# Hokuriku-Plus: genetische diagnose bij familiaire hypercholesterolemie verlaagt MACE-risico onafhankelijk van LDL-C

*geplaatst 2026-04-19 · Cholesterol · Circulation journal : official journal of the Japanese Circulation Society · doi 10.1253/circj.CJ-25-1189 · https://hartvaat.nl/2026/03/20/hokuriku-plus-genetische-diagnose-bij-familiaire-hypercholesterolemie-verlaagt-m/*

In het Japanse Hokuriku-Plus-register (n=386 heterozygote FH) ondergingen 52% van de patiënten genetisch onderzoek. Zij bereikten lagere LDL-C-waarden (102 vs 130 mg/dL) én hadden — na correctie voor LDL-C — een 34% lager risico op MACE (HR 0,66). Het onderzoek suggereert dat de diagnose op zichzelf therapietrouw en intensiteit van behandeling verbetert. Relevant voor cardiologen en huisartsen die FH-diagnostiek afwegen.

## English: 

In the Japanese Hokuriku-Plus registry (n=386 heterozygous FH), 52% of patients underwent genetic testing. These patients achieved lower LDL-C (102 vs 130 mg/dL) and had 34% lower MACE risk (HR 0.66) even after adjusting for LDL-C over 3.9-year median follow-up. The results suggest genetic confirmation itself drives better adherence and treatment intensity, arguing for broader FH genetic testing in clinical practice.

## Abstract (original, from the publication)

BACKGROUND: We aimed to clarify the impact of genetic testing on major adverse cardiovascular events (MACE) among patients with heterozygous familial hypercholesterolemia (HeFH) using data from the Hokuriku-plus FH Registry (UMIN000038210). METHODS AND RESULTS: In all, 431 patients were enrolled in the study, with a median follow-up of 3.9 years. The primary outcome was time to first MACE, defined as cardiovascular death, non-fatal myocardial infarction, coronary revascularization, or non-fatal stroke. Using Cox proportional hazards regression models, we examined whether undergoing genetic testing was associated with a reduced risk of MACE. Among the 431 patients, sufficient data were available for 386 with HeFH, of whom 202 (52.3%) underwent genetic testing. Low-density lipoprotein cholesterol (LDL-C) levels at follow-up were significantly lower in group that underwent genetic testing than in the group that did not (median 102 vs. 130 mg/dL, respectively; P<0.001). During follow-up, 23 MACE occurred (18 in the non-testing group and 5 in the genetic testing group). Notably, undergoing genetic testing was significantly associated with a reduced risk of MACE, even after adjusting for LDL-C levels (hazard ratio 0.66; 95% confidence interval 0.20-0.92; P=0.033). CONCLUSIONS: Genetic testing in patients with HeFH was associated with a reduced risk of MACE independent of LDL-C. Randomized controlled trials will be needed to clarify whether providing genetic testing can reduce MACE among patients with HeFH.

Auteurs: Hayato Tada, Yasuaki Takeji, Chiaki Goten, Hirofumi Okada, Shohei Yoshida, Masaya Shimojima, Akihiro Nomura, Mika Mori, Shin-Ichiro Takashima, Takeshi Kato, Soichiro Usui, Kenji Sakata, Kenshi Hayashi, Noboru Fujino, Katsuhiko Nagase, Masa-Aki Kawashiri, Masayuki Takamura

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Bron: Circulation journal : official journal of the Japanese Circulation Society, https://doi.org/10.1253/circj.CJ-25-1189. Bijgewerkt 2026-07-03T13:31:41Z. Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.