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.

Signs and 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:

• Blood gases
• BUN
• Creatinine clearance
• Liver function tests
• Serum creatinine
• Serum potassium
• Tests to measure the level of porphyrins and other chemicals linked to this condition
• Urinalysis