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Porphyria, Variegate
Condition Overview: Variegate Porphyria (VP), a form of hepatic porphyria, is most common in the South African white population and is much less frequent elsewhere. It is an autosomal dominant disorder and may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity. This form of porphyria is also due to an enzyme deficiency.The diagnosis may be made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces. In patients with photosensitive skin changes alone, it is important to distinguish Varigate Porphyria or hereditary coproporphyria (HCP) from porphyria cutanea tarda (PCT), because treatment by phlebotomy or low-dose chloroquine is not successful in VP and HCP. Acute attacks are managed and may be prevented as in AIP. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same. . |
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