Research

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease

Venu T Tadiboyina^1,2 , Dora M Liu¹ , Brooke A Miskie² , Jian Wang² and Robert A Hegele^1,2

¹Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, N6A 5C1, Canada

²Vascular Biology Group and Blackburn Cardiovascular Genetics, Laboratory, Robarts Research Institute, London, ON, N6A 5K8, Canada

author email corresponding author email

Lipids in Health and Disease 2005, 4:26doi:10.1186/1476-511X-4-26

Published:	28 October 2005

Abstract

Background

Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding lysosomal acid lipase. CESD patients present in childhood with hepatomegaly and dyslipidemia characterized by elevated total and low-density lipoprotein cholesterol (LDL-C), with elevated triglycerides and depressed high-density lipoprotein cholesterol (HDL-C). Usual treatment includes a low fat diet and a statin drug.

Results

In an 18-year old with CESD, we documented compound heterozygosity for two LIPA mutations: a novel frameshift nonsense mutation and a deletion of exon 8. The patient had been treated with escalating doses of lovastatin for ~80 months, with ~15% decline in mean LDL-C. The addition of ezetimibe 10 mg to lovastatin 40 mg resulted in an additional ~16% decline in mean LDL-C.

Conclusion

These preliminary anecdotal findings in a CESD patient with novel LIPA mutations support the longer term safety of statins in an adolescent patient and provide new data about the potential efficacy and tolerability of ezetimibe in this patient group.