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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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CASCADE screening and registry of familial hypercholesterolemia in Iran: Rationale and design

Golnaz Vaseghi1, Sina Arabi2, Shaghayegh Haghjooy-Javanmard3

  • 1Assistant Professor, Applied Physiology Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran.

ARYA Atherosclerosis
|August 24, 2019
PubMed

Insights

Familial hypercholesterolemia (FH), a genetic disorder causing premature coronary artery disease (CAD), requires early detection. This study introduces a screening and registry program in Iran to identify and manage FH patients, optimizing their low-density lipoprotein cholesterol (LDL-C) levels.

Area of Science:

  • Cardiovascular Genetics
  • Public Health Screening
  • Genetic Epidemiology

Background:

  • Familial hypercholesterolemia (FH) is a prevalent genetic disorder linked to premature coronary artery disease (CAD).
  • Early diagnosis and treatment of FH are crucial to mitigate the risk of premature CAD events.
  • Current diagnostic methods include clinical features, family history, and LDL-C levels, with DNA-based detection offering high accuracy.

Purpose of the Study:

  • To establish a screening and registry program for Familial hypercholesterolemia (FH) in Iran.
  • To identify individuals with FH and facilitate early intervention and management.
  • To optimize low-density lipoprotein cholesterol (LDL-C) levels in affected families.

Main Methods:

  • Screening the general population through laboratories based on elevated LDL-C levels (≥190 mg/dl or ≥150 mg/dl if treated).
  • Implementing a hospital-based approach to screen hospitalized patients with premature CAD events.
  • Utilizing the CASCADE method for screening and patient registration.

Main Results:

  • The study initiated screening and registration of FH patients in Iran.
  • Families of identified FH patients were targeted for screening to ensure comprehensive care.
  • The aim was to provide standard care and therapy to optimize LDL-C levels.

Conclusions:

  • This article details the rationale and design of the FH screening and registry in Iran.
  • The program aims to address the lack of prior FH screening in the country.
  • Early detection and management are emphasized to reduce the burden of premature CAD.
Abstract

Keywords:
Familial HypercholesterolemiaIranRegistriesScreening

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