Alternate Names : Acute intermittent porphyria, Hereditary coproporphyria, Congenital erythropoietic porphyria, Erythropoietic protoporphyria
Symptoms & Signs
Porphyrias involve three major symptoms:
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.
Diagnosis & Tests
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) 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: