Abstract
Behçet’s disease (BD) is a polygenic condition with a complex immunopathogenetic background and challenging diagnostic and therapeutic concepts. Advances in genomic medicine have provided intriguing insights into disease pathogenesis over the last decade, especially into monogenic mimics of BD. Although a rare condition, paediatric BD should be considered an important differential diagnosis, especially in cases with similar phenotypes. Emerging reports of monogenic mimics have indicated the importance of genetic testing, particularly for those with early-onset, atypical features and familial aggregation. Treatment options ought to be evaluated in a multidisciplinary setting, given the complexity and diverse organ involvement. Owing to the rarity of the condition, there is a paucity of paediatric trials; thus, international collaboration is warranted to provide consensus recommendations for the management of children and young people. Herein, we summarise the current knowledge of the clinical presentation, immunopathogenetic associations and disease mechanisms in patients with paediatric BD and BD-related phenotypes, with particular emphasis on recently identified monogenic mimics.
Highlights
Behçet’s disease (BD), initially described by Hulusi Behçet, is a multisystem inflammatory vasculitis of unknown aetiology with the clinical triad of aphthous stomatitis, genital ulceration and uveitis [1]
A wide variety of final diagnoses involving A20 haploinsufficiency, MEFV mutations, chronic granulomatous disease and other monogenic immunodeficiencies were reached in their cohort, leading the authors to conclude that monogenic mimics should always be considered in the workup of paediatric BD
Controversy regarding the classification of BD under SpA has arisen for two main reasons: firstly, there may be a common immunopathological pathway involved in BD, ankylosing spondylitis (AS) and psoriatic arthritis (PsA), such as IL-10, IL-17 and IL-23; secondly, the acne–arthritis–enthesopathy cluster of BD is associated with SpA-related symptoms [14]
Summary
Behçet’s disease (BD), initially described by Hulusi Behçet, is a multisystem inflammatory vasculitis of unknown aetiology with the clinical triad of aphthous stomatitis, genital ulceration and uveitis [1]. BD is characterised by exacerbations and remissions; disease onset is generally insidious, with the slow accrual of effects on different systems over months or years, and delayed diagnosis continues to be a major concern [7]. Given the rarity of the disease, the lack of laboratory diagnostic tests and the high frequency of non-specific features such as headaches, arthralgia and abdominal pain in children, BD diagnosis fundamentally depends on clinical judgement [8,9]. BD is considered a single disease entity, clinical features at presentation may broadly vary depending on gender, geographical area and age of onset [10,11]. In light of the expanding knowledge on BD immunopathogenesis and recent advances in genomics, we provide a critical analysis of the literature with an emphasis on aetiopathogenesis, genetic background, BD mimics and clinical evidence for the current pharmacological treatments available for paediatric BD
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