P001 An audit on the management of Familial Mediterranean Fever in Malta

Background/Aims Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterised by mutations of the pyrin gene on chromosome 16, for which colchicine remains first-line therapy. EULAR 2016 guidelines emphasise early diagnosis, regular monitoring and systematic follow-up of FMF. This audit assesses management of FMF in Malta against these standards. Methods Following ethics approval, 128 case records dating from between February 2002 and June 2024 from the Clinical Genetics Laboratory at Mater Dei Hospital were analysed, with 61 cases of FMF identified. Data were extracted from written records and iSOFT Clinical Manager. Audit standards were based on EULAR 2016 guidance. Results Of 61 patients, 68.9% (n = 42) were male and 31.1% (n = 19) female. 85.2% (n = 52) were of Maltese ethnicity. 26.2% (n = 16) were diagnosed in childhood, of whom 3 (4.92%) are under current paediatric follow-up. 1 death was documented (1.6%). Diagnostic delay exceeded 10 years from symptom onset in 29.5% (n = 18), while 14.8% (n = 9) of cases were diagnosed within 2 years. A mean of 3.3 (SD ± 1.6, range 1.0-8.0) specialties were consulted prior to diagnosis. While colchicine was initiated prior to genetics in 27.9% (n = 17), prescription was delayed >1 month after genetic diagnosis in 18.0% (n = 11). 54.1% (n = 33) had initial follow-up within 6 months as per EULAR recommendations. Flare-ups on colchicine were documented in 44.3% (n = 27). Dose escalation followed in 88.9% (n = 24), although in only 8.3% (n = 2) of these was 3-monthly SAA or CRP monitored as per EULAR guidance. Colchicine intolerance was documented in 34.4% of patients (n = 21), most frequently diarrhoea (59.1%, n = 13) or nausea and vomiting (18.2%, n = 4). 11.5% (n = 7) of patients were non-responders to colchicine, with 71.4% (n = 5) of these started on IL-1 blockade with anakinra. No patients were prescribed canakinumab. Of the patients on anakinra, 60.0% (n = 3) required IL-6 blockade with tocilizumab. Six-monthly monitoring of treatment response, toxicity and compliance of patients on colchicine, as per EULAR recommendations, was documented in 31.2% (n = 19) in the period between 2019-2023. Amongst the 39.3% (n = 24) monitored with yearly bloods, SAA and CK were routinely requested as per EULAR advice only in a minority (SAA in 20.9%, n = 5; CK in 12.5%, n = 3). Of the 17 cases (27.9%) deemed stable for ≥5 years, expert input aiming at dose reduction, as per EULAR, was documented in 88.2% (n = 15). Dose reduction was attempted in 53.3% (n = 8) of these. Continuous three-monthly monitoring of SAA/CRP during dose reduction, as per EULAR, was not documented in any case. Conclusion Monitoring of FMF in Malta only partly aligns with EULAR 2016 recommendations. Important issues identified against EULAR advice include diagnostic delay; infrequent and/or irregular follow-up; inadequate monitoring of SAA/CRP during dose escalation or reduction; and absence of alternative therapeutic agents such as canakinumab in colchicine-resistant patients. Disclosure A. Camilleri: None. R. Magro: None. F. Camilleri: None. C. Scerri: None.