1. Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.
- Author
-
Sjouke B, van der Stappen JW, Groener JE, Pepping A, Wevers RA, Gouw A, Dikkeschei LD, Mijnhout S, Hovingh GK, and Alleman MA
- Subjects
- Adult, Cholesterol Ester Storage Disease metabolism, DNA Mutational Analysis, Female, Hepatomegaly metabolism, Humans, Hypercholesterolemia metabolism, Male, Phenotype, Splenomegaly metabolism, Sterol Esterase metabolism, Young Adult, Cholesterol Ester Storage Disease genetics, DNA genetics, Hepatomegaly genetics, Hypercholesterolemia genetics, Mutation, Splenomegaly genetics, Sterol Esterase genetics
- Abstract
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 phenotypic variability of the disease is of clinical relevance in light of enzyme replacement therapy (sebelipase alpha) for patients with mutations in LIPA, which is currently under development.
- Published
- 2015