Sanne Krebbekx ₁, Kang Jing Zheng ₂, Sarah Rameckers ₁, G Kees Hovingh ₁, Janneke Wittekoek ₃, Erik Stroes ₁

Background

Conclusions & Clinical Perspective

The cessation of the central screening program for FH has resulted in a massive decrease in the number of new FH-index cases, with an even higher decrease in the number of relatives detected with FH.

These data emphasize the need for the new foundation LEEFH to further develop successful local strategies to promote family cascade screening programs in the Netherlands.

Methods

Results

Sanne Krebbekx, RNClinical Epidemiologist in trainings.krebbekx@amc.nl

Collapsed Detection of Familial Hypercholesterolemia cases in The Netherlands

₁Department of Vascular Medicine, AMC, Amsterdam, The Netherlands₂University of Amsterdam, Amsterdam, The Netherlands

₃Stichting LEEFH, Amsterdam, The Netherlands

Using the centralized database for FH, we analyzed retrospectively the yearly number of new index patients diagnosed with FH as well as the associated number of relatives screened from 2002 until 2014 in the Netherlands.

* Diagnoses for index versus non-index patients

* Positive and negative DNA tests

* Comparison between diagnoses during STOEH and diagnoses during LEEFH

Familial hypercholesterolemia (FH) is one of the most frequent, autosomal dominant diseases in the Netherlands.

After 20 years during which a nationwide screening program for FH was executed, the Ministry of Health decided to discontinue this successful program as of January 2014.

Subsequently, cascade screening for FH was referred to the hospitals, coordinated by stichting LEEFH.

In the present study we evaluated the consequences of this new, decentralized screening method to detect FH.

* From 2001 onwards, we observed a plateauing increase in index FH cases from 131 in 2001 to 1342 in 2013, leading to a cumulative number of FH patients detected of 27.000.

* Following the discontinuation of the central screening program January 2014, the incidence of DNA-confirmed FH index patients declined by 80 % (266 in 2014).

* In parallel, the number of siblings referred for FH-DNA diagnosis following a positive family index diagnosis declined by more than 95% (from 1000-1500 to < 50 relatives).

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FH diagnoses in The Netherlands 2002-2014Positive versus negative

PositiveNegative

Figure 1: All positive FH diagnoses for both index and non-index patients from 2002 until 2014 in The Netherlands. This figure shows a plateauing increase in index FH cases from 2001 to 2013. In 2014 we can see a decrease of 80% in the incidence of DNA-confirmed FH index patients. The number of siblings referred for FH-DNA diagnosis following a positive family index diagnosis decreased by more than 95% in 2014.

Figure 2: Positive and negative FH diagnoses in The Netherlands from 2002 until 2014. This figure shows a decrease in positive FH diagnoses as well as a declining number of FH DNA tests in 2014.

Figure legends

FiguresFigure 1 Figure 2