Familial Hypercholesterolemia: Case Report

The following report is of a patient who came for a routine OPD visit with complaint of breathlessness on exertion. On thorough clinical examination the patient had distinct features such as - Presence of xanthelasma, corneal arcus, multiple tuberous xanthomas present bilaterally over shoulder joints, elbow joints, buttocks and knee joints. Serum cholesterol levels were highly raised. Coronary angiography revealed calcified coronaries with triple vessel involvement. The patient had LV dysfunction. Genetic testing and skin biopsy was also done. The patient was discharged on optimal medical management.