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Recent modalities in the management of familialhypercholesterolemia in the pediatric age group

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Pediatrics

Advisors

Abdel-Aziz, Faten M. , Amer, Rasha , Fattouh, Aya M.

Authors

Refaei, Hala Salah-El-Din Sayed

Accessioned

2017-04-26 12:31:29

Available

2017-04-26 12:31:29

type

M.Sc. Thesis

Abstract

Familial hypercholesterolemia is an autosomal dominant genetic disease caused by mutations in the low-density lipoprotein receptor gene. It is characterized by severe elevations in the total serum cholesterol and LDL-cholesterol. It may be homozygous or heterozygous (Goldstein, et al, 1995). In the homozygous type, low-density lipoprotein cholesterol (LDL-c) levels ranged from 500-1000 mg/dl and coronary artery diseases is precocious, usually manifest between the 1st and 2nd decades of life (Kawaguchi, et al, 1999). In the heterozygous type LDL-c levels are around 500mg/dl. The coronary atherosclerotic disease appears in the 3rd and 4th decades of life (De jongh, et al, 2002). Clinically, multiple cutaneous xanthomas distributed all over the body especially on the hands, elbows, knees and around extensor tendons e.g. Achilles tendon. The symptoms appear during adolescents in heterozygous individuals and between 4 and 6 years of age in homozygous individuals ( De jongh, et al, 2002). The conventional therapy include the lipid-lowering drugs to lower the serum cholesterol and diet control with recommended healthy lifestyle (Obarzanek, et al, 2001). The recent lines of management include plasma exchange, liver transplantation and gene therapy (Takahashi, et al, 2001).

Issued

1 Jan 2007

DOI

http://dx.doi.org/10.21473/iknito-space/32802

Details

Type

Thesis

Created At

05 Feb 2023