Case Reports

Alagille syndrome and hereditary von Willebrand disease: A rare co-occurrence
Abstract
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.
Authors' affiliations
M J Dempster, Vaccines and Infectious Diseases Analytical Research Unit, Johannesburg, South Africa
B F Jacobson, Department of Clinical Haematology, Charlotte Maxeke Johannesburg Academic Hospital and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
P Walabh, Department of Paediatrics and Child Health, Charlotte Maxeke Johannesburg Academic Hospital and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
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Date published: 2021-10-14
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