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Porphyria - Overview

Alternative Names

Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria

Definition of Porphyria:

Porphyrias are a rare group of disorders passed down through families in which an important part of hemoglobin, called heme, does not develop properly. Heme is also found in myoglobin, a protein found in certain muscles.

Causes, incidence, and risk factors:

Normally, the body breaks down chemicals, called porphyrins, into heme. The porphyrins leave the body through urine or stools. But persons with porphyria have a genetic defect that interrupts this process. As a result, porphyrins build up in the body. This can lead to rashes, light sensitivity, abdominal pain, and other symptoms.

There are many different forms of porphyria. The most common type is porphyria cutanea tarda.

Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.

  • Reviewed last on: 4/5/2007
  • Mark Levin, MD, Hematologist and Oncologist, Newark, NJ. Review provided by VeriMed Healthcare Network.

References

Hoffman R, Benz EJ, Shattil SS, et al. Hematology: Basic Principles and Practice. 4th ed. Orlando, Fl: Churchill Livingstone; 2005.

Dombeck TA. The porphyrias. Emerg Med Clin North Am. Aug 2005; 23(3): 885-99, x.

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