title: Acute hemolytic anemia as an initial clinical manifestation of Wilson's disease.
abstract: Wilson's disease is an inherited disorder of copper transport in the organism, transmitted in autosomal recessive fashion. It is caused by dysfunction in homologous copper-transporting adenosine triphosphatases. The main clinical symptoms are usually due to hepatic (42%) or/and neurologic (34%) involvement, which is the reason for the name hepatolenticular degeneration. Described in this report are four cases--the first three demonstrate an unusual form of manifestation of Wilson's disease in clinical practice--glucose-6-phosphate dehydrogenase deficiency hemolytic anemia. The fourth case concerns acute intravascular hemolysis that was provoked by the disease and presented without erythrocyte enzyme disturbances. Hemolytic anemia is a recognized but rare (10-15%) complication of the disease. Most often Coombs' negative acute intravascular hemolysis occurs as a consequence of oxidative damage to the erythrocytes by the higher copper concentration. A literature review with discussion of the possible mechanisms for the development of this phenomenon is done.
authors.affiliation: Clinic of Hematology, Higher Medical Institute, 15A Vassil Aprilov St., 4000 Plovdiv, Bulgaria.
authors.forename: J G
authors.initials: JG
authors.lastname: Grudeva-Popova
authors.forename: M I
authors.initials: MI
authors.lastname: Spasova
authors.forename: K G
authors.initials: KG
authors.lastname: Chepileva
authors.forename: Z H
authors.initials: ZH
authors.lastname: Zaprianov
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000209:etiology*; D003300:Copper / Q000097:blood; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000175:diagnosis / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D006801:Humans; D008297:Male
chemical_list: D003300:Copper