Article
Clinical heterogeneity in monogenic chylomicronaemia.
BMJ case reports - 24 Nov 2022
Heidemann Britt E, Bemelmans Remy H H, Marais A David, Visseren Frank L J, Koopal Charlotte
Abstract excerpt
Chylomicronaemia accompanies hypertriglyceridaemia, usually due to a polygenic predisposition in combination with secondary risk factors. Monogenic chylomicronaemia represents a small subgroup of patients with hypertriglyceridaemia. This article describes three patients and illustrates the heterogeneity in the presentation of monogenic chylomicronaemia. The first case is a man with mild hypertriglyceridaemia who...
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