Porphyria

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Porphyria cutanea tarda on the hands

Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria

Porphyrias involve three major symptoms:

• Abdominal pain or cramping (only in some forms of the disease)
• Light sensitivity causing rashes, blistering, and scarring of the skin (photodermatitis)
• Problems with the nervous system and muscles (seizures, mental disturbances, nerve damage)

Attacks can occur suddenly, usually with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. They may be disfiguring. Urine may turn red or brown after an attack.

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Other symptoms may include:

• Muscle pain
• Muscle weakness or paralysis
• Numbness or tingling
• Pain in the arms or legs
• Pain in the back
• Personality changes

Attacks can sometimes be life threatening, producing:

• Low blood pressure
• Severe electrolyte imbalances
• Shock

Your doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks or others) do not work properly.

Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.

Some of the other tests that may be done include:

• Blood gases
• Comprehensive metabolic panel
• Porphyrin levels and levels of other chemicals linked to this condition (often checked in the urine)
• Ultrasound of the abdomen
• Urinalysis

Review Date: 02/28/2011
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).