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Ann Bovin1, Helle Kanstrup2, Martin Bøtker Mortensen2

  • 1Hjertesygdomme, Sygehus Lillebælt - Vejle Sygehus.

Ugeskrift for Laeger
|November 12, 2024
PubMed
Summary

Familial hypercholesterolaemia (FH) is a common genetic condition often undiagnosed, increasing cardiovascular risk. Early diagnosis and treatment, recommended from age 7-10, significantly reduce this risk.

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Area of Science:

  • Genetics and Cardiovascular Medicine

Background:

  • Familial hypercholesterolaemia (FH) is a prevalent monogenic disorder.
  • A significant number of FH cases remain undiagnosed in Denmark.
  • Untreated FH leads to a substantially elevated risk of premature cardiovascular disease.

Purpose of the Study:

  • To review the diagnosis and management of Familial hypercholesterolaemia.
  • To emphasize the critical need for early detection and intervention in FH.
  • To highlight the role of general practitioners and lipid clinics in FH care.

Main Methods:

  • Review of current literature and clinical guidelines for FH.
  • Analysis of diagnostic pathways and screening strategies.
  • Examination of treatment initiation recommendations.

Main Results:

  • FH affects approximately 1:220-1:250 individuals in Denmark.
  • Early treatment is crucial for mitigating cardiovascular risk in FH patients.
  • Lipid clinics manage diagnosis, cascade screening, and treatment.

Conclusions:

  • Early diagnosis and treatment initiation are vital for managing FH.
  • Treatment for FH is recommended to commence between the ages of 7 and 10.
  • General practitioners play a key role in identifying and referring potential FH cases.

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