{"id":"a9f887cb6d7d","type":"article","url":"https://hartvaat.nl/2026/01/29/nla-consensusupdate-familiaire-hypercholesterolemie-screening-diagnostiek-en-beh/","title":"NLA-consensusupdate familiaire hypercholesterolemie: screening, diagnostiek en behandeling","title_en":"Update on familial hypercholesterolemia: An expert clinical consensus from the National Lipid Association.","category":"cholesterol","category_label":"Cholesterol","professions":["apotheker","cardioloog","huisarts","internist"],"tags":["familiaire-hypercholesterolemie","familiaire-hypercholesterolemie-screening"],"journal":"Journal of clinical lipidology","doi":"10.1016/j.jacl.2026.01.011","source_url":"https://doi.org/10.1016/j.jacl.2026.01.011","authors":["Zahid Ahmad","Anandita Agarwala","Marina Cuchel","P Barton Duell","Robert A Hegele","Lisa Hudgins","Allison Jamison","Dinesh Kalra","Amit Khera","Joshua W Knowles","Iftikhar J Kullo","Ana Morales","Mark A Rothstein","Joseph J Saseen","Daniel E Soffer","Bruce A Warden","William S Weintraub","Lauren Williams","Anne C Goldberg"],"significance":6,"published":"2026-01-29","source_date":"2026-01-29","image":"","kennis":["https://hartvaat.nl/kennis/lipiden/familiaire-hypercholesterolemie/","https://hartvaat.nl/kennis/lipiden/lp-a-verhoogd/"],"congress":"","summary_en":"This NLA expert consensus update on familial hypercholesterolemia provided revised guidance on FH screening, diagnosis, and treatment including cascade testing, pediatric management, and the expanding role of PCSK9 inhibitors and inclisiran.","created":"2026-07-03T10:24:55Z","updated":"2026-07-03T13:24:24Z","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":"De National Lipid Association publiceert een geactualiseerd expertconsensus over familiaire hypercholesterolemie, met richtlijnen voor screening, genetische diagnostiek, lipidenmanagement en de inzet van nieuwe therapieën zoals PCSK9-remmers en Lp(a)-verlagende middelen. De prevalentie is hoger dan eerder gedacht, met wereldwijd 1 op 250 personen.","abstract_original":"Familial hypercholesterolemia (FH) is a common genetic disorder characterized by lifelong elevated low-density lipoprotein cholesterol (LDL-C), leading to a high risk of early onset atherosclerotic cardiovascular disease (ASCVD). This document provides an update to the National Lipid Association's 2011 clinical guidance, summarizing the remarkable progress in the field. With a global prevalence of approximately 1 in 311, FH remains severely underdiagnosed. This guidance reviews current diagnostic criteria, including the expanding role of genetic testing to complement diagnosis and to facilitate cascade screening, and emphasizes a thorough differential diagnosis. It provides recommendations for universal pediatric screening and systematic cascade screening in families to improve detection. Management strategies include intensified LDL-C treatment goals for both primary and secondary prevention of ASCVD. A stepwise approach to optimal therapy is outlined, beginning with lifestyle interventions and pharmacotherapy with maximally tolerated statins and ezetimibe. This update incorporates newer agents, including proprotein convertase subtilisin/kexin type 9 inhibitors and bempedoic acid. Additional therapies, such as lomitapide and evinacumab for homozygous FH and lipoprotein apheresis for heterozygous and homozygous FH, are discussed. Further topics include cardiovascular imaging for risk stratification, management in specific populations and circumstances, such as planning for and during pregnancy and in pediatrics, and recognition of health disparities. This guidance equips clinicians with evidence-based strategies to improve the identification and care of patients with FH, ultimately reducing the high morbidity and mortality associated with this condition."}