Fatty acid profile in familial hypercholesterolaemia

Lipids and fatty acid levels were studied in a family of known familial hypercholesterolaemia. The family members were age and sex matched with volunteers from the same village. Significantly elevated lipid levels (p < 0.001) were observed in the family members. Raised free cholesterol was predominant in members of the family who had developed Xanthoma. Furthermore, it was found that phospholipids were grossly raised in these members of the family who had developed Xanthoma. The saturated fatty acids were significantly raised in the family group (p < 0.001) but the polyunsaturated fatty acids were significantly lower (p < 0.001). This study appears to suggest that the predominant lipids accumulating in the Xanthoma are free cholesterol.