Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

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• 作者：José ; Herná ; ndez-Rodrí ; guez^a ; ^b ; ^{jhernan@clinic.ub.es" class="auth_mail" title="E-mail the corresponding author} ; Estí ; baliz Ruí ; z-Ortiz^c ; Adrià ; Tomé ; ^a ; Gerard Espinosa^a ; Eva Gonzá ; lez-Roca^c ; Anna Mensa-Vilaró ; ^c ; Sergio Prieto-Gonzá ; lez^a ; ^b ; Georgina Espí ; gol-Frigolé ; ^a ; ^b ; Josep Mensa^d ; Francesc Cardellach^e ; Josep M. Grau^e ; Maria C. Cid^a ; ^b ; Jordi Yagü ; e^c ; Juan I. Aró ; stegui^c ; Ricard Cervera^a
• 关键词：AID ; autoinflammatory disease ; CAPS ; cryopyrin associated periodic syndromes ; CINCA ; chronic infantile neurologic ; cutaneous and articular syndrome ; FCAS ; familial cold induced autoinflammatory syndrome ; FMF ; familial Mediterranean fever ; HIDS ; hyper-immunoglobulin D syndrome and periodic fever ; MKD ; mevalonate kinase deficiency ; MWS ; Muckle&ndash ; Wells syndrome ; PFAPA ; periodic fever ; aphtous stomatitis ; pharyngitis and cervical adenitis ; TNF ; tumor necrosis factor ; TRAPS ; TNF-receptor associat
• 刊名：Autoimmunity Reviews
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：15
• 期：1
• 页码：9-15
• 全文大小：346 K

文摘

Autoinflammatory diseases (AID) are usually diagnosed during the pediatric age. However, adult-onset disease or diagnosis during adulthood has been occasionally described.

Objectives

To assess the clinical and genetic characteristics of adult patients diagnosed with an AID in an adult referral center for AID.

Methods

We retrospectively evaluated clinical and genetic features of adult patients (≥ 16 years) diagnosed with an AID or referred after AID diagnosis to the Clinical Unit of AID, at the Department of Autoimmune Diseases, Hospital Clínic of Barcelona, from 2008 to 2014.

Results

During the study period, a genetic study for suspected AID was requested to 90 patients at the Department of Autoimmune Diseases. A final diagnosis of monogenic AID was achieved in 17 patients (19% of patients tested). Five additional cases were diagnosed with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and 10 patients with AID were referred from other adult departments. Finally, a total of 32 patients with AID were finally diagnosed or monitored in our Clinical Unit. These included 12 (37.5%) familial Mediterranean fever, 6 (18.8%) tumour necrosis factor-receptor associated periodic syndrome, 8 (25%) cryopirin-associated periodic syndromes (Muckle–Wells syndrome [MWS] or overlap familial cold-associated periodic syndrome/MWS), 1 (3.1%) mevalonate kinase deficiency, and 5 (15.6%) PFAPA. Clinical evidence of disease-onset during childhood and adulthood was observed in 15 (47%) and 17 (53%) patients, respectively. Overall, the final diagnosis was obtained after a delay of a mean of 12 years (range 0–47 years). Compared to children, adult patients with AID in our series presented more frequently with non-severe manifestations and none of them developed amyloidosis during follow-up. Adult patients also carried higher proportion of low-penetrance mutations or polymorphisms and all genetic variants were presented in heterozygosis or as heterozygous compounds.

Conclusions

Adult disease-onset or delayed diagnosis of AID during adulthood is associated with milder disease phenotypes, and seem to be driven by mild genotypes, with predominant presence of low-penetrance mutations or polymorphisms.