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

Wang Jian; Miskie Brooke A; Liu Dora M; Tadiboyina Venu T; Hegele Robert A

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

2005

Wang Jian | Miskie Brooke A | Liu Dora M | Tadiboyina Venu T | Hegele Robert A

Abstract Background Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the <it>LIPA </it>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 <it>LIPA </it>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 <it>LIPA </it>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.

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