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De Novo Familial Hypercholesterolemia

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

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Journal of Cardiovascular Medicine and Surgery 7(1):p 27-28, January – March 2021. | DOI: http://dx.doi.org/10.21088/jcms.2454.7123.7121.4

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Debasish Das, Debasis Acharya, Dibya Sundar Mahanta et al./De Novo Familial Hypercholesterolemia/J Cardiovasc Med
Surg.2021;7(1): 27-28.
 

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Received : N/A         Accepted : N/A          Published : N/A

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.

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Cite this article

 

Debasish Das, Debasis Acharya, Dibya Sundar Mahanta et al./De Novo Familial Hypercholesterolemia/J Cardiovasc Med
Surg.2021;7(1): 27-28.
 

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

Keywords

Familial; homozygous; hypercholesterolemia.

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