EULAR Abstract Archive

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AB1316 (2022)

PREVALENCE, DIAGNOSTIC DELAY AND TREATMENT PROFILE OF PATIENTS WITH MONOGENIC AUTOINFLAMMATORY DISEASES IN AN ADULT RHEUMATOLOGY SERVICE OF A TERTIARY HOSPITAL.

C. Pávez Perales¹, E. Molina Rus², E. Grau García¹, M. De la Rubia Navarro¹, S. Leal Rodriguez¹, C. Riesco Barcena¹, A. V. Huaylla Quispe¹, P. Muñoz Martinez¹, L. Mas Sanchez¹, J. Ivorra Cortés^1,2, J. E. Oller Rodríguez¹, J. J. Fragío Gil¹, R. González Mazarío¹, I. Cánovas Olmos¹, I. Martínez Cordellat¹, E. Vicens Bernabeu¹, F. Ortiz-Sanjuán¹, R. Negueroles Albuixech¹, L. Gonzalez Puig¹, C. Nájera Herranz¹, J. A. Román Ivorra^1,2

¹La Fe University and Polytechnic Hospital, Rheumatology, València, Spain
²Universidad Católica de Valencia San Vicente Mártir, Medicina, València, Spain

Background: Monogenic autoinflammatory diseases (MAISs) have a low prevalence and a delay in their diagnosis, with the risk of complications being AA amyloidosis the most serious. Biological therapy has been a fundamental pillar in improving the prognosis of these diseases, reducing said risk.

Objectives: We aim to study the prevalence, diagnostic delay and treatment profile of MAISs patients in an adult rheumatology service of a tertiary hospital.

Methods: Observational and retrospective study of patients with MAISs, excluding those without genetic test or negative genetic test, with a follow-up period of 17 years (2005-2021). Demographic, clinical and therapeutic variables were collected.

Results: 24 patients (50% men) were included with a mean age of 27,88 ± 11.57y. The prevalence of MAISs was 0.34%, from a total of 7,032 patients followed up in the Rheumatology service during 2020. Familial Mediterranean Fever (FMF) was the most frequent (70.83%). FMF, Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), and Hyperimmunoglobulin D Syndrome (HIDS) had a median age at symptom onset of 6, 8.5 and 2 years, a median diagnostic delay of 6, 8.75 and 11 years and a mean duration of the bouts of 4.47 (2.87), 12.25 (7.59) and 6 (2.65) days, respectively. The most frequent symptoms were: fever (79.17%), arthralgia/arthritis (79.17%) and abdominal pain (75%). During follow up 20.83% received glucocorticoids (GC) chronically (more than 3 months), 79.16% colchicine, 16.66% methotrexate and 41.66% biological therapies ( Table 1 ). At the end of follow up 4.17% were receiving GC, 79.16% colchicine, 4.16% methotrexate and 33.33% biological therapies ( Table 1 ). No AA amyloidosis or deaths were reported.

Table 1.

MAISs	Gender (men % )	Biological therapies prescribed during follow up (n )	Patients under biological therapies at the end of follow up (n )
FMF (n=17 )	41.17%	Anakinra: 2	Anakinra: 3
		Canakinumab: 2	Canakinumab: 2
		Etanercept: 1
		Tocilizumab: 1
TRAPS (n=4 )	100%	Anakinra: 1	Canakinumab: 1
		Canakinumab: 1
		Etanercept:
		Tocilizumab:
HIDS (=3 )	66.66%	Anakinra: 3	Canakinumab: 2
		Canakinumab: 3
		Etanercept. 1

Conclusion: MAISs prevalence was 0.34%. The diagnostic delay was of years, more than a decade for HIDS. Colchicine was widely used and well tolerated. Synthetic DMARDs had little role in treatment. Biological therapies were prescribed in a third of patients, anti IL-1 being the most used.

Disclosure of Interests: None declared

Citation: , volume 81, supplement 1, year 2022, page 1765

Session: Other orphan diseases (Publication Only)

version:	1.02