MamasHealth.com Home Blood Diseases Agnogenic Metaplasia Amyloidosis Aplastic Anemia Diabetes Hematuria Hemolytic Syndrome Hemophilia Hypercalcemia Hyperglycemia Hypoglycemia Iron Deficiency Anemia ITP Leukemia Mastocytosis Multiple Myeloma Myelodysplastic Pernicious Anemia Polycythemia Vera Porhyria Sepsis Sickle Cell Anemia Thrombocytopenia Thrombophlebitis Von Willebrand's Disease Wegener's Granulomatosis Links Email Mama How to Switch Careers in Midlife Sign up for the MamasHealth Newsletter	What is Porphyria? Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme. Heme is a substance that is important in the body. The largest amounts of heme are in the blood and bone marrow. Porphyria is an inherited condition. Some forms of porphyria result from inheriting an abnormal gene from one parent. Other forms are from inheriting an abnormal gene from each parent. The risk that individuals in an affected family will have the disease or transmit it to their children is quite different depending on the type. Attacks of porphyria can develop over hours or days and last for days or weeks. Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun. Major Function of Heme? The major function of heme is to carry oxygen in the blood. It is found in the blood, bone marrow, liver and other organs and tissues. How is Heme Produced? Multiple enzymes are needed for the body to produce heme. If any one of the enzymes is abnormal, the process cannot continue and the intermediate products, porphyrin or its precursors, may build up and be excreted in the urine and stool. Types of Porhyria Disorders? There are several types. The most common types are: Cutaneous porphyrias Cutaneous porphyrias affect the skin. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. Acute porphyrias Acute porphyrias affect the nervous system. Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. How is Porphyria Diagnosed? Porphyria is diagnosed through blood, urine, and stool tests. Diagnosis may be difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. Each form of porphyria is treated differently. Treatment may involve treating with heme, giving medicines to relieve the symptoms, or drawing blood. People who have severe attacks may need to be hospitalized.	Featured Book
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