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Journal of Cardiovascular Medicine and Surgery

Volume  7, Issue 1, January – March 2021, Pages 27-28
 

Review Article

De Novo Familial Hypercholesterolemia

Debasish Das, Debasis Acharya, Dibya Sundar Mahanta, Jogendra Singh,

Associate Professor, 2 Assistant Professor, 3,4 Senior Resident, Department of Cardiology, All India institute of medical sciences. Sijua, Patrapada, Bhubaneswar 751019, India.

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DOI: http://dx.doi.org/10.21088/jcms.2454.7123.7121.4

Abstract

19 year male presented to us with plethora of tendinous and tuberous xanthomas over hands, elbows, knees, ankles, dorsum and sacral area since last eight years. Fasting lipid profile revealed very high total cholesterol(TC) and serum LDL consistent with Type IIa hyperlipoproteinemia. Screening of the parents and family members revealed no derangement of lipid profile in any of them. Although conventionally described as autosomal codominant, we report a rare case of de novo familial hypercholesterolemia which results in premature coronary death and timely intervention only prevents premature atherosclerosis.


Keywords : Familial; homozygous; hypercholesterolemia.
Corresponding Author : Debasish Das