Familial hypercholesterolaemia-like syndrome with apolipoprotein E-7 associated with marked Achilles tendon xanthomas and coronary artery disease: a report of two cases.

We observed two patients with hypercholesterolaemia and tendon xanthomas associated with apolipoprotein (apoE-7) E-7, a rare variant of the apoE isoforms. Both suffered from coronary artery disease and had undergone a coronary bypass operation. Their cholesterol levels were 268 and 310 mg dl-1, respectively. Both patients had marked xanthomas in the Achilles tendons. Both also suffered from diabetes. Although their clinical and laboratory findings were compatible with typical familial hypercholesterolaemia (FH), the analysis of low-density lipoprotein (LDL) receptors in cultured fibroblasts showed no abnormality of binding, internalization or degradation of 125I-LDL. Diabetic control with a low-calorie, low-fat diet led to the rapid reduction of serum cholesterol. Other family members of the patients with apoE-7, who were normoglycaemic, showed normal cholesterol levels and no xanthomas. These findings suggest that coexistent diabetes mellitus may induce overt hyperlipidaemia and accumulation of lipids in tissues in subjects with apoE7.