An audit on the management of familial hypercholesterolaemia (FH) in the outpatient clinic setting

• Published in: Clinical medicine (London, England) England), 2024-04, Vol.24, p.100166, Article 100166
• Main Authors: Mustafa, Rafid, Htwe, Nyi, Fernandez, Cornelius, Hadi, Siti Abd, Mannath, Sathia, Sudarshanan, Aditya
• Format: Article
• Language: English
• ISSN: 1470-2118
• DOI: 10.1016/j.clinme.2024.100166

Familial hypercholesterolaemia is caused by a genetic defect with an autosomal dominant inheritance. It could be heterozygous (inherited from 1 parent) or homozygous (inherited from both parents). Heterozygous FH is common (1 in 250–500) whereas homozygous FH is rare (1 case per 1 million). •To audit the local practice to national guidelines (QS41 NICE, August 2013).•To study the efficiency of Simon Broome or DLCN criteria in clinical diagnosis of FH•To study the genetic mutation that is prevalent in FH patients in the local area.•To study the frequency of PCSK9 inhibitor use to achieve LDL targets in FH patients.•To study the proportion of FH patients achieving LDL targets.•To study the extent of cascade testing after a positive genetic mutation test. •Retrospective audit on Lipid Clinic cases at Pilgrim Hospital between 2016 and 2020.•Those who had a high clinical suspicion of FH were selected (sample size was 63).•45 were tested negative and 18 were tested positive for genetic mutation 198% of patients had an appropriate work up for FH prior to referral to the lipid clinic.2Only 11% of lipid clinic patients were assessed with Simon Broome or DLCN criteria.36% of genetic mutation positive cases met Simon Broome criteria (low sensitivity).428% of genetic mutation positive cases met DLCN criteria (moderate sensitivity).597% of lipid clinic patients were assessed for stigmata of FH including xanthoma.6Every lipid clinic patient with high clinical suspicion of FH had genetic mutation test.7Every FH patient were given lipid-modifying therapy to reduce LDL by 50% in 1 year.789% patients with proved genetic mutation were offered a cascade testing. 1Overall, there is a good compliance to the NICE proposed standards.2Noted poor compliance in the documentation of the clinical assessment using Simon Broome or DLCN criteria, the most likely reason for which is the time constraints.3Simon Broome criteria has a low sensitivity compared to DLCN criteria probably due to its qualitative nature, and due to its reliance on tendon xanthomas which are rare.4Clinicians seeing possible FH patients should be familiar with DLCN criteria, so that they can complete it in the limited time available during the outpatient clinic settings.5Genetic tests showed that LDLR mutation contributed to 78%, ApoB to 17%, and ApoE to only 5%. This is comparable to JACC data showing proportion of LDLR mutation of 90%, ApoB 5–10%, and PCSK9