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Autosomal recessive hypercholesterolemia in Spain.

Rosa María Sánchez-Hernández1, Pablo Prieto-Matos2, Fernando Civeira3

  • 1Sección de Endocrinología y Nutrición, Complejo Hospitalario Universitario Insular Materno Infantil de Gran Canaria, Instituto Universitario de Investigaciones Biomédicas y Sanitarias (IUIBS) de la Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.

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|December 16, 2017
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Summary

Autosomal recessive hypercholesterolemia (ARH) is a rare genetic disorder in Spain, characterized by high LDL-C and cardiovascular risk. This study identified a low prevalence and high genetic diversity among Spanish ARH patients.

Keywords:
Autosomal recessive hypercholesterolemiaFamilial hypercholesterolemiaLDLRAP1

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Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Endocrinology

Background:

  • Autosomal recessive hypercholesterolemia (ARH) is a rare genetic disorder caused by LDLRAP1 mutations.
  • ARH leads to elevated LDL-C levels and premature cardiovascular disease.
  • Characterizing ARH in Spain is crucial for understanding its prevalence and genetic landscape.

Purpose of the Study:

  • To characterize Autosomal recessive hypercholesterolemia (ARH) in the Spanish population.
  • To investigate the genetic heterogeneity and clinical presentation of ARH.
  • To estimate the prevalence of ARH in Spain.

Main Methods:

  • Data collection from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
  • Comprehensive literature review up to June 2017.
  • Review of all diagnostic genetic studies for familial hypercholesterolemia in Spain.

Main Results:

  • Seven ARH patients were identified, including six true homozygous and one compound heterozygous with a novel mutation.
  • High genetic heterogeneity was observed in the Spanish ARH cohort.
  • ARH patients exhibited severe hypercholesterolemia, with 14% having cardiovascular disease and heterogeneous response to PCSK9 inhibitors.

Conclusions:

  • ARH is exceedingly rare in Spain, with an estimated prevalence of 1 case per 6.5 million.
  • The Spanish ARH population displays significant genetic heterogeneity.
  • Despite high LDL-C, ARH patients had a lower incidence of atherosclerotic cardiovascular disease (ASCVD) compared to homozygous familial hypercholesterolemia (HoFH).