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Relapsing polychondritis: a diagnosis not to be missed
... Inflammatory mediators activate chondrocytes, PMNs and monocytes, leading to the release of proteolytic enzymes. Immunofluorescence analysis has demonstrated the presence of immunoglobulins and complement at sites of inflammation [9,10]. ...
Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1 , the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet’s syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.
The skin, the eyes, and the ears are sense organs, which are very frequently involved in rheumatic diseases. The skin is an easily accessible organ to physical examination and biopsy. Taking into account the morphology, location, distribution, and histological characteristics of cutaneous manifestations in patients with rheumatic disorders, particular skin rashes may aid the diagnosis (e.g., butterfly rash and systemic lupus erythematosus) and/or define disease activity and prognosis (e.g., raised purpura and risk factor for lymphoma development in patients with Sjögren’s syndrome).
Objective:
To assess patient-reported symptoms and burden of disease in relapsing polychondritis (RP).
Methods:
Patients with RP completed a disease-specific online survey to identify symptoms attributed to illness. Patients were divided into subgroups based upon presence or absence of ear/nose, airway, or joint involvement. Pathway to diagnosis, treatment, and disease-related complications were assessed within each subgroup.
Results:
Data from 304 respondents were included in this analysis. Prior to diagnosis, most patients with RP went to the emergency room (54%), saw >3 physicians (54%), and had symptoms for >5 years (64%). A concomitant diagnosis of fibromyalgia and absence of ear/nose or joint involvement was associated with diagnostic delay >1 year. Common diagnoses prior to RP diagnosis included asthma in patients with airway involvement (35% vs 22%, p=0.03) and ear infection in patients with ear/nose involvement (51% vs 6%, p<0.01). Patients with joint involvement were more likely to receive a glucocorticoid-sparing agent (85% vs 13%, p<0.01). Most patients reported a major complication including disability (25%), tracheomalacia (16%) or hearing loss (34%). Patients with airway involvement reported more tracheomalacia (20% vs 4%, p<0.01). Disability (24% vs 7%, p<0.01) and hearing loss (39% vs 11%, p<0.01) were prevalent in the joint involvement subgroup.
Conclusion:
Patient-reported data in RP highlight a significant burden of disease. Patterns of organ involvement may lead to diagnostic delay and influence treatment decisions, ultimately impacting the development of disease-related complications. Timely diagnosis, standardization of treatment approaches, and prevention of disease-related complications are major unmet needs in RP. This article is protected by copyright. All rights reserved.
Organ involvement pattern suggests subgroups within relapsing polychondritis: comment on the article by Dion et al
- J Shimizu
- Y Yamano
- K Yudoh
- N. Suzuki