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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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[Heterozygous familial hypercholesterolemia in Spain. Description of 819 non related cases]

Rodrigo Alonso1, Sergio Castillo, Fernando Civeira

  • 1Unidad de Lípidos. Servicio de Medicina Interna. Fundación Jiménez Díaz. Madrid. Spain.

Medicina Clinica
|April 27, 2002
PubMed

Insights

Heterozygous familial hypercholesterolemia (hFH) is a common inherited disorder. Cardiovascular disease risk in Spanish hFH patients is linked to LDL-c, age, gender, smoking, hypertension, and BMI.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Context:

  • Heterozygous familial hypercholesterolemia (hFH) is a prevalent genetic disorder.
  • Premature cardiovascular disease (CVD), particularly coronary artery disease, is a major complication in hFH patients.
  • Understanding hFH clinical manifestations and CVD characteristics in specific populations is crucial for risk stratification.

Purpose:

  • To analyze the clinical manifestations of hFH in the Spanish population.
  • To characterize the prevalence and risk factors of cardiovascular disease in Spanish hFH patients.

Summary:

  • A study analyzed 819 Spanish hFH patients (449 females, 370 males) from 69 lipid clinics.
  • Mean total cholesterol was elevated in both genders, with higher HDL-c in females. Xantomas were present in 22.5% of cases.
  • Premature CVD was observed in 21.7% of patients, more frequent in males. Multivariant analysis identified age, gender, tobacco use, LDL-c, blood pressure, and BMI as significant CVD predictors.

Impact:

  • The findings indicate that clinical manifestations and CVD in Spanish hFH patients align with international data.
  • Identifies key modifiable and non-modifiable risk factors for CVD in hFH, informing targeted prevention strategies.
  • Highlights the importance of comprehensive risk assessment including lipid profile, lifestyle factors, and anthropometrics in hFH management.
Abstract

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