Homozygous familial hypercholesterolemia: A rare case report

Shashikant Malkud, Sirisha Varala, Geeta Kiran Arakkal, Purnachandra Badabagni

Indian Journal of Paediatric Dermatology 2018 19(3):245-247

A 9-year-old male child presented with asymptomatic skin-colored-to-yellowish nodules over both the buttocks, feet, and over the right Achilles' tendon for 4 years. There was a history of similar complaints in elder sibling and also a history of premature sudden cardiac death in father. Biopsy from the lesions was suggestive of xanthoma. Fasting lipid profile was consistent with the pattern of Type IIa hyperlipoproteinemia. The child was further worked up for systemic involvement which was normal. He was started on rosuvastatin and fenofibrate and is under regular follow-up. The timely diagnosis of familial hypercholesterolemia, especially the homozygous variant, is important for early intervention and prevention of complications.