Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia

This version was published on 1 September 2009

Ann Clin Biochem 2009;46:420-422
© 2009 Association for Clinical Biochemistry


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Case Reports

Abdulhadi I Bima1,
Amanda J Hooper1,2,
Frank M van Bockxmeer3 and
John R Burnett1,2,3

1 Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA;
2 School of Medicine and Pharmacology;
3 School of Pathology and Laboratory Medicine, University of Western Australia, Royal Perth Hospital, Perth, Australia

Corresponding author: Dr John R Burnett, Department of Core Clinical Pathology and Biochemistry, Path West Laboratory Medicine, WA, Royal Perth Hospital, GPO Box X2213, Perth WA 6847, Australia. Email: john.burnett{at}health.wa.gov.au

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 ~3-fold and hepatitis serologyand genotyping confirmed a diagnosis of hepatitis C virus (HCV)infection. In summary, we describe a case of HBL secondary tochronic HCV infection in a patient with FH, confirmed by mutationalanalysis.

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