Article
Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.
The Netherlands journal of medicine - 1 Mar 2015
Sjouke B, van der Stappen J W J, Groener J E M, Pepping A, Wevers R A, Gouw A, Dikkeschei L D, Mijnhout S, Hovingh G K, Alleman M A
Abstract excerpt
Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA. Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and one case with hepatosplenomegaly from childhood onwards. These two cases exemplify the diversity of clinical phenotypes of patients with CESD. Knowledge on the...
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