Porphyrias

Definition

Porphyrias are a group of rare disorders passed down through families, in which an important part of hemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.

Symptoms

Porphyrias involve three major symptoms:

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

Attacks can occur suddenly, usually with severe stomach 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.

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 severe electrolyte imbalances, low blood pressure, and shock.

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