[Asymptomatic abetalipoproteinemia associated with partial apoprotein B deficiency: a familial case report]

Abstract

The authors report a case of familial asymptomatic abetalipoproteinemia. The propositus has total abetalipoproteinemia associated with a partial apoprotein B defect. His two daughters have a subtotal betalipoprotein deficiency. This familial case, with autosomal dominant transmission, seems different from other reports. It supports the hypothesis that the primary involvement is a deficiency in apoprotein B synthesis, which appears more closely correlated with clinical symptoms.