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An Interesting Case of Familial Homozygous Hypercholesterolemia—A Brief Review

Indian Journal of Clinical Biochemistry volume 27, pages 309–313 (2012)Cite this article

Abstract

Familial hypercholesterolemia (FH) is a form of primary hyperlipoproteinemia, is an autosomal co-dominant disorder, characterized by an increase in serum LDL cholesterol concentrations, presence of xanthomas and premature atherosclerosis. Homozygous familial hypercholesterolemia is of rare occurence in which approximately 1 in 1 million persons in the general population are affected. Here we report an interesting case of familial homozygous hypercholesterolemia for its classical presentation and rarity.

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Affiliations

  1. Department of Biochemistry, Mysore Medical College & Research Institute, Mysore, 570001, Karnataka, India

    Shubha Jayaram, S. Meera & Sumangala Kadi

  2. Department of Pathology, Mysore Medical College & Research Institute, Mysore, 570001, Karnataka, India

    N. Sreenivasa

Authors
  1. Shubha Jayaram
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  2. S. Meera
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  3. Sumangala Kadi
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  4. N. Sreenivasa
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Correspondence to Shubha Jayaram.

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Jayaram, S., Meera, S., Kadi, S. et al. An Interesting Case of Familial Homozygous Hypercholesterolemia—A Brief Review. Ind J Clin Biochem 27, 309–313 (2012). https://doi.org/10.1007/s12291-011-0165-8

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  • DOI: https://doi.org/10.1007/s12291-011-0165-8

Keywords

  • Hypercholesterolemia
  • Homozygous
  • Xanthomas