Porphyria is a hereditary disease and is caused by an error in a complex sequence of chemical reactions that the body ”uses” to produce hemoglobin. Because of this metabolic disorder, in some parts of the body occurs the accumulation of some chemical compounds – porphyrin – and usually in the liver and the digestive system, the brain and the nervous system, or in the skin.
Symptoms of the disease usually do not occur before the adulthood. Even then, they do not have to become obvious, unless if they are triggered by some factor, eg.. some medicines (or alcohol), pregnancy, or even exposure to sunlight. Symptoms vary greatly from case to case, depending on the affected part of the body, and include vomiting, abdominal pain, muscle cramps and weakness, psychological disorders such as depression or manic depression, or skin disorders such as blister development and itching . The attacks usually weaken after a few days, though some forms of illness may endanger reason, even life.
Porphyria is very rare. From those who were born with disease, three-fourths are men. Your doctor will usually not suspect you have this illness if there are no known cases in your family. The disease is generally determined by chemical tests of the urine or the stool. The treatment focuses on avoiding factors that may activate the disease and alleviate the symptoms; the basic genetic fault can not be corrected.
Thus, for example, certain drugs, foods or climatic conditions may be avoided. Psychiatric consequences can be reduced to the smallest possible extent by resting agents. Women need advice on contraception methods, as well as specialist care during pregnancy and after birth.
Self-help: some doctors believe that food with low content of saturated fat can reduce the level of fat – especially cholesterol – in the blood. Some experts do not agree with that; in spite of this, if you reduce the amount of fat in the food, you will prevent obesity.
Professional help: in serious cases, doctors sometimes prescribe drugs that reduce the cholesterol level in blood by increasing its secretion. Since cholesterol is excreted in the bile and excess cholesterol in the bile can cause gallstones, your doctor may prefer to avoid such medications.