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What is porphyria?



Porphyria is a group of inherited disorders caused by the abnormal production of a substance in the body called heme. Most types of porphyria are inherited in an autosomal dominant pattern, which means a child needs to inherit the defective gene from only one parent to develop the disease.

Heme is found in all body tissues but especially in the liver and red blood cells. Multiple enzymes are required for your body to convert chemical compounds called porphyrins into heme. If any of the enzymes are abnormal, the process cannot continue and porphyrins may build up in the body and be excreted in the urine or stool.

Signs and symptoms of porphyria depend on which specific enzymes are affected but often involve the nervous system or skin. Two major types include:

  • Acute porphyria. Acute porphyria affects the nervous system. Signs and symptoms appear intermittently and may include pain in the chest, abdomen, arms, legs or back; muscle numbness, tingling, paralysis or cramping; vomiting; constipation; and personality changes or mental disorders.
  • Cutaneous porphyria. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight.

A diagnosis of porphyria may be confirmed by special blood, urine or stool tests that measure enzyme levels. There is no cure for porphyria. Treatment depends on the type of porphyria and may include heme therapy and medications to manage signs and symptoms. Severe attacks may require hospitalization.

Last Updated: 03/15/2006
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