The majority of those who possess the abnormal genes have no symptoms at all. Symptoms you are likely to notice Acute porphyrias produce sudden attacks of pain in the abdomen, back, or legs, followed by muscle weakness or paralysis , gastrointestinal distress, and mental disturbance. Symptoms are unlikely to appear before early adulthood as it takes many years for porphyrins to build up in organs. Symptoms may appear in response to particular drugs, including alcohol, barbiturates, and birth control pills, or during pregnancy. Cutaneous porphyrias cause itching , burning, blistering, and scarring of skin exposed to strong light.
Some forms combine symptoms of both types.
Symptoms your physician may observe All the porphyrias can be diagnosed from laboratory tests of urine, stool, and blood samples, even if there are no evident signs of disease. Accumulation of porphyrins in the liver , digestive system, nervous system, skin , and brain produce various forms of damage. The main way to avoid symptomatic attacks is to avoid triggers such as drugs or sunlight. Women with porphyria may wish to avoid pregnancy or be prepared for special needs during pregnancy. Mental problems caused by brain damage can sometimes be controlled or alleviated with drugs such as tranquilizers.