[ACR22] Rare and Autoinflammatory Diseases

Author: Francesca Crisafulli

Direskeneli et al. (2231) retrospectively investigated the rate of new major organ involvement and/or relapses during follow-up in 440 patients with Behçet disease (BD) under immunosuppressive treatment (IS). Relapses occurred in 68% of patients; new major organ involvement occurred in 11.6% and was more frequent under conventional IS than biologics (overall: 35% vs 20.8%, p=0.004; relapses: 29.4% vs 13.9%, p=0.001; new organ: 10.9% vs 6.9%, p=0.238); the cumulative event-free survival was higher in biologics compared to conventional IS (p=0.014). The course of the disease was more severe in male who were diagnosed at a younger age and had a history of BD in their 1st degree relatives.

Durucan et al (1834) evaluated the efficacy of canakinumab in 61 colchicine-resistant Familiar Mediterranean Fever patients. After canakinumab therapy, 21 patients (34.4%) reached remission, 34 patients (55.7%) had a decrease of at least 50% in attack frequency and 6 patients (9.8%) had unsatisfactory response. VAS scores and acute phase reactant levels decreased remarkably after treatment.

Kouranloo et al (0823) summarized the respiratory manifestations of VEXAS syndrome with a systematic literature review, including 36 articles, for a total of 269 patients. Pulmonary involvement at presentation occurred in 56.1%; infiltrates were the most common manifestation (43.1%), followed by pleural effusion (7.4%) and idiopathic interstitial pneumonia (3.3%). 

Katz et al (0144) described characteristics of 306 patients with IgG4-related disease according to complement levels. Patients with hypocomplementemia (30%) were more likely to have highly elevated serum IgG4 (52% vs 28%, p=0.001) and more commonly had submandibular gland, lymph node, lung, liver, and renal involvement as well as constitutional symptoms. Retroperitoneal involvement was unusual.

Luo et al. (2230) performed a case-control exome-wide rare variant association analysis in 66 patients with Relapsing Polychondirits (RP) and 2923 sex-matched controls. At gene-level analysis and pathway-level analysis, they identified specific rare variants in DCBLD2 and TNF pathway as putative genetic risk factors for RP.

Yun et al (1853) compared clinical, molecular, and therapeutic data of 40 patients with NLRP3 associated autoinflammatory disease (AID) and NLRP12-AID. 16 patients carried NLRP3 variants, 14 NLRP12 variants and 10 both. Most gene variants were of low penetrance. Headaches/dizziness was most frequent in NLRP3-AID (62.5% vs 14.29% vs 20%; p=0.01); gastrointestinal involvement was more frequent in NLRP12 and NLRP3/12 combined patients (64.29% and 70% vs 25%, p=0.046). IL-1 inhibitors seemed more effective in NLRP3-AID.

About the Author

Francesca Crisafulli


Francesca is a Rheumatologist at Rheumatology and Clinical Immunology Unit of the ASST Spedali Civili of Brescia, Italy. Her main area of interest are reproductive aspects of patients with rheumatic diseases and autoinflammatory diseases. Francesca is a member of the Visibility & Global Affairs Sub-Committee

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