Porphyria
(from the Foundation for Better Health Care, National Digestive Diseases Information Database)

Porphyria
Porphyria is a disorder in which the body produces too much of the chemical porphyrin. Porphyrin is used to make heme, the part of blood that carries oxygen. Heme also gives blood its color. Any circulating porphyrin the body doesn't use is excreted in urine and stool. When the body produces and excretes too much porphyrin, as happens with porphyria, not enough heme remains to keep a person healthy.

Porphyria affects either the nervous system or the skin. When porphyria affects the nervous system, it can cause chest pain, abdominal pain, muscle cramps, weakness, hallucinations, seizures, purple-red-colored urine, or mental disorders like depression, anxiety, and paranoia. When porphyria affects the skin, blisters, itching, swelling, and sensitivity to the sun can result.

Congenital erythropoietic porphyria (CEP), also known as Gunther's disease, is extremely rare. Unfortunately, its skin symptoms may be severe.

Sun exposure may lead to blistering, scarring, and increased hair growth. Affected skin may harbor bacteria, and facial features and fingers may be lost through sun damage and infection.

Hepatoerythropoietic porphyria is very rare, and similar to CEP in its symptoms of skin blistering.

Who can get it?
Porphyria is an inherited condition. Attacks of the disease can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, certain foods, and exposure to the sun.

How do you know you have it?
Porphyria is diagnosed through tests on blood, urine, and stool. It can be treated with medicines to relieve symptoms, a drug called hemin (which is like heme), or a high-carbohydrate diet.

More information:

American Porphyria Foundation
P.O. Box 22712
Houston, TX 77227
Tel: (713) 266-9617

National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-8923
Tel: (800) 999-6673 or (203) 746-6518
E-mail: orphan@nord-rdb.com
Home page: www.NORD-RDB.com/~orphan/

American Liver Foundation
75 Maiden Lane, Suite 603
New York, NY 10038
Tel: (800) GO-LIVER (465-4837)
E-mail: info@liverfoundation.org
Home page: www.liverfoundation.org/

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