{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T14:40:44Z","timestamp":1791038444304,"version":"4.1.0"},"reference-count":18,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2009,6,1]],"date-time":"2009-06-01T00:00:00Z","timestamp":1243814400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Clin Biochem"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:p>Familial hypercholesterolaemia (FH) is a common genetic disorder characterized by high plasma low-density lipoprotein (LDL)-cholesterol and premature coronary artery disease. Many factors, such as illness, high-dose statin therapy or a strict vegan diet can cause hypobetalipoproteinaemia (HBL). The more common secondary causes of HBL in the hospital setting include cachexia, intestinal malabsorption, malnutrition, severe liver disease and hyperthyroidism. We report a case of HBL in a 43-year-old man with previously demonstrated marked hypercholesterolaemia who attended a lipid disorders clinic for FH cascade screening. Surprisingly, a lipid profile taken at that time showed low plasma LDL-cholesterol and apolipoprotein B concentrations of 1.6 mmol\/L and 0.61 g\/L, respectively. He was not on lipid-lowering therapy. DNA sequencing showed that he was heterozygous for the LDLR gene mutation (C677R) present in other affected family members. Of interest, his serum transaminases were increased by \u223c3-fold and hepatitis serology and genotyping confirmed a diagnosis of hepatitis C virus (HCV) infection. In summary, we describe a case of HBL secondary to chronic HCV infection in a patient with FH, confirmed by mutational analysis.<\/jats:p>","DOI":"10.1258\/acb.2009.009004","type":"journal-article","created":{"date-parts":[[2009,6,1]],"date-time":"2009-06-01T20:45:46Z","timestamp":1243889146000},"page":"420-422","source":"Crossref","is-referenced-by-count":6,"title":["Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia"],"prefix":"10.1177","volume":"46","author":[{"given":"Abdulhadi I","family":"Bima","sequence":"first","affiliation":[{"name":"Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda J","family":"Hooper","sequence":"additional","affiliation":[{"name":"Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA"},{"name":"School of Medicine and Pharmacology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank M","family":"van Bockxmeer","sequence":"additional","affiliation":[{"name":"School of Pathology and Laboratory Medicine, University of Western Australia, Royal Perth Hospital, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R","family":"Burnett","sequence":"additional","affiliation":[{"name":"Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA"},{"name":"School of Medicine and Pharmacology"},{"name":"School of Pathology and Laboratory Medicine, University of Western Australia, Royal Perth Hospital, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2009,6,1]]},"reference":[{"key":"bibr-ACB-09-004C1","doi-asserted-by":"publisher","DOI":"10.1258\/000456306778904641"},{"key":"bibr-ACB-09-004C2","first-page":"11","volume":"29","author":"Burnett JR","year":"2008","journal-title":"Clin Biochem Rev"},{"key":"bibr-ACB-09-004C3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-5994.2004.00779.x"},{"key":"bibr-ACB-09-004C4","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.2005.tb06810.x"},{"key":"bibr-ACB-09-004C5","doi-asserted-by":"publisher","DOI":"10.1097\/01.mol.0000174152.76554.d6"},{"key":"bibr-ACB-09-004C6","doi-asserted-by":"publisher","DOI":"10.1258\/acb.2008.008094"},{"key":"bibr-ACB-09-004C7","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2004.038026"},{"key":"bibr-ACB-09-004C8","doi-asserted-by":"publisher","DOI":"10.1080\/10408360500295113"},{"key":"bibr-ACB-09-004C9","doi-asserted-by":"publisher","DOI":"10.1038\/ncpgasthep0961"},{"key":"bibr-ACB-09-004C10","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-864785"},{"key":"bibr-ACB-09-004C11","doi-asserted-by":"publisher","DOI":"10.1007\/s004300000032"},{"key":"bibr-ACB-09-004C12","doi-asserted-by":"publisher","DOI":"10.1096\/fj.01-0396com"},{"key":"bibr-ACB-09-004C13","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2006.02.035"},{"key":"bibr-ACB-09-004C14","doi-asserted-by":"publisher","DOI":"10.1080\/10408360208951113"},{"key":"bibr-ACB-09-004C15","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1111\/j.1572-0241.2003.07402.x","volume":"98","author":"Petit JM","year":"2003","journal-title":"Am J Gastroenterol"},{"key":"bibr-ACB-09-004C16","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010602"},{"key":"bibr-ACB-09-004C17","doi-asserted-by":"publisher","DOI":"10.1053\/jhep.2003.50267"},{"key":"bibr-ACB-09-004C18","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0700760104"}],"container-title":["Annals of Clinical Biochemistry: International Journal of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/acb.2009.009004","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1258\/acb.2009.009004","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/acb.2009.009004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:55:35Z","timestamp":1777377335000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1258\/acb.2009.009004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6,1]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["10.1258\/acb.2009.009004"],"URL":"https:\/\/doi.org\/10.1258\/acb.2009.009004","relation":{},"ISSN":["0004-5632","1758-1001"],"issn-type":[{"value":"0004-5632","type":"print"},{"value":"1758-1001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6,1]]}}}