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Porphyria   

Overview | Symptoms | Treatment | Prevention

Alternative names:

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

Definition:

Porphyria is a group of inherited disorders involving abnormalities in the production of heme pigments (the base material responsible for hemoglobin (red blood cell pigment), myoglobin (reddish muscle cell pigment) and another group of materials called cytochromes. Porphyrias are characterized by three major findings: photodermatitis (light sensitivity causing rashes), neuropsychiatric complaints, and visceral complaints (e.g., abdominal pain, cramping).

Causes and Risks

The porphyrias may be inherited as either autosomal dominant (caused by inheriting one abnormal copy of the gene) or autosomal recessive (requires inheritance of two abnormal genes) traits depending on which type of porphyria is involved. Some types of porphyria have their onset in early childhood, some at puberty, and others during adulthood.

A classical attack of acute porphyria generally begins with colicky abdominal pain (severe), and is then followed by vomiting and constipation. Personality changes may develop during an acute attack, in addition to peripheral paresthesia (numbness and tingling), weakness, paralysis, sensory changes, and muscle pain. Acute attacks can be life-threatening, producing severe electrolyte imbalances, low blood pressure, and shock.

Urine may become red or brown following an attack. Exposure to sunlight can cause reddening, pain, sensations of heat, blistering and edema in the skin. These lesions heal slowly, often with scarring or pigment changes and can be disfiguring.

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