A mixed methods study of the awareness, diagnosis, and management of Familial Hypercholesterolaemia in Irish General Practice

Robyn Homeniuk, Joseph Gallagher, Claire Collins

Keywords: primary care, general practice, familial hypercholesterolaemia, hyperlipidemia, record screening, LDL cholesterol

Background:

Familial Hypercholesterolemia (FH) is a common genetic disorder, with an estimated global prevalence of 1:200-500, which leads to premature cardiovascular disease. It is estimated that there are 30,000 largely undiagnosed cases of FH in Ireland.

Research questions:

What is the current level of awareness of FH among Irish GPs? Is a model of care including electronic record screening, clinical assessment, and coding of possible FH patients feasible in general practice?

Method:

The study included a validated questionnaire, tailored online educational resources, a retrospective chart review of patients with a history of elevated LDL cholesterol (LDLc) and finally an active review with a selection of those patients.

Results:

Eighteen general practices agreed to take part in the study. In the initial survey, respondents rated their personal and practice familiarity with FH as slightly below average. Around one-third of respondents were unaware of guidelines for detecting and managing FH. Of over 55,000 adult patient records searched, only 0.2% had a recorded FH diagnosis and 3.9% had ever had an LDLc above 4.9mmol/l. Eight practices completed 198 chart reviews. Among these, 29.8% of patients had a family history recorded, and 22.2% had a family history of CVD. Female patients had higher averages for the highest and recent LDLc. Seventy patients underwent a clinical review – with 27% of these patients identified as ‘probable’ or ‘definite FH’. There was a statistically significant (p=0.002) relationship between FH status and whether the patient had other CVD risk factors.

Conclusions:

General practitioners in Ireland had similar levels of awareness of FH compared to international results. The activities of this project encouraged clinicians to consider FH during consultations, especially for those with elevated LDLc at a young age. Wider awareness of the condition in public and in general practice could increase conversations about FH and benefit patient outcomes.

Points for discussion:

As a GP, how do you make time for research/what would encourage you to participate in such projects?

As the practices are aware of this condition why is recognition of it in practice so low? Is taking a family history and/or checking for FH routine?

How could we improve diagnosing of FH in general practice without it being overly resource intensive? What is disease coding like where you are from?

#90