{"id":"82f5da260636","type":"article","url":"https://hartvaat.nl/2026/03/20/hokuriku-plus-genetische-diagnose-bij-familiaire-hypercholesterolemie-verlaagt-m/","title":"Hokuriku-Plus: genetische diagnose bij familiaire hypercholesterolemie verlaagt MACE-risico onafhankelijk van LDL-C","title_en":"","category":"cholesterol","category_label":"Cholesterol","professions":["cardioloog","huisarts","internist"],"tags":["bempedoïnezuur","ezetimibe","familiaire-hypercholesterolemie","familiaire-hypercholesterolemie-screening","lipoproteïne-a"],"journal":"Circulation journal : official journal of the Japanese Circulation Society","doi":"10.1253/circj.CJ-25-1189","source_url":"https://doi.org/10.1253/circj.CJ-25-1189","authors":["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"],"significance":7,"published":"2026-04-19","source_date":"2026-03-20","image":"","kennis":["https://hartvaat.nl/kennis/lipiden/lpa-meten-wanneer-waarom/","https://hartvaat.nl/kennis/lipiden/familiaire-hypercholesterolemie/"],"congress":"","summary_en":"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.","created":"2026-07-03T10:32:45Z","updated":"2026-07-03T13:31:41Z","licence":"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.","body_markdown":"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.","abstract_original":"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."}