Hepatosteatosis with hypobetalipoproteinemia

Nonalcoholic fatty liver disease is increasingly recognized as a condition that may progress to chronic liver disease. Most cases of fatty liver are asymptomatic and often are detected during routine medical or laboratory examinations. There also are some rare genetic diseases such as abetalipoproteinemia and familial hypobetalipoproteinemia that may cause fatty liver disease. Both are inherited disorders of lipoprotein metabolism. Although abetalipoproteinemia and homozygous familial hypobetalipoproteinemia patients present with severe manifestations, heterozygotes are usually asymptomatic. In the last several years, case reports or studies indicating a relationship between hepatosteatosis and familial heterozygote hypobetalipoproteinemia (FHBL) have been reported. Here, we report three cases of FHBL with characteristic lipid profile, mildly elevated liver enzymes and hepatosteatosis confirmed by ultrasonography.