Aggiornamento
Malattia di Behçet: una sfida per il pediatra
Behçet’s disease
Laura Levantino, Serena Pastore, Federica Corona, Loredana Lepore, Alberto Tommasini
Clinica Pediatrica, IRCCS Materno-Infantile “Burlo Garofolo”, Università di Trieste
Maggio 2022 - pagg. 289 -297 | DOI: 10.53126/MEB41289
Abstract
Behçet’s disease (BD) is a rare chronic inflammatory condition associated with variable-vessel vasculitis, systemic involvement and relapsing course. It is characterized by a wide clinical heterogeneity, presenting with mucocutaneous, ocular, articular, gastrointestinal, neurological and vascular manifestations in the long term, with a high risk of delay in diagnosis: therefore, its morbidity and mortality are significant. The definition of BD probably encompasses a range of disorders with unclear pathogenesis, overlapping autoinflammatory and autoimmune pathological mechanisms. Diagnosis is clinical and multiple classification criteria have been developed. The progressive knowledge about its molecular basis, especially in the so-called monogenic mimics of BD, resulted in an improvement in the disease therapy, with an optimization of the use of conventional immunosuppressive agents and the introduction of new biologic drugs. BD occurs in childhood in up to 20% of cases: paediatric BD differs from adult BD in frequency and severity of clinical findings and, above all, for a frequent incomplete clinical picture, making the recognition and management of the disease a challenge. The new paediatric classification criteria are aimed to allow an early diagnosis and a proper therapy.
Riassunto
La malattia di Behçet (MB) è una rara patologia infiammatoria cronica multisistemica, che può colpire vasi di qualsiasi tipo e calibro. Si tratta di una condizione molto eterogenea che associa caratteristiche autoinfiammatorie a caratteristiche autoimmuni. Può associarsi a manifestazioni mucocutanee, oculari, articolari, gastrointestinali, neurologiche e vascolari, secondo una sequenza imprevedibile e spesso in un lungo arco temporale, tanto da rendere la diagnosi una sfida per il pediatra. Va sospettata in tutti i casi di aftosi orale ricorrente di tipo major e a esordio precoce, specie se associata a segni di aftosi genitale o perineale e a una positività degli indici di flogosi; anche in assenza di aftosi, bisognerà pensarci nei casi di vasculite venosa o arteriosa con segni di patologia infiammatoria sistemica. Le conoscenze progressive sui meccanismi patogenetici della malattia (inclusa la recente identificazione di difetti immunologici monogenici ascrivibili allo spettro della MB) hanno portato a notevoli miglioramenti sul versante terapeutico, diventando fondamentale una diagnosi precoce.
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Corrispondenza: laura.levantino88@libero.it