Tuesday, July 26, 2016

The Dateline NBC documentary "Out of the Shadows" featuring EPP has been nominated for an Emmy Award!

The Dateline NBC documentary "Out of the Shadows" featuring EPP has been nominated for an Emmy Award!  The APF received this great message from an NBC producer:
I'm excited to report that the show that you helped build, Dateline NBC's "Out of the Shadows," was nominated for an Emmy Award for Best Feature in a News Magazine. I can't thank you and the entire EPP community enough for all your help. The ceremony is in September. Fingers crossed!
*The APF would like to thank everyone involved in the creation of this episode.

Visit this website to view the official announcement:

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

Friday, July 22, 2016

Don't forget to mark your calendars for the next APF Patient Meeting Indianapolis

Next APF Patient Meeting Scheduled in Indianapolis

APF member Nichol Kirby invites you to a Patient Education Meeting in Indianapolis, IN!  We hope you will take advantage of this opportunity to meet friends who share your experiences with porphyria.  There will be a presentation and a Q & A session for all attendees.
Bring your friends and family!  We can't wait to see you all there!
Saturday, July 30, 2016
11AM - 1PM EDT
IU Health Simon Cancer Center
Healing Garden
1030 W. Michigan St.
Indianapolis, IN 46202
**Seating is limited so we ask that you please RSVP to Nichol at 317-749-7477 ornichol.kirby@gmail.com**
"Remember....Research is the key to your cure!"

Wednesday, July 20, 2016

FDA accepts SCENESSE® clinical data package for NDA submission

FDA accepts SCENESSE® clinical data package for NDA submission
Clinuvel prepares New Drug Application (NDA) for the treatment of erythropoietic protoporphyria (EPP) Executive summary: FDA concludes initial review of datasets on SCENESSE® in EPP FDA deems datasets satisfactory for submission of New Drug Application Pre-NDA meeting with FDA to be scheduled to discuss timelines and procedure Clinuvel will request rolling review of NDA under Fast Track designation Clinuvel to request Priority Review to shorten review from 10 to 6 months Clinuvel Pharmaceuticals [ASX: CUV; Nasdaq International Designation ADR: CLVLY; Xetra-DAX: UR9] today announced that the US Food and Drug Administration (FDA) has concluded an initial review of Clinuvel's clinical...

You may view the full Clinuvel announcement here:

This is great news for the EPP community!  We are on our way to approval of Scenesse/Afamelanotide.  Be sure to register to attend the FDA meeting to join us in our continued efforts to show the FDA how important it is for them to approve this drug in the US.
Date:            Monday, October 24th, 2016
Time:           10 am - 4 pm
Location:     FDA White Oak Campus
                      10903 New Hampshire Ave.
                      Building 31, Great Room
                      Silver Spring, MD 20993

*After you register, you will receive a confirmation email from the FDA with various questions to answer.*

PLEASE let the APF know you will be attending once you have finished registering online.  We will be hosting a gathering for everyone the evening before the meeting.  You may call the office at 866-APF-3635 or email us at porphyrus@porphyriafoundation.com.

*Please note that if you are unable to attend in person, there is an option for you to attend via webcast.*

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

Friday, July 15, 2016

Porphyria Television and other Media

Porphyria Television and other Media

The following is a list of Television, and Other Media that have featured Porphyria

Books and Papers
  • “On Porphyria and the Aetiology of Werewolves” by L. Illis', 1963, paper published in Proceedings of the Royal Society of Medicine January 1964
  • The Porphyrias by Geoffrey Dean, 1971
  • Vampires by Nancy Garden, 1973
  • "Porphyria, Vampires, and Werewolves: The Aetiology of European Metamorphosis Legends", paper by David Dolphin for the American Association for the Advancement of Science, 1985
  • Porphyrins and Porphyria by Y. Nordman, 1986
  • American Vampires: Fans, Victims, Practitioners by Norine Dresser, 1989
  • Porphyria by Tammy Evans, 1997               
  • Purple Secret: Genes, 'Madness' and the Royal Houses of Europe by John C. G. Rohl, 1999
  • Porphyria, A Lyon’s Share of Trouble by Desiree Lyon Howe, 2004
  • Royal Maladies: Inherited diseases in the royal houses of Europe by Alan Rushton, 2008
  • Porphyria: The Ultimate Cause of Common, Chronic, & Environmental Illnesses, 2nd Ed. by Steven Rochlitz, 2010
  • Ultimate Comics Avengers 3 #1, comic by Mark Millar, October 2010
  • Oscar Pistorius: The Possible Porphyria Factor by Steve Rochlitz, 2013

Magazines and Blogs
Pain News Network
Parade Magazine
  • Desiree Lyon Howe Story
  • Porphyria, Rare Disease Feature
National Geographic
New York Time Magazine & Blog

  • The King’s Speech (2010)
  • The Madness of King George (1994) & (2005) - film based on the 1991 Alan Bennett play “The Madness of George III”
  • Porphyria (2010

News Reports
ABC News Specials
  • Medical Mysteries Series, Episode 2
  • Interview with Desiree Lyon
ABC Nightline
ABC Prime Time
  • CEP Segment - Kasey Knauf
  • Royal Mystery Unraveled,  August 15, 2012
Anderson Cooper 360
  • CEP
BBC news
CNN iReport  
Dr. Drew
  • Mystery Illness - December 2012
Dr. Oz
  • EPP Patient - Craig Leppert
Fox News
  • Interview with Desiree Lyon
  • Vampires, A Medical Myth, November 2009
  • King George, Madness or Arsenic, July 2005
  • EPP with Dr. Herbert Bonkovsky July, 2015
Good Morning America
NBC Evening News
  • NBC Evening News, Thur. May 31 2005
  • Dr. Bruce Spielgaman WBZ, August 2005
  • Sunlight Allergy July, 2015
Sanjay Gupta 
USA Today

Television Shows
  • Vampire Weekend: Season 2, Episode 6
CSI Las Vegas
  • Justice Served: Season 1, Episode 21
  • Blood Moon:  Season 11, Episode 3
Dateline NBC
Diagnose Me
  • Ballerina Interrupted Season 1, Episode 4, May 8, 2015
Doc Martin
  • Uneasy Lies the Head: Season 4, Episode 2
Gray’s Anatomy
  • Time Warp: Season 6, Episode 15
  • The Socratic Method: Season 1, Episode 6
  • Honeymoon: Season 1, Episode 22
  • Fools for Love: Season 3, Episode 5 (mentions porphyria)
  • Finding Judas: Season 3, Episode 9
  • Don’t Ever Change: Season 4, Episode 12 (mentions porphyria)
  • Guardian Angels: Season 4, Episode 4 (mentions porphyria)
  • Whatever it Takes: Season 4, Episode 6 (mentions porphyria)
  • The Itch: Season 5, Episode 7
  • Emancipation: Season 5, Episode 8 (mentions porphyria)
  • Let Them Eat Cake: Season 5, Episode 10
  • Carrot or Stick: Season 7, Episode 10
  • You Must Remember This: Season 7, Episode 12
  • Bombshells: Season 7, Episode 15
  • Charity Case: Season 8, Episode 3
  • Post Mortem: Season 8, Episode 20
Learning Channel
  • Porphyria, Another Myth in the Making
Midsomer Murders  
  • Masterclass: Season 13, Episode 5  
Montel Williams
  • Porphyria with Lauren Warren
  • Rare Diseases with the Leppert Family
Mystery Diagnosis
  • The Sickest Patient in the Hospital and Terrifying Tremors: Season 5
  • The Boy Who Kept Swelling: Season 6 Episode 6
Mystery ER
  • Seeping Through the Cracks/Purple Haze: Season 1, Episode 3
Medical Mysteries
  • George III - Mad or Misunderstood, BBC, July 14, 2012
Saving Hope: 
  • The Great Randall: Season 1, Episode 6
Secret History
  • Purple Secret in Search of Royal Madness: Season 6, Episode 6
  • My Ocardial Infarction: Season 4, Episode 13
  • Kelso’s Last Stand: Season7, Episode 9
  • My Dumb Luck: Season 9, Episode 7
  • Outta here like Vladimir: Season 8, Episode 4
The Night Shift
  • ​Parenthood: Season 2 Episode 9
Travel Channel
  • Romania Documentary
X Files
  • “3”: Season 2, Episode 7
  • Bad Blood: Season 5, Episode 12

Over 100 local television stations have produced stories on individual patients.  There have also been a large number of articles on patients in local newspapers.   

Wednesday, July 13, 2016

EPP KIT? Do You have One? Get yours today


To help families and doctors manage EPP
• $30.00 for US residents
Essential education produced exclusively for EPP patients. The Kit includes:
  • EPP brochure and education. Important background information about EPP, management strategies, photosensitivity, and ways to avoid attacks.
  • ER Information Form. At-a-glance sheet for ER personnel to record your essential admission information.
  • List of leading APF EPP specialists and their contact information.
  • Sun Precautions catalog, including medical solutions for sun sensitive people.
  • Samples of light-protecting sun block and accompanying product information.
Order by calling the APF Office: Toll free: 1.866.APF.3635.

Monday, July 11, 2016

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

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

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 it is 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 mutated ALAS2 gene.  Men have only one X chromosome and will be affected if they inherit an ALAS2 mutation.  Women with an ALAS2mutation 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.  Contact The American Porphyria Foundation, 713-266-9617 for contact with an expert and to 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.
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.  

Friday, July 8, 2016

Nichol Kirby invites you to a Patient Education Meeting in Indianapolis, IN

APF member Nichol Kirby invites you to a Patient Education Meeting in Indianapolis, IN!  We hope you will take advantage of this opportunity to meet friends who share your experiences with porphyria.  There will be a presentation and a Q & A session for all attendees. 
Bring your friends and family!  We can't wait to see you all there!

Saturday, July 30, 2016
11AM - 1PM EDT
IU Health Simon Cancer Center
Healing Garden
1030 W. Michigan St.
Indianapolis, IN 46202

**Seating is limited so we ask that you please RSVP to Nichol at 317-749-7477 or nichol.kirby@gmail.com**

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

Thursday, July 7, 2016

Porphyrias 101 NIH Read & Share

What are porphyrias?

Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cells—red blood cells, white blood cells, and platelets.
The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.

What is heme and what does it do?

Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.

What are the types of porphyria?

Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:
  • Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.
  • Cutaneous porphyrias affect the skin.
Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.
Experts also classify porphyrias as erythropoietic or hepatic:
  • In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.
  • In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.
Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.
Table 1. Types of porphyria
Type of PorphyriaDeficient EnzymeMain Location of Porphyrin Buildup
 delta-aminolevulinate-dehydratase deficiency porphyria delta-aminolevulinic acid dehydratase liver
 acute intermittent porphyria porphobilinogen deaminase liver
 hereditary coproporphyria coproporphyrinogen oxidase liver
 variegate porphyria protoporphyrinogen oxidase liver
 congenital erythropoietic porphyria uroporphyrinogen III cosynthase bone marrow
 porphyria cutanea tarda uroporphyrinogen decarboxylase (~75% deficiency) liver
 hepatoerythropoietic porphyria uroporphyrinogen decarboxylase (~90% deficiency) bone marrow
 erythropoietic protoporphyria* ferrochelatase (~75% deficiency) bone marrow
*Protoporphyria XLPP is a variant of erythropoietic protoporphyria.

How common is porphyria?

The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1
1Pierach CA. Porphyrias. In: Bope and Kellerman, eds. Conn’s Current Therapy 2012. 1st ed. Philadelphia, PA: Saunders; 2011: 847–850.

What causes porphyria?

Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria.
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by
  • too much iron
  • use of alcohol or estrogen
  • smoking
  • chronic hepatitis C—a long-lasting liver disease that causes inflammation, or swelling, of the liver
  • HIV—the virus that causes AIDS
  • abnormal genes associated with hemochromatosis—the most common form of iron overload disease, which causes the body to absorb too much iron
For all types of porphyria, symptoms can be triggered by
  • use of alcohol
  • smoking
  • use of certain medications or hormones
  • exposure to sunlight
  • stress
  • dieting and fasting

What are the symptoms of porphyria?

Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include
  • oversensitivity to sunlight
  • blisters on exposed areas of the skin
  • itching and swelling on exposed areas of the skin
Symptoms of acute porphyrias include
  • pain in the abdomen—the area between the chest and hips
  • pain in the chest, limbs, or back
  • nausea and vomiting
  • constipation—a condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person
  • urinary retention—the inability to empty the bladder completely
  • confusion
  • hallucinations
  • seizures and muscle weakness
Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.

How is porphyria diagnosed?

A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care provider’s office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.

How is porphyria treated?

Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.

Acute Porphyrias

A health care provider treats acute porphyrias with heme or glucose loading to decrease the liver’s production of porphyrins and porphyrin precursors. A patient receives heme intravenously once a day for 4 days. Glucose loading involves giving a patient a glucose solution by mouth or intravenously. Heme is usually more effective and is the treatment of choice unless symptoms are mild. In rare instances, if symptoms are severe, a health care provider will recommend liver transplantation to treat acute porphyria. In liver transplantation, a surgeon removes a diseased or an injured liver and replaces it with a healthy, whole liver or a segment of a liver from another person, called a donor. A patient has liver transplantation surgery in a hospital under general anesthesia. Liver transplantation can cure liver failure. More information is provided in the NIDDK health topic, Liver Transplantation.

Cutaneous Porphyrias

The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. Other cutaneous porphyrias are treated as follows:
  • Porphyria cutanea tarda. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the arm. A technician performs the procedure at a blood donation center, such as a hospital, clinic, or bloodmobile. A patient does not require anesthesia. Another treatment approach is low-dose hydroxychloroquine tablets to reduce porphyrins in the liver.
  • Erythropoietic protoporphyria. People with erythropoietic protoporphyria may be given beta-carotene or cysteine to improve sunlight tolerance, though these medications do not lower porphyrin levels. Experts recommend hepatitis A and B vaccines and avoiding alcohol to prevent protoporphyric liver failure. A health care provider may use liver transplantation or a combination of medications to treat people who develop liver failure. Unfortunately, liver transplantation does not correct the primary defect, which is the continuous overproduction of protoporphyria by bone marrow. Successful bone marrow transplantations may successfully cure erythropoietic protoporphyria. A health care provider only considers bone marrow transplantation if the disease is severe and leading to secondary liver disease.
  • Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. With a blood transfusion, a patient receives blood through an intravenous (IV) line inserted into a vein. A technician performs the procedure at a blood donation center, and a patient does not need anesthesia.

Secondary Porphyrinurias

Conditions called secondary porphyrinurias, such as disorders of the liver and bone marrow, as well as a number of drugs, chemicals, and toxins are often mistaken for porphyria because they lead to mild or moderate increases in porphyrin levels in the urine. Only high—not mild or moderate—levels of porphyrin or porphyrin precursors lead to a diagnosis of porphyria.

Eating, Diet, and Nutrition

People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually.
People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure.
A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.
2National Research Council. Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids (Macronutrients). Washington, D.C.: The National Academies Press; 2005.

Points to Remember

  • Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain.
  • Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway.
  • The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.
  • Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent.
  • Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency.
  • Symptoms of cutaneous porphyrias include
    • oversensitivity to sunlight
    • blisters on exposed areas of the skin
    • itching and swelling on exposed areas of the skin
  • Symptoms of acute porphyrias include
    • pain in the abdomen
    • pain in the chest, limbs, or back
    • nausea and vomiting
    • constipation
    • urinary retention
    • confusion
    • hallucinations
    • seizures and muscle weakness
  • A health care provider diagnoses porphyria with blood, urine, and stool tests.
  • Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.

Clinical Trials

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other components of the National Institutes of Health (NIH) conduct and support research into many diseases and conditions.
What are clinical trials, and are they right for you?
Clinical trials are part of clinical research and at the heart of all medical advances. Clinical trials look at new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. Find out if clinical trials are right for youExternal NIH Link.
What clinical trials are open?
Clinical trials that are currently open and are recruiting can be viewed at www.ClinicalTrials.govExternal Link Disclaimer.
This information may contain content about medications and, when taken as prescribed, the conditions they treat. When prepared, this content included the most current information available. For updates or for questions about any medications, contact the U.S. Food and Drug Administration toll-free at 1-888-INFO-FDA (1-888-463-6332) or visitwww.fda.govExternal Link Disclaimer. Consult your health care provider for more information.

This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts.
The NIDDK would like to thank:
Herbert L. Bonkovsky, M.D., Carolinas Health Care System
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