Porphyria

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Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme, a substance that is important in the body. The largest amounts of heme are in the blood and bone marrow, where it carries oxygen. Heme is also found in the liver and other tissues.

Multiple enzymes are needed for the body to produce heme. If any one of the enzymes is abnormal, the process cannot continue and the intermediate products, porphyrin or its precursors, may build up and be excreted in the urine and stool.

The porphyria disorders can be grouped by symptoms-whether they affect the skin or the nervous system. The cutaneous porphyrias affect the skin. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The acute porphyrias affect the nervous system. Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently.

The porphyrias are inherited conditions, and the genes for all enzymes in the heme pathway have been identified. Some forms of porphyria result from inheriting an abnormal gene from one parent (autosomal dominant). Other forms are from inheriting an abnormal gene from each parent (autosomal recessive). The risk that individuals in an affected family will have the disease or transmit it to their children is quite different depending on the type.

Attacks of porphyria can develop over hours or days and last for days or weeks. Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun.

Porphyria is diagnosed through blood, urine, and stool tests. Diagnosis may be difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. Each form of porphyria is treated differently. Treatment may involve treating with heme, giving medicines to relieve the symptoms, or drawing blood. People who have severe attacks may need to be hospitalized.

For More Information

American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 Phone: (713) 266-9617 Email: porphyrus@aol.com Internet: www.porphyriafoundation.com

National Organization for Rare Disorders Inc. (NORD) 55 Kenosia Avenue P.O. Box 1968 Danbury, CT 06813-1968 Phone: 1-800-999-6673 or (203) 744-0100 Fax: (203) 798-2291 Email: orphan@rarediseases.org Internet: www.rarediseases.org

American Liver Foundation 75 Maiden Lane, Suite 603 New York, NY 10038-4810 Helpline (24 hours, 7 days a week): 1-800-465-4837 or 1-888-443-7222 Phone: 1-800-676-9340 or (212) 668-1000 Fax: (212) 483-8179 Email: info@liverfoundation.org Internet: www.liverfoundation.org

Additional Information on Porphyria

The National Digestive Diseases Information Clearinghouse collects resource information on digestive diseases for the Combined Health Information Database (CHID). CHID is a database produced by health-related agencies of the Federal Government. This database provides titles, abstracts, and availability information for health information and health education resources.

To provide you with the most up-to-date resources, information specialists at the clearinghouse created an automatic search of CHID. To obtain this information, you may view the results of the automatic search on Porphyria.

If you wish to perform your own search of the database, you may access the CHID Online website and search CHID yourself.

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