Issue: 2015 > March > special report

Hypercholesterolaemia and hepatosplenomegaly: Two manifestations of cholesteryl ester storage disease

B. Sjouke, J.W.J. van der Stappen, J.E.M. Groener, A. Pepping, R.A. Wevers, A. Gouw, L.D. Dikkeschei, S. Mijnhout, G.K. Hovingh, M.A. Alleman
AbstractFull textPDF


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.