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Porphyria

Condition Overview:

Porphyria is a group of inherited disorders caused by the abnormal production of heme. Heme is an essential compound found in all body tissues but especially in the liver and red blood cells.

Normally, chemical compounds called porphyrins are converted into heme. But in porphyria, this doesn't occur due to a deficiency in one of the many enzymes involved in making heme. As a result, porphyrins build up in the body and are excreted in the urine and stool in excessive amounts. Signs and symptoms of porphyria depend on which specific enzyme is involved.Most types of porphyria are inherited as an autosomal dominant defect. This means you only have to inherit one copy of the abnormal gene to be affected by the disease. If you have the gene defect, you have a 50 percent chance of developing the disease. Two common types of porphyria are:

Acute intermittent porphyria (AIP). This rare disorder occurs most often in women between the ages of 20 and 40. Signs and symptoms include abdominal pain, constipation, vomiting, muscle weakness and hallucinations, high blood pressure, increased heart rate, and decreased reflexes. People with AIP may also have a fever and elevated white blood cell count.
Porphyria cutanea tarda. This is the most common type of porphyria. It primarily affects the skin. Signs and symptoms include light sensitivity (photosensitivity), causing blisters and itching, slow wound healing, premature aging of the skin, and mottled pigment.

A doctor may confirm a diagnosis of porphyria by special blood, urine or stool tests that measure enzyme levels. There's no cure for porphyria. Treatment is directed at managing the signs and symptoms. Acute attacks of AIP require prompt medical attention.