AMERIAN PORPHYRIA FOUNDATION

Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of porphyrins or porphyrin precursors. Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends on the type of porphyria. The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some porphyria pa... tients may be reddish in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light. The symptoms and treatment vary significantly from one type of Porphyria to the next. Porphyria symptoms arise mostly from effects on either the nervous system or the skin. Effects on the nervous system occur in the acute porphyrias (AIP, ADP, HCP and VP). Proper diagnosis is often delayed because the symptoms are nonspecific. Skin manifestations can include burning, blistering and scarring of sun-exposed areas.More