Liver Dysfunction and Steatosis in Familial Hypobetalipoproteinemia

A.J. Whitfield; Hugh Barrett; K. Robertson; M.F. Havlat; Frank Van Bockxmeer; John Burnett

doi:10.1373/clinchem.2004.037978

Liver Dysfunction and Steatosis in Familial Hypobetalipoproteinemia

A.J. Whitfield, Hugh Barrett, K. Robertson, M.F. Havlat, Frank Van Bockxmeer, John Burnett

Research output: Contribution to journal › Review article

40 Citations (Scopus)

Abstract

A 32-year-old man presented with increases in serum alanine aminotransferase activity, 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, I 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 alpha(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. (C) 2005 American Association for Clinical Chemistry.

Original language	English
Pages (from-to)	266-269
Journal	Clinical Chemistry
Volume	51
Issue number	1
DOIs	https://doi.org/10.1373/clinchem.2004.037978
Publication status	Published - 2005

Fingerprint

Cite this

Whitfield, A. J., Barrett, H., Robertson, K., Havlat, M. F., Van Bockxmeer, F., & Burnett, J. (2005). Liver Dysfunction and Steatosis in Familial Hypobetalipoproteinemia. Clinical Chemistry, 51(1), 266-269. https://doi.org/10.1373/clinchem.2004.037978

@article{05a60fca08c44b0fbcdd51da8bb27bab,

title = "Liver Dysfunction and Steatosis in Familial Hypobetalipoproteinemia",

abstract = "A 32-year-old man presented with increases in serum alanine aminotransferase activity, 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, I 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 alpha(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. (C) 2005 American Association for Clinical Chemistry.",

author = "A.J. Whitfield and Hugh Barrett and K. Robertson and M.F. Havlat and {Van Bockxmeer}, Frank and John Burnett",

year = "2005",

doi = "10.1373/clinchem.2004.037978",

language = "English",

volume = "51",

pages = "266--269",

journal = "Clinical Chemistry",

issn = "0009-9147",

publisher = "AMER ASSOC CLINICAL CHEMISTRY",

number = "1",

}

TY - JOUR

T1 - Liver Dysfunction and Steatosis in Familial Hypobetalipoproteinemia

AU - Whitfield, A.J.

AU - Barrett, Hugh

AU - Robertson, K.

AU - Havlat, M.F.

AU - Van Bockxmeer, Frank

AU - Burnett, John

PY - 2005

Y1 - 2005

N2 - A 32-year-old man presented with increases in serum alanine aminotransferase activity, 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, I 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 alpha(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. (C) 2005 American Association for Clinical Chemistry.

AB - A 32-year-old man presented with increases in serum alanine aminotransferase activity, 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, I 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 alpha(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. (C) 2005 American Association for Clinical Chemistry.

U2 - 10.1373/clinchem.2004.037978

DO - 10.1373/clinchem.2004.037978

M3 - Review article

C2 - 15514099

VL - 51

SP - 266

EP - 269

JO - Clinical Chemistry

JF - Clinical Chemistry

SN - 0009-9147

IS - 1

ER -

Access to Document

10.1373/clinchem.2004.037978