A 24-year-old gentleman, born of a non-consanguineous marriage, presented with multiple swelling over his body. Family history revealed premature cardiac deaths in paternal grandfather, father, and paternal uncle (30-40 years) and four sisters of the patient (16-20 years) all of whom had similar swellings. He had complete arcus cornealis (Figure 1), xanthelasma palpebrarum (Figure 2), multiple tuberous and tendinous xanthomas over the feet, sacrum, extensor aspects of elbows, and knees. Patient also had planar xanthomas over the ante-cubital regions. Investigations revealed markedly elevated serum low density lipoprotein-cholesterol (475 mg/dl), total cholesterol (525 mg/dl) and apolipoprotein B (306 mg/dl) but normal serum triglycerides (121 mg/dl). Patient was diagnosed as familial hypercholesterolemia and advised to follow low-fat diet and was initiated on rosuvastatin 20 mg and ezetimibe 10 mg per day.

Keywords: Familial hypercholesterolemia; Corneal arcus; Xanthomas; Hypercholesterolemia