Literature DB >> 26405394

An Interesting Case of Familial Homozygous Hypercholesterolemia-A Brief Review.

Shubha Jayaram1, S Meera1, Sumangala Kadi1, N Sreenivasa2.   

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.

Entities:  

Keywords:  Homozygous; Hypercholesterolemia; Xanthomas

Year:  2011        PMID: 26405394      PMCID: PMC4577508          DOI: 10.1007/s12291-011-0165-8

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN: 0970-1915


  9 in total

1.  Intertriginous xanthomas--a marker of homozygous familial hypercholesterolemia.

Authors:  G Sethuraman; D M Thappa; K Karthikeyan
Journal:  Indian Pediatr       Date:  2000-03       Impact factor: 1.411

2.  Familial hypercholesterolemia presenting as intracranial xanthoma.

Authors:  Anita Basavaraj; S Jadhav; J Dhadwad
Journal:  J Assoc Physicians India       Date:  2006-04

3.  Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.

Authors:  Emily S van Aalst-Cohen; Angelique C M Jansen; S Matthijs Boekholdt; Michael W T Tanck; Marcel R Fontecha; Suzanne Cheng; Jia Li; Joep C Defesche; Jan Albert Kuivenhoven; John J P Kastelein
Journal:  Eur J Hum Genet       Date:  2005-10       Impact factor: 4.246

4.  Familial hypercholesterolaemia.

Authors:  A David Marais
Journal:  Clin Biochem Rev       Date:  2004-02

Review 5.  Fat transport in lipoproteins--an integrated approach to mechanisms and disorders.

Authors:  D S Fredrickson; R I Levy; R S Lees
Journal:  N Engl J Med       Date:  1967-01-05       Impact factor: 91.245

Review 6.  A receptor-mediated pathway for cholesterol homeostasis.

Authors:  M S Brown; J L Goldstein
Journal:  Science       Date:  1986-04-04       Impact factor: 47.728

7.  The cholesterol turnover, synthesis, and absorption in two sisters with familial hypercholesterolemia (type IIa).

Authors:  G A Carter; W E Connor; A K Bhattacharyya; D S Lin
Journal:  J Lipid Res       Date:  1979-01       Impact factor: 5.922

8.  [Müller-Harbitz disease--familial hypercholesterolemia].

Authors:  Leiv Ose
Journal:  Tidsskr Nor Laegeforen       Date:  2002-04-10

9.  Familial hypercholesterolemia: the lipids or the genes?

Authors:  Akl C Fahed; Georges M Nemer
Journal:  Nutr Metab (Lond)       Date:  2011-04-22       Impact factor: 4.169

  9 in total

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