What is porphyria?Porphyria is a term that refers to a group of disorders—the porphyrias—that affect the nervous system or skin, or both. Porphyria is used in the body to make heme, the part of the blood that carries oxygen. Unused porphryin in the body is excreted in the urine and stool.
What causes porphyria?If the body produces and excretes too much porphyrin, as happens with porphyria, not enough heme remains in the body to keep a person healthy. Most porphyrias are inherited disorders, meaning they are caused by abnormalities in genes passed from parents to children. Porphyria can be triggered by drugs such as barbiturates, tranquilizers, birth control pills, and sedatives. It can also be triggered by chemicals, fasting, smoking, drinking alcohol (especially heavy drinking), infections, hepatitis C virus, excess iron in the body, emotional and physical stress, menstrual hormones and exposure to the sun.
What are the symptoms of porphyria?Porphyria typically affects your nervous system or skin or both. The specific signs and symptoms of porphyria depend on which of your genes is abnormal. When porphyria affects the nervous system it can cause chest pain, abdominal pain, muscle cramps, weakness, hallucinations, seizures, purple-red-colored urine, or mental disorders like depression, anxiety and paranoia. When porphyria affects the skin, blisters, itching, swelling and sensitivity to the sun can result.
How is porphyria diagnosed?Doctors diagnose porphyria using blood, urine, and stool tests. Interpreting test results can be complex, and because porphyria is rare, many doctors have not seen cases of the disorder before, making it more difficult to diagnose. Initial tests may be followed by further testing to confirm the diagnosis.
How is porphyria treated?Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.
When to seek medical advice:See your doctor if you experience severe abdominal pain, muscle pain, confusion and disorientation, or if you experience itching, painful skin redness, skin swelling and blisters that appear within several minutes of sun exposure.
