Clin Res Cardiol (2023). https://doi.org/10.1007/s00392-023-02180-w
Prevalence of familial hypercholesterolemia in patients scheduled for coronary angiography: results from the Ludwigshafen Risk and Cardiovascular Health Study
S. Molnar1, H. Scharnagl2, U. Laufs3, W. März4, M. E. Kleber1, J. Katzmann3
1Med V. - Nephrologie, Endokrinologie und Rheumatologie, Universitätsklinikum Mannheim, Mannheim; 2Medizinische Universität Graz, Graz, AT; 3Klinik und Poliklinik für Kardiologie, Universitätsklinikum Leipzig, Leipzig; 4SYNLAB Akademie, SYNLAB Holding Deutschland GmbH, Mannheim;

Aims

Several clinical criteria to diagnose familial hypercholesterolemia (FH) have been developed, while genetic testing remains the gold standard. The objective of this study was to investigate the prevalence of FH with commonly used clinical criteria and genetic testing in patients undergoing coronary angiography.

Methods

The prevalence of FH was estimated using the Dutch Lipid Clinical Network (DLCN), the US “Make Early Diagnosis to Prevent Early Death” (US-MEDPED) criteria, the Simon Broome (SB) criteria, and the “Familial Hypercholesterolaemia Case Ascertainment Tool” (FAMCAT) in patients undergoing coronary angiography in the Ludwigshafen Risk and Cardiovascular Health (LURIC) study. Genetic diagnosis was facilitated using a Custom Array from Affymetrix (CARRENAL array) featuring 43,094 SNPs including 944 SNPs classified as FH mutations.

Results

The study cohort consisted of 3267 patients (78.6% with coronary artery disease [CAD]). FH was diagnosed in 2.8%, 2.2%, 3.9%, and 7.9% using the DLCN criteria, US-MEDPED, SB criteria, and the FAMCAT (Figure). Genetically, FH was diagnosed in 1.2% of patients, whereby more patients with CAD (1.2%) had FH as compared to those without (1.0%). A similar pattern was observed for all clinical criteria except FAMCAT, where slightly more patients without CAD were diagnosed with FH (10.0% vs. 7.3%). FH was more frequently diagnosed in younger patients. In patients with angiographically proven CAD, there was a consistent trend of higher prevalence rates of FH in patients at younger age for all clinical criteria and for genetic testing (Table).

Conclusions

Genetically proven FH is approximately 12fold more prevalent in patients undergoing coronary angiography compared to the general population. The application of different clinical diagnostic criteria results in substantially different rates of diagnosed FH, whereas patients with angiographically proven CAD tended to have higher rates of diagnosed FH than patients without CAD. FH was more prevalent in younger patients, possibly due to survivor bias. Our results underline the importance of early and specific diagnosis of FH, especially in young patients at elevated cardiovascular risk.




Table

 

Possible FH (% [n])

p

Age (years)

<40

40–50

50–60

>60

All patients (n=3267)

DLCN

4.5 (4)

6.9 (23)

4.1 (32)

1.6 (34)

<0.001

US-MEDMED

3.4 (3)

2.7 (9)

3.1 (24)

2.2 (37)

0.158

Simon Broome

4.5 (4)

6.2 (21)

4.6 (36)

3.2 (66)

0.034

FAMCAT

28.4 (25)

22.8 (77)

11.2 (87)

3.3 (69)

<0.001

Genetic testing

3.8 (3)

1.0 (3)

1.2 (8)

1.0 (18)

0.155

Angiographic CAD (n=2567)

DLCN

11.1 (4)

10.6 (23)

5.3 (32)

2.0 (34)

<0.001

US-MEDMED

8.3 (3)

4.1 (9)

3.6 (22)

2.1 (36)

0.016

Simon Broome

11.1 (4)

7.8 (17)

5.6 (34)

3.5 (59)

0.001

FAMCAT

38.9 (14)

23.5 (51)

11.6 (70)

3.1 (53)

<0.001

Genetic testing

6.1 (2)

1.6 (3)

1.0 (5)

1.1 (16)

0.061

https://dgk.org/kongress_programme/jt2023/aP888.html