The following is a summary of “Unveiling the clinical spectrum of relapsing polychondritis: insights into its pathogenesis, novel monogenic causes, and therapeutic strategies,” published in the April 2024 issue of Rheumatology by Bica et al.
Relapsing polychondritis, a rare multisystem disorder affecting cartilaginous and proteoglycan-rich tissues, presents a diagnostic challenge primarily characterized by recurrent bouts of cartilage inflammation, notably in the ears, nose, or respiratory tract, with occasional systemic involvement. Manifestations range from episodic auricular and nasal chondritis, causing significant pain and deformity, to potentially life-threatening complications such as lower airway collapse.
Despite its clinical significance, the rarity of relapsing polychondritis contributes to a lack of awareness and diagnostic delays. In 2020, the medical community witnessed the unveiling of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a groundbreaking autoinflammatory disorder associated with somatic mutations in methionine-41 of UBA1, a pivotal enzyme in ubiquitylation initiation. Notably, VEXAS syndrome bridges seemingly disparate conditions, linking systemic inflammatory disorders like relapsing chondritis, Sweet’s syndrome, and neutrophilic dermatosis with hematologic dyscrasias such as myelodysplastic syndrome and multiple myeloma.
Thus, this review critically examines the current literature on relapsing polychondritis and VEXAS syndrome, shedding light on their clinical presentations, pathogenic mechanisms, and therapeutic considerations to enhance understanding and facilitate optimal management of these complex disorders.
Source: advancesinrheumatology.biomedcentral.com/articles/10.1186/s42358-024-00365-z