Porphyria

Symptoms

Most symptoms of porphyria develop from the disorder's effects on the skin or nervous system. Some porphyria patients have reddish-colored urine caused by the presence of porphyrins and related substances; the urine may darken after being exposed to light. Nervous system symptoms occur only in acute porphyria.

Porphyria Cutanea Tarda (PCT)
Most carriers of porphyria cutanea tarda develop symptoms only after being exposed to a precipitating factor such as alcohol use, estrogens, iron, hemodialysis, or hepatitis C infection. The most common symptoms of PCT affect the patient's skin, which might be burned, blistered, or scarred, particularly when the hands or face are exposed to sunlight.

Acute Intermittent Porphyria (AIP)
The most common symptoms of AIP are abdominal pain (present in most patients), pain in other locations, nausea, vomiting, constipation, urine retention, muscle weakness, psychiatric symptoms (including hallucinations), and seizures. The most common clinical findings are a rapid heart rate, high blood pressure, slowed reflexes, and abnormal sensations. Patients with AIP may also have a fever and an elevated white blood cell count.

Erythropoietic Protoporphyria
Symptoms of erythropoietic protoporphyria usually begin in childhood. Extreme photosensitivity causes pain and swelling to develop soon after exposure to sunlight.