Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. It occurs when one of the eight genes involved in the production of heme, the substance in hemoglobin that transports oxygen, has a mutation that is passed from parents to their children. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. Porphyrias affect the skin or the nervous system. The nervous system type is called acute porphyria.
Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with porphyria have a deficiency of certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body. Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.
People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. Being out in the sun can cause pain, sensations of heat, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. They may be disfiguring. Urine may turn red or brown after an attack. People with acute porphyria, the nervous system type, include symptoms such as pain in the chest or abdomen, vomiting, and diarrhea or constipation. Attacks may sometimes be life threatening because of the development of low blood pressure, severe electrolyte imbalances, or shock. Complications may occur such as comas, gallstones, paralysis, respiratory failure (due to weakness of chest muscles), and scarring.
To test for porphyria, people can get physical exams which includes listening to your heart. You may have a fast heart rate if you have porphyria. The tests may also find that may find that your deep tendon reflexes (knee jerks or others) do not work properly. Blood and urine tests may reveal kidney problems or other problems. Special tests...