Feasibility study to boost ascertainment of FH in diverse primary care populations using FAMCAT tool and pharmacist review
Authors: Islam M , L'esperance V , Akyea R , Ayis S , Parmar D , Fisher M , Patel R , Rao N , Ranasinghe R , Harding S , Wierzbicki A , Qureshi N , Molokhia M 
Published: October 2024

Background

Familial Hypercholesterolaemia (FH) is a greatly underdiagnosed genetic lipid disorder with high risk of morbidity from premature cardiovascular disease. However, early diagnosis can significantly reduce cardiovascular risk with lipid-lowering medicines. Patients identified with high risk primary dyslipidaemia are recommended for lipid clinic referral to inform patient management. Improving FH identification and addressing ethnic disparities in dyslipidaemia management, is a current NHS priority in the UK.

Aim

We aimed to explore inequalities in the FH care pathway within and across areas with different socio-demographic UK populations.

Methods

The study was carried out in 6 general practices in the South East of England with divergent ethnic densities and socioeconomic status. Eligible patients aged 18 years or over, fulfilling the NICE (1), Simon-Broome (2) and current NHS Directed Enhanced Service criteria (3) for possible FH were screened using our previously validated PRIMIS FAMCAT2 tool (4) to prioritise those most likely to have FH.

The PRIMIS FAMCAT2 tool generated a report highlighting patients with a "High Risk" of FH Tier 1 and a "Higher Risk if family history is positive" of FH- Tier 2. Tier 1 patients were assessed for FH using local lipid pathways. For the 243 Tier 2 patients, an online family history questionnaire/telephone enquiry was administered. The accuracy of the information collected was assessed by a practice-based clinical pharmacist (overseen by the GP). This included repeat testing for full lipid profile, excluding secondary causes of raised cholesterol. New patients meeting the criteria for FH were referred to a lipid/specialist clinic to assess for genetic testing. Patients who did not meet the FH criteria were managed accordingly to the local lipid pathways.

Results

131,930 records from 6 general practices in South East England were screened using the PRIMIS FAMCAT tool. In total, the high priority list yielded 369 patients (126 Tier 1 and 243 Tier 2). Ethnicity breakdown was White (40%), Asian (8%), Black African/Caribbean (22%), Mixed (14%), Other (16%) NS (1%). A total of 25/369 (7%) patients were previously referred to lipid clinics (4 underwent genetic testing, 2 had confirmed FH, 12 did not have FH, and 7 were not seen/missed appointments). There were 14/244 (4%) new referrals to lipid clinics. Only 1 patient had received a coded FH diagnosis in the primary care record. For Tier 2 patients, 65/243 (27%) patients completed an online family history questionnaire, the remainder were ascertained by phone (75% response rate overall).

Conclusion

Incorporating enhanced case-finding from electronic medical records based on current guidelines, and online family history questionnaire can enhance FH identification. However large inequalities remain in referral, attendance and testing at lipid clinics, and further work is underway to evaluate the FH care pathway in diverse populations.