Porphyria: A Difficult Disease to Diagnose
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Porphyria describes a group of disorders in which there is an inborn error of heme metabolism. The error is deficient or defective enzymes needed in the production of heme. There are at least seven different know types of porphyria based upon which enzyme is affected. Essentially, the person who is suffering with porphyria has a build up of enzymatic particles, called porphyrins, due to the defective pathway (Thadani, Deacon & Peters, 2000). All of the porphyrias are rare, some more than others. They are mainly an inherited, but may be acquired (Rich, 1999). Because of their rarity, clinicians often forget to include them in their differential diagnosis (Crimslick, 1997). The clinical manifestations of porphyria are easily misinterpreted for other illnesses. There is no cure for porphyria, but early diagnosis and treatment can reduce the number of hospital admissions and potential for death and disfigurement. Most treatment usually consists of avoidance of triggers factors such as alcohol, specific drugs, and sunlight. In acute porphyrias the use of phlebotomy or administration of heme can be used. (Thadani et aI., 2000).