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
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
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
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
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/
Mytilinaiou M, et al. Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management. Front Pharmacol. 2018;9:707.
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.
Lui DTW, et al. Management of Familial Hypercholesterolemia: Current Status and Future Perspectives. J Endocr Soc. 2020;5(1):bvaa122.
Varghese MJ. Familial hypercholesterolemia: A review. Ann Pediatr Cardiol. 2014;7(2):107-17.
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.