{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:13:21Z","timestamp":1771002801529,"version":"3.50.1"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Lipids Health Dis"],"published-print":{"date-parts":[[2005,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the <jats:italic>LIPA<\/jats:italic> 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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>In an 18-year old with CESD, we documented compound heterozygosity for two <jats:italic>LIPA<\/jats:italic> 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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>These preliminary anecdotal findings in a CESD patient with novel <jats:italic>LIPA<\/jats:italic> 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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1476-511x-4-26","type":"journal-article","created":{"date-parts":[[2005,10,28]],"date-time":"2005-10-28T18:14:10Z","timestamp":1130523250000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease"],"prefix":"10.1186","volume":"4","author":[{"given":"Venu T","family":"Tadiboyina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dora M","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brooke A","family":"Miskie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert A","family":"Hegele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,10,28]]},"reference":[{"key":"70_CR1","first-page":"1623","volume-title":"The Metabolic Basis of Inherited Disease","author":"G Schmitz","year":"1989","unstructured":"Schmitz G, Assmann G: Acid lipase deficiency. 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