What is FH?1,2

Familial hypercholesterolemia (FH) is a genetic disorder of the lipoprotein metabolism, which is characterized by significantly elevated low-density lipoprotein-cholesterol LDL-C

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The Dutch Lipid Clinical Network (DLCN) is a scoring criteria for diagnosing FH.
It has been recommended by the European Atherosclerosis Society (EAS) to identify people with FH.1

The DLCN score is a validated
set of criteria based on3

  • Family history of
    premature CVD in their
    family members

  • Their own CVD history

  • Untreated lipid levels

  • Physical signs

Signs and
symptoms 1,5,6

Patients with HoFH or compound HeFH present with distinctive and severe clinical manifestations very early in life (< 10 years old). On the other hand, patients with HeFH are, by and large, asymptomatic in childhood and adolescence and typically diagnosed by screening methods. 6

Familial Hypercholesterolemia

Diagnosing FH

FH still remains greatly underdiagnosed, so it is crucial to know whom to screen and to identify index cases. If FH individuals are suspected the following tests and screenings can be done.1

Screening
Diagnostic Criteria
Genetic Testing
Cascade Screening

MANAGING FH

FH is an inherited condition, but it is manageable when diagnosed early. If the patient has not shown any clinical symptoms, prevention of primary manifestation is prioritized. Otherwise, treating and mitigating further complications should be the focus.1

The treatment goals are2

  • To reduce the cumulative burden of elevated
    LDL-C levels
  • To control/ mitigate the development of further cardiovascular diseases
Treatment options

Want to improve the detection,
management and
care of individuals and families
with FH in Thailand?

Join the Thai FH registry
and study group!

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    information and
    educational materials
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    collaboration

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REFERENCES:
  1. Ison HE, et al. Familial Hypercholesterolemia. 2014 Jan 2 [Updated 2022 Jul 7]. In: GeneReviews®. Seattle (WA): University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK174884/
  2. Mytilinaiou M, et al. Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management. Front Pharmacol. 2018;9:707.
  3. Nordestgaard BG et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013; 34:3478a-3490a.
  4. Lui DTW, et al. Management of Familial Hypercholesterolemia: Current Status and Future Perspectives. J Endocr Soc. 2020;5(1):bvaa122.
  5. Varghese MJ. Familial hypercholesterolemia: A review. Ann Pediatr Cardiol. 2014;7(2):107-17.
  6. Rallidis LS, et al. The value of physical signs in identifying patients with familial hypercholesterolemia in the era of genetic testing. J Cardiol. 2020;76(6):568-572.