FATTY LIVER IN A CASE WITH HETEROZYGOUS FAMILIAL HYPOBETALIPOPROTEINEMIA

We herein present a case of fatty liver in a patient with heterozygous familial hypobetalipoproteinemia. A 34-yr-old male presented with abn ormally elevated levels of transaminases and a fatty liver. He was asy mptomatic, and the physical examination showed nothing remarkable. The serum total cholesterol, triglyceride, LDL-cholesterol, and apolipopr otein B levels all ranged from low normal to one-half normal. His othe r laboratory data were all in the normal range. The patient's body mas s index measured was 25.7 kg/m(2), and he did not demonstrate obesity. He had no history of alcohol consumption. It was thus thought that th e fatty liver in this case might be associated with heterozygous hypob etalipoproteinemia. Heterozygous hypobetalipoproteinemia with a bright liver by ultrasound was also found in several of the patient's family members. Based on these rare findings, heterozygous hypobetalipoprote inemia should thus be considered as a possible cause in patients prese nting with an unexplained fatty liver.