Familial hypo-beta-lipoproteinemia: a family detected by cord blood tests.

A family with low-density lipoprotein (LDL) deficiency was detected during the course of screening cord blood samples. The initial diagnosis in the proband was based on the cord blood LDL cholesterol and lipoprotein electrophoretic pattern, and was confirmed by repeated studies at the age of 8 months. The infant had none of the clinical abnormalities previously ascribed to the condition. Further investigation did not disclose any other significant biochemical or histological abnormalities. Hypo-beta-lipoproteinemia was found to exist in the proband's mother and only sibling. Hence the diagnosis of familial hypo-beta-lipoproteinemia is possible by unselected cord blood LDL cholesterol measurement and lipoprotein electrophoresis in conjunction with kindred studies.