Abstract

GALVEZ-CARDENAS, Kenny Mauricio; SANTOS-SANCHEZ, Óscar Mauricio  and  MEDINA-MORALES, Diego Alejandro. Hemolytic anemia as the initial presentation of Wilson's disease. Regarding a rare disease with an infrequent presentation. Acta Med Colomb [online]. 2020, vol.45, n.1, pp.40-43.  Epub Sep 15, 2020. ISSN 0120-2448.  https://doi.org/10.36104/amc.2020.1459.

Wilson's disease is a rare genetic disorder that affects the excretion capacity of copper. Its distribution is worldwide, with an estimated prevalence in 30 cases per million habitants. Although the most frequent symptoms are those of hepatic and neuropsychiatric origin, hemolytic anemia with negative Coombs may be the only manifestation of the disease and its presentation usually precedes for months to clinically evident liver disease or neurological manifestations. The case of a young patient with negative Coombs hemolytic anemia and an alkaline phosphatase / total bilirubin ratio <4 and AST / ALT> 2.2 is presented, establishing Wilson's disease as a diagnosis. (Acta Med Colomb 2020; 45. DOI:https://doi.org/10.36104/amc.2020.1459).

Keywords : anemia; hemolytic; hepatolenticular degeneration; Coombs test.

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