  Women with an ALAS2 mutation will, on average, pass that mutation to half of their daughters (who will usually be unaffected carriers) and to half of their sons (who will be affected). 
Treatment and Management
1.  Sunlight protection
Protection from sunlight is the mainstay of management of EPP, and this is necessary throughout life.  Disease severity and porphyrin levels in erythrocytes and plasma probably remain high and relatively constant throughout life in EPP.  However, this has been little studied and more longitudinal observations are needed.  Life style, employment, travel and recreation require adjustment in order to avoid painful reactions to sunlight and even from exposure to fluorescent lighting.  For these reasons EPP can substantially affect quality of life. 
Protective clothing, including broad-brimmed hats, long sleeves, gloves and trousers (rather than shorts), is beneficial.  Several manufacturers specialize on clothing made of closely woven fabrics for people with photosensitivity. 
2.  Beta-Carotene (Lumitene Tishcon)
Beta-carotene is an over the counter product that was originally developed in a purified form as a drug for the treatment of EPP, and was shown to be effective by Dr. Micheline Mathews-Roth at Harvard University and others.  The pharmaceutical grade formulation is now distributed by Tishcon as Lumitene, and can be ordered by calling 1-800-866-0978 or via the website www.epic4health.com.  Other products are less standardized and reliable and are not recommended. 
Beta-carotene provides protection by quenching reactive oxygen products that form when protoporphyrin is activated in the skin by light.  It is important to take an amount that is adequate to be protective.  For more information about Lumitene, including a recommended dosing schedule, please see the Lumitene section of this website.

3.  Other considerations
In an occasional patient, protoporphyrin causes liver problems, so monitoring liver function is important. EPP patients should also not use any drug or anesthetic which causes cholestasis (slowing down bile flow), and should also avoid alcohol. Women should avoid medications containing estrogen (birth-control pills, hormone replacement therapy), and men should avoid testosterone supplements, as these substances can also have deleterious effects on the liver of a person with EPP.
Consult a specialist.  Because EPP is a rare condition, most physicians are not knowledgeable about it.  Primary care or Emergency Room doctors can contact EPP expert: Dr. Micheline Mathews-Roth, Harvard Medical School, 617-525-8249. The American Porphyria Foundation, 713-266-9617 can also provide further information. A Medic Alert bracelet with instructions to contact a specialist if needed is a worthwhile precaution. 
Yearly monitoring.  Testing to include erythrocyte total protoporphyrin, plasma porphyrin, complete blood counts, ferritin and liver function tests should be done yearly.  Porphyry levels are expected to be stable and liver tests to remain normal.  EPP patients may have evidence of iron deficiency, and an iron supplement may be advisable if the serum ferritin is below about 20 ng/mL. 
Vitamin D.  Because they avoid sunlight, EPP patients are likely to be deficient in vitamin D.  A vitamin D supplement with calcium is recommended for bone health. 
Liver protection.  It is important to avoid other causes of liver disease that might promote the development of liver complications from EPP.  Patients should avoid alcohol and other substances that might damage the liver, including many herbal preparations, and be vaccinated for hepatitis A and B. 
Surgical lights. Strong operating room lights can cause photosensitivity of the skin and even surfaces of internal organs.  Flexible membrane filters, such as CL5-200-X from Madico Co., are available to cover surgical lights and offer some protection.  This is especially important in EPP patients with liver failure, which causes even greater increases in protoporphyrin levels and photosensitivity. 
Drugs.  Drugs that are harmful in other porphyrias are not known to make EPP worse, but are best avoided as a precaution.  This may include estrogens and other drugs that might reduce bile formation.  A short course of a non-steroidal anti-inflammatory drug can provide some pain relief after an episode of photosensitivity, but can cause ulcerations of the digestive track especially with prolonged use. 
Laser treatment.  According to Dr. Roth, laser treatments for hair removal or eye surgery have not been a problem in EPP people.  But the doctor should be made aware of the diagnosis, and that laser output between 400 and 650 nanometers might be harmful. Before hair removal treatment, the doctor may irradiate a small area of the skin to be treated for the length of time it will take to do the hair removal to ascertain if the patient would react within the period of time that a reaction to sunlight would be expected in that patient.  
Children with EPP.  Avoiding sunlight can be difficult for children with EPP who have less sunlight tolerance than their friends.  Camp Discovery is an option for such children.  It provides a week-long summer camping experience of fishing, boating, swimming, water skiing, arts and crafts, and just plain fun for young people with skin disorders, and is sponsored by the American Academy of Dermatology.  Full scholarships, including transportation, are provided by the American Academy of Dermatology through generous donations of their members and other organizations. Members of the Academy are asked to recommend candidates for Camp Discovery, so ask your child's doctor about sending your child to Camp Discovery.
Disneyland and Disney World are responsive to people with sun sensitivity. They will provide a pass to enable you to enter attractions without waiting in line in the sun.
Disneyland
Go to "Town Hall" and explain your problem with photosensitivity. You should bring a physician's letter with you as well as an APF brochure explaining the type of Porphyria you have. The staff will ask you some questions about your limitations (e.g., whether or not you can climb stairs) and how many are in your group. Next time you return, be sure to bring the old card with you, as it will only take about half as long to go through the process on your next trip.
Disney World
Proceed to the "Guest Relations" office at any park (Magic Kingdom, EPCOT, etc.) and request the Special Assistance Pass.
Remember to bring a doctor's note and explanation of your condition, because it is not necessarily visible. People on duty may not be familiar with light sensitivity and its consequences.
Research Opportunities
Patients with EPP and XLP can participate in the research through the Porphyrias Consortium.  The American Porphyria Foundation has information on what research protocols are currently open. 
·         
The Porphyrias Consortium is conducting a Longitudinal Study to better define the natural history of the disease.  This study is currently open for enrollment of new patients. 
·         
The Porphyrias Consortium will be starting a pilot study soon on a drug that may lower porphyrin levels in EPP. 
·         
Clinuvel Pharmaceuticals is developing afamelanotide (Scenesse®) for the treatment of EPP.  This drug is given by injection and increases skin pigmentation.  Another study of this drug is expected to open within the next year. 
All patients with porphyria are encouraged to enter the Porphyrias Registry at the Porphyrias Consortium website.  A link to this website is found on the website of the American Porphyria Foundation.  Registration demonstrates to NIH that patients and their families think that research on porphyrias is important.  You can also ask that one of the 6 porphyria center in the Consortium contact you.

“Remember…..Research is the key to your cure!”

Tuesday, March 18, 2014

Resources for Acute Porphyria patients

If you have Acute type Porphyria and need additional resources for your Dr check these out below:

Resources for your patients

Encourage your patient to learn as much as possible about AIP by visiting these websites:

“Remember…..Research is the key to your cure!”

Thursday, March 13, 2014

EMA’s review of SCENESSE® extended to mid-2014

EMA’s review of SCENESSE® extended to mid-2014

Melbourne, Australia and Baar, Switzerland, January 30, 2014

Clinuvel Pharmaceuticals Limited (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) today announced that the European Medicines Agency has extended the marketing authorisation application (MAA) review period for its drug SCENESSE® (afamelanotide 16mg implant) to mid-2014. Clinuvel’s MAA for SCENESSE® is aimed at a preventative treatment of the orphan (rare) light-intolerance disorder, erythropoietic protoporphyria (EPP) in adult patients. Clinuvel filed the MAA with the Agency in February 2012.
“The review of a first-in-class drug, albeit for an untested disease in which light exposure plays a dominant role, was always going to be subject of a lengthy regulatory review,” Clinuvel’s acting Chief Scientific Officer, Dr Dennis Wright said. “In this case, the Agency has requested additional time to review the clinical data of the US Phase III study in EPP (CUV039) study which was submitted last year. The evaluation clock has been stopped until June 2014. During this time the company will work with the EMA to address any further questions which may arise.”
“The company has much confidence in the EMA’s approach to learn as much as possible about the clinical aspects of the disease and the clinical relevance of the treatment to patients,” Clinuvel’s CEO, Dr Philippe Wolgen said. “This extended review period will also allow time for EPP patients and expert physicians to share their experience with the EMA.”

 Clinuvel Pharmaceuticals Limited

“Remember…..Research is the key to your cure!”

Running over obstacles to raise Awareness for Porphyria

Running over obstacles to raise Awareness for Porphyria

 
Merideth McGinley
Merideth McGinley is a new APF member but is already a very active one.  Merideth says that the main goal of her fundraising event is to raise as much awareness for porphyria as possible. Merideth says, "My last visit to the hospital really opened up my eyes to how little medical professionals really know about the disease.  If my fundraiser can help just one person has an easier experience with getting diagnosed then I will feel like I truly accomplished something."  She goes on to say, "When I was 19 years old, I was diagnosed with Acute Intermittent Porphyria.  Since being diagnosed in 2008, I have been in and out of the hospital and it has made me realize many people along with medical professionals do not know what Acute Intermittent Porphyria is or how to treat it.  Read more…

I have decided to run in the Warrior Dash on August 3rd in order to raise money and awareness about this disease. Read more about the Warrior Dash at http://warriordash.com. All donations made on my APF FirstGiving  web page will go to the American Porphyria Foundation which is dedicated to raising awareness along with improving the health and well-being of individuals and families affected by Porphyria. All donations are greatly appreciated and can be made right through the APF FirstGiving site or by sending a check or credit card donation to the APF by calling Toll Free  866.APF.3635”

FirstGiving is a web platform that the APF has provided for Fundraisers and Awareness campaigns to make it easy for you and your contributors to use for promoting your campaign and accepting donations that go directly to the APF.
There is no cost to you to set up a Fundraising page under the APF account.
Visit http://www.firstgiving.com/fundraiser/meridethmcginley/warriordash to donate to Merideths Warrior Dash fundraiser and to become familiar with the First Giving platform.
 To set up a free Awareness/Fundraiser page go to http://www.firstgiving.com/americanporphyriafoundation


“Remember…..Research is the key to your cure!”

Wednesday, March 12, 2014

News, Views and Upcoming Events

Patient Education Meeting in Hyatt Place, West Palm Beach, Florida 
The American Porphyria Foundation will be hosting a patient education meeting in West Palm Beach, FL on April 5, 2014 from 3:oo pm to 5:00 pm EDT.

Dr. Robert Desnick and other renowned porphyria experts will be presenting and answering your questions. The meeting is a wonderful opportunity to meet face to face with the experts and ask your questions. It is also a great moment to meet and join other patients. If you are interested in participating, please contact the APF 1.866.APF.3635 or email at apfnatalia@gmail.com. You can also join a research project. To hear more about hot to get involved, please contact the APF.

Details of the meeting:
APF Patient Education Meeting
April 5, 2014  3:00pm-5:00pm
Hyatt Place West Palm Beach/Downtown - Trinity Room
295 Lakeview Ave, West Palm Beach, FL 33401.
Seating is limited.


New APF Video Is Coming Soon
We are glad to announce that last week the APF has produced a short video on porphyria. Dr. Lisa Kehrberg, a physician and an AIP patient, shared her personal experience dealing with the disease. Dr. Kehrberg discusses a classic porphyria attack along with pain and other symptoms. She further covers the importance of glucose and Panhematin as treatment options. The video will be available soon. Watch the APF news for updates!


Oops
Dear Subscribers, we have to correct a statement about PBG testing that we sent out last week in the e-news. Porphobilinogen (PBG) is not a porphyrin, but rather a precursor of porphyrins in your body. Normally, porphyrins are incorporated (or built) into heme, also an important part of hemoglobin. If this process is interrupted, PBG can build up in your body.



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

Sunday, March 9, 2014

Porphyria and YOU!





Do you or a family member have Porphyria?  Does a family member have it and you think you might to?  Do your symptoms seem to indicate Porphyria?  Email me if your interested in seeing how you can sign up for the RDCRN registry to see if you qualify for a research project, there are many studies for all types.  Will you consider joining, please email me Amy.APF@gmail.com

Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of porphyrins or porphyrin precursors. Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends on the type of porphyria.
The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light.
The symptoms and treatment vary significantly from one type of Porphyria to the next.
Porphyria symptoms arise mostly from effects on either the nervous system or the skin. Effects on the nervous system occur in the acute porphyrias (AIPADPHCP and VP). Proper diagnosis is often delayed because the symptoms are nonspecific. Skin manifestations can include burning, blistering and scarring of sun-exposed areas.
The porphyrias are rare diseases. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, porphyria cutanea tarda (PCT), is 1 in 10,000, the most common acute porphyria, acute intermittent porphyria (AlP), is about 1 in 20,000, and the most common erythropoietic porphyria, erythropoietic protoporphyria (EPP), is estimated at 1 in 50,000 to 75,000. Congenital erythropoietic porphyria (CEP) is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ALAD-deficiency porphyria (ADP) are documented.
EPP is the most common porphyria in childhood, and the one associated with the longest delays in diagnosis.
This section of our website includes basic information about symptoms, diagnosis and treatment of the eight types of Porphyria. You will also find information on diet and nutritionin porphyria and on the history of the disease.


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

Advance Care Planning- Prepare NOW!

Making decisions in health care and ethics. Why prepare?  Prepare for the unexpected. It seems we often go through the motions of prepar...