FRI0618 ANALYSIS OF NEW REFERRALS TO A SPECIALIST UK ADULT AUTOINFLAMMATORY DISEASE SERVICE
Authors: Serdal Ugurlu, Philip N. Hawkins, Charalampia Papadopoulou, Tamer Rezk, Dorota Rowczenio, Helen J. Lachmann
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background</h3> Diagnosis of the systemic autoinflammatory diseases (SAIDs) requires a high index of suspicion and previous series has suggested that there are often long diagnostic delays, particularly in TRAPS and MKD. <h3>Objectives</h3> To look at the case mixed referred to a single adult clinic in London specialising in assessment of potential SAIDS over the course of the year of 2017. <h3>Methods</h3> All new referrals were accepted for clinical assessment. At the first visit patients had a full history and examination, genetic testing – varying from single gene to a 20 gene panel depending on clinical features, and laboratory testing including fortnightly blood draws for serial analysis of the hepatic acute phase response proteins, CRP and SAA over a 3 month period. Patients with a non suggestive history, non contributory genetic testing and no evidence of inflammation accompanying symptoms were felt not to have SAIDS and referred back to their local hospitals for further management. Other cases were diagnosed based on full clinical assessment, other investigations – for example ferritin in AOSD, genetic testing results, serial monitoring of CRP and SAA and therapeutic trials, for example colchicine in presume FMF and anti IL-1 therapies in CAPS and Schnitzler's syndrome <h3>Results</h3> 273 new patients were referred. Median age at referral was 37.4 years, the oldest patient was 84.3 years old and 59% were female. 174 (64%) were of northern European ancestry, 68 (25%) were eastern Mediterranean, west Asian or southern European ancestry, 19 (7%) were of south or east Asian ethnicity and 4% were of African or Afro-Caribbean ancestry. 76% of referrals were from hospital specialities. The referral source was: rheumatology 38%, general practitioner 24%, dermatology 8%, immunology 8%, gastroenterology 6%, infectious diseases 3%, clinical genetics 3%, nephrology 2%, haematology 2%, gynaecology 2%, emergency department 1%, respiratory 1%, other 2%. After work up 135 (49.5%) were felt not to have a SAID as the cause of their symptoms. Of the remaining 138 patients who did have evidence of a SAID the diagnoses made were: FMF 33%, uncharacterised SAID 26%, CAPS 9%, AOSD 8%, recurrent idiopathic pericarditis 6%, Schnitzler's Syndrome 5%, TRAPS 4%, variant PFAPA 4%, DADA2 1%, MKD 1%, CRMO 1%, Behcets 1%, Cattleman's disease 1%. The median interval between reported symptom onset and diagnosis were as follows: 16 yrs for FMF, 28.1 yrs for CAPS, 5.0 years for recurrent idiopathic pericarditis, 4.5 yrs for Schnitzler's Syndrome, 5.7 yrs for TRAPS, 20.5 yrs for variant PFAPA, 12.5 yrs for DADA2, 17 yrs for MKD and 2 years for CRMO. <h3>Conclusion</h3> This series suggests that recognition and diagnosis of the SAIDS remains a challenge. More than 1/3 of referrals were from rheumatology, referrals from primary care were almost exclusively from patients with a known family history of one the inherited syndromes. The wide variety of referring specialities reflects the diverse nature of SAIDS and the importance of almost all specialities considering the possibility of SAIDS. Only just over 50% referrals had evidence of diseases falling within the recognised SAID spectrum and 26% of these have currently uncharacterised disease with non diagnostic genetic testing. Of those in whom a diagnosis could be made there are significant diagnostic delays fortunately despite late initiation of treatment no patients had evidence of systemic AA amyloidosis. <h3>Disclosure of Interests</h3> Serdal Ugurlu: None declared, Philip N Hawkins: None declared, Charalampia Papadopoulou: None declared, Tamer Rezk: None declared, Dorota Rowczenio: None declared, Helen J. Lachmann Grant/research support from: SOBI, Novartis, Consultant for: Novartis, Takeda, Speakers bureau: SOBI. Novartis