title: Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.
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.
authors: Department of Vascular Medicine, Academic Medical Center, Amsterdam, the Netherlands.
authors: B
authors: B
authors: Sjouke
authors: J W J
authors: JW
authors: van der Stappen
authors: J E M
authors: JE
authors: Groener
authors: A
authors: A
authors: Pepping
authors: R A
authors: RA
authors: Wevers
authors: A
authors: A
authors: Gouw
authors: L D
authors: LD
authors: Dikkeschei
authors: S
authors: S
authors: Mijnhout
authors: G K
authors: GK
authors: Hovingh
authors: M A
authors: MA
authors: Alleman
mesh_terms: D000328:Adult; D015217:Cholesterol Ester Storage Disease / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006529:Hepatomegaly / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D010641:Phenotype; D013163:Splenomegaly / Q000235:genetics* / Q000378:metabolism; D002787:Sterol Esterase / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D004247:DNA; C503451:LIPA protein, human; D002787:Sterol Esterase