Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease.
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 approximately 80 months, with approximately 15% decline in mean LDL-C. The addition of ezetimibe 10 mg to lovastatin 40 mg resulted in an additional approximately 16% decline in mean LDL-C.


CONCLUSIONS
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.
Tadiboyina
Venu T
VT
Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, N6A 5C1, Canada. vtadoboy@uwo.ca
Liu
Dora M
DM
Miskie
Brooke A
BA
Wang
Jian
J
Hegele
Robert A
RA
D000293:Adolescent; D000595:Amino Acid Sequence; D001384:Azetidines / Q000627:therapeutic use*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D015217:Cholesterol Ester Storage Disease / Q000188:drug therapy*; D004359:Drug Therapy, Combination; D050171:Dyslipidemias / Q000188:drug therapy* / Q000235:genetics; D000069438:Ezetimibe; D006801:Humans; D008074:Lipoproteins / Q000097:blood; D008148:Lovastatin / Q000627:therapeutic use*; D008297:Male; D008969:Molecular Sequence Data; D002787:Sterol Esterase / Q000235:genetics
D001384:Azetidines; D008074:Lipoproteins; D008148:Lovastatin; C503451:LIPA protein, human; D002787:Sterol Esterase; D000069438:Ezetimibe