Received on June 1, 2004
Accepted on September 27, 2004

Case Report

Liver Dysfunction and Steatosis in Familial Hypobetalipoproteinemia

¹ School of Surgery and Pathology, University of Western Australia, Crawley, Australia
² School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia
³ Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, Perth, Australia
⁴ St. John of God Pathology, Perth, Australia
⁵ School of Surgery and Pathology, University of Western Australia, Crawley, Australia and Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, Perth, Australia
⁶ School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia and Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, Perth, Australia

A 32-year-old man presented with increased serum alanine aminotransferase activity and iron concentration and transferrin saturation suggestive of hepatic dysfunction and iron overload. In addition, he had unusually low plasma concentrations of LDL cholesterol and apolipoprotein (apo) B. Hepatic ultrasonography was consistent with fatty liver. On liver biopsy, marked steatosis and moderate to marked iron deposition were observed. The patient was found to carry the HFE C282Y and H63D mutations, which are associated with hereditary hemochromatosis, and the ₁-antitrypsin PiZ variant. An immunoblot of plasma for apoB showed the presence of a truncated apoB species, indicative of familial hypobetalipoproteinemia. DNA sequence analysis revealed that the patient was heterozygous for the apoB-80.5 (c.11040T>G) mutation. This unique case shows an unusual combination of underlying disorders that could all be contributing to liver dysfunction and fatty liver.