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South African Journal of Child Health

versão On-line ISSN 1999-7671
versão impressa ISSN 1994-3032

Resumo

DEMPSTER, M J; JACOBSON, B F  e  WALABH, P. Alagille syndrome and hereditary von Willebrand disease: A rare co-occurrence. S. Afr. j. child health [online]. 2021, vol.15, n.3, pp.176-178. ISSN 1999-7671.  http://dx.doi.org/10.7196/SAJCH.2021.v15.i3.1820.

Alagille syndrome (ALGS) and von Willebrand disease (vWD) are both genetic conditions. An individual presenting with two independent genetic conditions is rare and there are no reported cases of these two conditions occurring in a single individual. ALGS often manifests with cholestasis and could lead to end-stage liver disease and associated complications, such as a variceal bleed. vWD is a bleeding disorder. This case report describes the rarity of these two genetic conditions and the management of a potential life-threatening bleed secondary to oesophageal varices and high bleeding risk.

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