Familial Hypercholesterolemia: Report of a Family.

ABSTRACT

We report a family, two sibling and mother, who developed corneal arcus and multiple skin lesions in form of xanthomas. The lesions appeared all over the body involving fingers, hands, elbows, knees, buttocks and feet. Laboratory studies showed total serum cholesterol level of >700 mg/dL; triglyceride level <150 mg/dL in all the cases. Father died few years back at a young age due to cardiac illness. Findings were consistent with homozygous familial hypercholesterolemia. In our country, incidence of hypercholesterolemia is not known. Only few case reports are there in the available literature.