title: Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia.
abstract: 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 approximately 3-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.
authors.affiliation: Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA 6847, Australia.
authors.forename: Abdulhadi I
authors.initials: AI
authors.lastname: Bima
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.forename: Frank M
authors.initials: FM
authors.lastname: van Bockxmeer
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D019698:Hepatitis C, Chronic / Q000150:complications* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D006938:Hyperlipoproteinemia Type II / Q000209:etiology* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D011973:Receptors, LDL