{"id":"ff8acaccc32f","type":"article","url":"https://hartvaat.nl/2026/06/26/correctie-van-ldl-c-voor-lipoproteine-a-verbetert-diagnose-familiaire-hyperchole/","title":"Correctie van LDL-C voor lipoproteïne(a) verbetert diagnose familiaire hypercholesterolemie","title_en":"Improved diagnosis of familial hypercholesterolemia by correcting LDL-C for lipoprotein(a) in a German cohort.","category":"cholesterol","category_label":"Cholesterol","professions":["cardioloog","huisarts","internist"],"tags":[],"journal":"Journal of clinical lipidology","doi":"10.1016/j.jacl.2026.06.017","source_url":"https://doi.org/10.1016/j.jacl.2026.06.017","authors":["Rasmus Barkowski","Lorenz Rieck","Valentin Max Vetter","Thomas Grenkowitz","Dominik Spira","Knut Mai","Thomas Bobbert","Ursula Kassner","Ilja Demuth"],"significance":5,"published":"2026-08-06","source_date":"2026-06-26","image":"","kennis":["https://hartvaat.nl/kennis/lipiden/lpa-meten-wanneer-waarom/","https://hartvaat.nl/kennis/lipiden/dutch-lipid-clinic-network-score/"],"congress":"","summary_en":"A German cohort study of 384 patients suspected of familial hypercholesterolemia (FH) demonstrates that adjusting LDL-C for lipoprotein(a) improves diagnostic accuracy. Correcting LDL-C by 17.3% of the measured Lp(a) level significantly increased specificity for both the DLCN score and a fixed LDL-C cutoff, primarily by reclassifying false positives among genetically unconfirmed patients without compromising sensitivity. Implementing this simple correction could streamline FH screening, reduce unnecessary genetic testing, and minimize overdiagnosis in routine lipid management.","created":"2026-07-30T01:16:18Z","updated":"2026-08-10T10:36:55Z","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":"Een Duitse cohortstudie onder 384 patiënten met vermoeden van familiaire hypercholesterolemie (FH) toont aan dat het corrigeren van de LDL-C-waarde voor lipoproteïne(a) de diagnostische nauwkeurigheid verhoogt. Door de LDL-C met 17,3% van de gemeten Lp(a) aan te passen, nam de specificiteit van de DLCN-score en de LDL-C-cutoff significant toe, met name door valse positieven bij genetisch onbevestigde patiënten te reduceren zonder significante verlies aan sensitiviteit. Deze eenvoudige correctie kan onnodige genetische tests en overdiagnose bij FH voorkomen en de klinische screening stroomlijnen.","abstract_original":"BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant disorder with elevated low-density lipoprotein cholesterol (LDL-C), contributing to premature atherosclerotic cardiovascular disease. The Dutch Lipid Clinic Network (DLCN) score and an LDL-C cutoff of 190 mg/dL are used in FH screening. However, LDL-C can be overestimated because of cholesterol content from lipoprotein(a) (Lp(a)-C), which may affect diagnostic accuracy. OBJECTIVE: We examined how correcting LDL-C for Lp(a) influenced the ability of the DLCN score to discriminate between genetically confirmed (FH/M+) and genetically unconfirmed (FH/M-) patients with FH. METHODS: We analyzed 384 German patients with suspected FH (237 women, 147 men) who underwent genetic testing. LDL-C and DLCN scores were corrected by 17.3%, 30%, and 45% of measured Lp(a). For both, we evaluated and compared model discrimination and calibration using receiver operating characteristic statistics and calibration plots. RESULTS: LDL-C correction mainly reclassified patients with FH/M- (23-46), while FH/M+ reclassification was significantly less (7-20), depending on the correction level (17.3%, 30%, or 45%). 18 to 36 patients with FH/M- were reclassified from \"Possible\" to \"Unlikely,\" whereas FH/M+ reclassification was rare (0-4). LDL-C correction improved specificity with minimal sensitivity loss. Areas under the curve for DLCN (0.782-0.803) and LDL-C (0.791-0.797) were similar, with no significant differences in calibration, indicating comparable performance for FH/M+ prediction. CONCLUSION: Correcting LDL-C for Lp(a) improves diagnostic accuracy, especially by reducing false positives. A 17.3% correction effectively improved the specificity of DLCN and LDL-C while minimizing FH/M+ misclassification. LDL-C alone showed comparable performance to the DLCN score, supporting its potential as a practical diagnostic tool in clinical FH assessment."}