Abstract Background and aims The 2021 European Society of Cardiology (ESC) guidelines, for managing dyslipidaemias in familial hypercholesterolaemia (FH) patients recommend a low-density lipoprotein-cholesterol (LDL-C) goal of 1.4 mmol/L for patients with atherosclerotic cardiovascular disease (ASCVD) or other major risk factors, and 1.8 mmol/L for FH patients without these conditions. While guidelines suggest referring suspected FH patients to specialist clinics, they lack consensus on long-term follow-up delivery. This observational study compares the long-term outcomes of patients who continued follow-up in secondary care versus those discharged to primary care after FH diagnosis. Our aim was to establish the best approach of long-term care for FH patients, especially as LDL-C targets are continually reviewed based on new evidence and treatments. Methods Data on Lipid profiles, CVD risk factors, ASCVD and type of lipid lowering treatment (LLT) were extracted from patients’ electronic records. Primary end points included cardiovascular events rates and the percentage of patients achieving LDL-C goals, stratified by cardiovascular risks, in primary versus secondary settings. Results The analysis included 340 genetically confirmed heterozygous FH patients diagnosed between 2005 and 2019. Thirty- seven patients were excluded due to the unavailability of lipid profiles, leaving a total of 303 patients (186 females and 117 males). Among these, 257 patients were genetically tested at age 18 years, and 46 were tested at 18 years old. Among the total patients, 25 experienced an ischemic cardiovascular event. Of these, 24 patients were genetically tested following the event and 1 before the event. The latter patient, who was followed up in secondary care, did not achieve the LDL-C target at the time of the event due to poor compliance with therapy. Ninety-six patients were followed up by secondary care, with 19 patients (19.8%) achieved LDL-C goals according to their risk class. Notably, 16 out of 19 (84.2%) on PCSK9 inhibitors. Conversely, of the 202 patients discharged to primary care, only 7 (3.5%) achieved LDL-C targets, including one very high-risk patient. Six out of 7 (85%) were on high intensity statins plus Ezetimibe, and 1 patient was on triple therapy (PCSK9i, Bempedoic acid and Ezetimibe). Five patients were lost from follow up. Conclusions Patients under follow up in secondary care achieved the recommended LDL-C ESC targets at a higher percentage compared to those discharged to primary care. We would recommend a stricter monitoring criterion to be implemented for primary care clinicians if patients are to be discharged. Regular updates on required treatment goals should be communicated to primary care, with annual reviews for all patients. If this is not achievable due to various reasons, then these patients might need to remain in secondary care for long term follow-up for.
R Tawfik (Sat,) studied this question.