Acute intermittent porphyria
Key points
- Porphyrias are characterized by three major findings: photodermatitis (light sensitivity causing rashes), neuropsychiatric complaints, and visceral complaints (such as abdominal pain or cramping).
- 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.
- Treatment During an acute attack, these treatments can be expected.
- Calling your health care provider Call your health care provider if you have any of the above symptoms suggestive of a porphyria.
Alternative names
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 (such as abdominal pain or cramping).
Causes, incidence, and risk factors
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 begin in early childhood, some at puberty, and others begin 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.
Symptoms
- Red urine
- Sensitivity to sunlight
- Blister (bulla) formation on exposure to sunlight
- Skin swelling (edema) on exposure to sunlight
- Photodermatitis
- Crampy abdominal pain (may be extremely severe)
- Constipation
- Vomiting
- Pain in the limbs
- Pain in the back
- Personality change
- Numbness or tingling
- Muscle pain
- Muscle weakness or paralysis
Signs and tests
- Tachycardia
Written and revised by
Gerald Hurowitz, M.D.
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