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Xanthoma

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Tuberous xanthomas in an 18 y/o female with familial hypercholesterolemia. She had multiple periarticular nodular lesions over knees, elbows, and toes since 3 yrs. of age. An excisional biopsy of one of the lesions showed a homogenous, soft, yellow lesion with histologic features diagnostic of xanthoma. Her lipid profile showed elevated total cholesterol and LDL cholesterol with normal serum triglycerides, VLDL-cholesterol, and HDL-cholesterol. Her thyroid hormones were within normal limits (hypothyroidism can cause secondary hypercholesterolemia). The clinical presentation and lipid profile is consistent with familial hypercholesterolemia, type IIa. Familial cases result from a defect in the LDL-receptor gene or the apoB gene. Xanthomas are not true neoplasms but represent nodular aggregates of lipid-laden macrophages with associated inflammation and fibrosis (in long-standing cases) in response to altered serum lipids. Case courtesy of: Dr. Sanjay D. Deshmukh, Department of Pathology, Smt. Kashibai Navale Medical College, Pune, India.

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