Erythropoietic Protoporphyria: A condition where there is excessive formation of porphyrin or its precursor. More detailed information about the symptoms, causes, and treatments of Erythropoietic Protoporphyria is available below.
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Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder called Von Willebrand's disease is quite common in women, but often fails to be correctly diagnosed. Women with the condition tend to have heavy periods, since they actually have a bleeding disorder. Severe afflictions may result in the women receiving a hysterectomy unnecessarily, when the underlying cause has not been identified. See the introduction to Von Willebrand's disease and bleeding disorder....read more »
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An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. - (Source - Diseases Database)
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