Porphyria Overview

Q: What treatment and prevention are available?

A: Treatment depends greatly on the type of porphyria and can be quite successful. Preventive measures, which include avoidance of certain drugs and alcohol, are also important in those who are identified as having inherited porphyria, even if they have never had symptoms. Asymptomatic carriers as well as patients who have symptoms should be educated about preventive measures.

Q: Is porphyria progressive or lethal?

A: Unlike some genetic diseases in which all individuals who inherit an abnormal gene become ill, the severity of porphyria varies considerably. Such variability is due to certain "additional factors" other than the gene itself. Consequently, risks of severe medical difficulties or even death in the "acute" porphyrias are often diminished when affected individuals are well informed of their diagnoses and adopt suggested precautionary measures. Even with modern treatment and prevention, some patients still have repeated attacks. However, progressive deterioration and death from paralysis in the "acute" porphyrias are very unusual.

Q: Is sunlight always harmful?

A: Sun sensitivity can occur in all but two types of porphyria. The degree of sensitivity to sunlight varies considerably. Patients with sun sensitivity have high levels of porphyrins in the blood plasma which, depending on the type of porphyria, have originated from the liver or the bone marrow. Ultraviolet light interacts with porphyrins in such a way as to damage skin tissue. Some treatments may help patients tolerate sun exposure even without lowering porphyrin levels. In some cases, treatment can lower porphyrin levels, and sunlight can be tolerated.