BMJ Open · 4 authors, 4 centres
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Among 2797 patients admitted for ischaemic heart disease, 7.7% had potential familial hypercholesterolaemia (FH), yet none were previously diagnosed. Only 26.1% of potential FH patients were on lipid-lowering therapy, and almost none achieved LDL-C goals. This highlights a critical missed opportunity for diagnosis and treatment, especially in younger patients with premature IHD.
**Background:** Familial hypercholesterolaemia (FH) is a genetic disorder causing lifelong elevation of LDL-C, leading to very high risk of premature ischaemic heart disease (IHD). Despite effective treatments, FH is underdiagnosed globally. This study aimed to assess the prevalence of FH among patients admitted for IHD and evaluate their preventive treatment status.
**Methods:** This retrospective, register-based study included consecutive patients discharged with IHD diagnoses (ICD-10: DI20, DI21, DI24, DI25) from two Copenhagen hospitals between 2012 and 2016. Of 4223 patients, 2797 (66.2%) had an available LDL-C measurement and were included. Clinical FH was assessed using the Dutch Lipid Clinic Network (DLCN) criteria, with potential FH defined as DLCN score ≥3. LDL-C values were adjusted for lipid-lowering therapy (LLT) using correction factors. Treatment goals followed 2016 ESC guidelines (LDL-C <1.8 mmol/L). Statistical comparisons used unpaired t-tests and Fisher's exact test.
**Key Results:** The mean age was 66.3 years, 59.6% male. Potential FH prevalence was 7.7% (1:13), with 0.9% (1:116) having probable/definite FH (DLCN ≥6). Among 680 patients (24.3%) with premature IHD (men <55, women <60 years), potential FH prevalence was 20.0% (1:5) and probable/definite FH 3.1% (1:32). Patients with potential FH were significantly younger (mean 58.0 vs. 67.0 years, p<0.001) and had higher mean LDL-C (4.46 vs. 2.50 mmol/L, p<0.001). Only 26.1% of potential FH patients were on statins, similar to the unlikely FH group (26.1%). Among those with prior IHD and potential FH, none had LDL-C <1.8 mmol/L. Only 6 patients (4.3%) with potential FH and no prior IHD achieved the less stringent goal of LDL-C <2.6 mmol/L. None of the patients had a documented FH diagnosis prior to admission.
**Clinical Implications:** This study reveals a massive underdiagnosis and undertreatment of FH in patients hospitalized with IHD. The high prevalence, especially in premature IHD, underscores the need for systematic screening in cardiac care units. Hospital admission for chest pain represents a critical opportunity to identify index FH patients and initiate cascade screening of family members. The failure to diagnose and treat FH contributes to preventable cardiovascular events and mortality. Clinicians should maintain a high index of suspicion for FH in patients with elevated LDL-C, early-onset IHD, or family history of CVD, and aggressively pursue lipid-lowering therapy to guideline-recommended targets.