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. 2022 May 4:15:999-1010.
doi: 10.2147/JMDH.S351546. eCollection 2022.

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases

Carolina Zinterl  1   2   3 , Patrícia Costa-Reis  1   4   5 , Isabel Castro Esteves  5 , José Gonçalo Marques  5 , Ana Berta Sousa  5   6 , João Eurico Fonseca  2   3 , Filipa Oliveira Ramos  1   2   3
Affiliations

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases

Carolina Zinterl et al. J Multidiscip Healthc. .

Abstract

Background: Systemic autoinflammatory diseases (SAID) are characterized by inappropriate activation of the innate immune system and include not only monogenic periodic fever syndromes but also multifactorial conditions. As SAID are rare and represent a diagnostic challenge, a multidisciplinary approach is important to ensure successful diagnosis and adequate follow-up of these patients.

Objective: To describe the organization of our multidisciplinary SAID clinic and to characterize our clinical experience, highlighting the benefits of multidisciplinary team management.

Methods: Our SAID clinic takes place monthly and is managed by pediatric rheumatologists closely collaborating with pediatricians specialized in infectious diseases and immunodeficiencies and one medical geneticist. Patients' data are systematically incorporated in the Rheumatic Diseases Portuguese Register (Reuma.pt). Biological samples are stored in a biobank. We describe our clinical experience based on SAID patients registered into Reuma.pt/SAID between July 2011 and June 2020.

Results: We have registered 176 patients, with a median age of disease onset of 3.1 ± 4.4 years and median age at disease diagnosis of 4.7 ± 4.0 years. Most patients were diagnosed with periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA) (n=133), 20 with undefined SAID (uSAID) and 13 with monogenic SAID, including familial Mediterranean fever (FMF) (n=5), tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (n=1), cryopyrin-associated periodic disease (CAPS) (n=1), and hyperimmunoglobulin D syndrome/mevalonate kinase deficiency (HIDS/MKD) (n=2). A genetic test was performed in 31 patients (18%), and in 26% of these a mutation responsible for the phenotype was found. Thirty-four patients (19%) achieved remission.

Conclusion: FMF was the most common monogenic SAID and the percentage of patients with an identified causal mutation was low. A structured electronic clinical record coupled with a biobank and a multidisciplinary approach are crucial to ensure successful diagnosis and adequate follow-up of these patients.

Keywords: pediatrics; rheumatology; systemic autoinflammatory syndromes.

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Conflict of interest statement

Dr Carolina Zinterl reports grants from Novartis, during the conduct of the study. Prof. Dr. Patrícia Costa-Reis reports personal fees from Kyowa Kirin, outside the submitted work. The authors report no other conflicts of interest in this work. The abstract of this paper was presented at the 23rd Portuguese Rheumatology Congress as a poster presentation with interim findings. The poster’s abstract was published in “Poster Abstracts” in Acta reumatologica portuguesa: https://www.arprheumatology.com/archive_detail.php?id=237.38 This project had the financial contribution of Novartis.

Figures

Figure 1
Figure 1
Diagnoses of adult and pediatric patients with SAID followed at the CHLN-SAID clinic.
See this image and copyright information in PMC

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References

    1. Thomas KT, Feder JHM, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr. 1999;135(1):15–21. doi:10.1016/S0022-3476(99)70321-5 - DOI - PubMed
    1. Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell. 2010;140(6):784–790. doi:10.1016/j.cell.2010.03.002 - DOI - PMC - PubMed
    1. Russo RA, Brogan PA. Monogenic autoinflammatory diseases. Rheumatology. 2014;53(11):1927–1939. doi:10.1093/rheumatology/keu170 - DOI - PubMed
    1. Toplak N, Frenkel J, Ozen S, et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis. 2012;71(7):1177–1182. doi:10.1136/annrheumdis-2011-200549 - DOI - PubMed
    1. Rowczenio DM, Lachmann HJ. How to prescribe a genetic test for the diagnosis of autoinflammatory diseases? La Presse Méd. 2019;48(1):e49–e59. doi:10.1016/j.lpm.2018.08.015 - DOI - PubMed