When one porphyrin is present in very high amounts, it causes the urine to have a striking port wine colour after short exposure to light. The symptoms of porphyria fall into two major groups. Some patients have attacks in which the nerves of the body do not function properly. Abdominal pain and weakness result. Other patients have problems with the parts of the skin that are exposed to the sun and develop pain and swelling of the skin or blisters.
Treatment is available for both types of symptoms.
Rarely, some porphyrias cause severe liver damage, and occasionally liver transplantation is the only option. The disease can appear in childhood, but the onset is most often between the ages of 20 and 40. The disease affects men less often than women, in whom attacks are related to the menstrual cycle. Long latent periods may separate attacks, which can be precipitated by drugs, infections, alcohol consumption and dieting. Proper diagnosis and treatment of porphyria depends on chemical studies of the blood, urine and stool.