Written By: Page Bomar, Rami Diab, John Herion, Yael Klionsky; Wake Forest School of Medicine
Topic Overview
Relapsing polychondritis (RP) is a heterogeneous systemic inflammatory disease characterized by multisystem involvement including tracheobronchial tree, upper airways, cranial cartilaginous structures (ears and nose), eyes, blood vessels, cardiac valves, and skin. Historically, diagnosis rests on fulfillment of the McAdams criteria. In spite of its potentially fatal presentation, diagnosis is curtailed by heterogeneity of presentation especially when the disease does not necessarily present with cranial chondritis. For this reason, RP may present as a diagnostic dilemma even to the astute physician. This being the case, diagnostic delay is not uncommon and can range anywhere from 1 to 20 years potentially leaving irreversible end organ damage throughout the course of the disease. Other causes of RP-related morbidity if left undiagnosed includes tracheomalacia and subglottic stenosis which may require ICU admission as well as hearing loss and its associated disability. It has recently been demonstrated that patients with RP broadly fall into 3 phenotypic classification schemes (types 1, 2, and 3). Type I RP is characterized by high prevalence of cranial chondritis including ear chondritis and saddle-nose deformity as well as upper airway involvement including tracheomalacia and subglottic stenosis but may also have associated inner ear involvement, synovitis, and inflammatory eye disease seemingly representing the most clinically active phenotypic variant with the greatest averaged elevation in markers of systemic inflammation. Type 2 RP, on the other hand though, shares features of tracheomalacia, synovitis, and inner ear disease, has a lower prevalence of cranial chondritis including auricular and nasal involvement as well as a lower prevalence of ocular inflammation. Finally, type 3 RP is said to have no airway involvement but rather ear chondritis, inner ear involvement, and synovitis.
Implications for Patients, Providers, & Researchers
Current implications: RP is a potentially severe and debilitating disorder which if left unrecognized and/or sub optimally treated can lead to devastating consequences including disability and even death. Having not only a diagnostic classification but this most recent simplified phenotypic classification scheme can help better diagnose and treat patients who present as a diagnostic challenge.
Future implications: This classification scheme opens up avenues for further research and suggests that different RP types are likely to behave differently from a clinical standpoint and may potentially even respond differently to treatment. Furthermore, could the use of this classification scheme lead to shorted median time to diagnosis, leading us into a future where RP patients receive earlier intervention and suffer less complication from disease? We think so.
Will RP Win its First Round Match-up?
RP certainly has the ability to advance through the first round, but it’ll come down to the final buzzer. Paired against IgG4 Related Disease, we find two studies focused on the rarest of the rare diseases. Both studies find strength in setting forth clinical guidance by which we can recognize and diagnose these diseases. IgG4’s validated classification criteria places emphasis on exclusion criteria that reduce the likelihood that patients have IgG4 related disease, but also has strong inclusion criteria in addition to objective measures for making clinical diagnosis. RP finds its strength in simplifying and categorizing the variety of presentations of disease, reminding us that up to one-third of RP cases exist in patients with underlying systemic disease (vasculitis, myelodysplastic disease) and that the classic presentation of RP is less common than we may believe. The clinical observations in RP may be enough to beat the full court press from IgG4 related disease pushing them into the second round.
Could RP Win it All?
The Madness is all about the little guys taking on the powerhouses, this is no exception. While RP has the ability to make it out of the first round, a potential face off against VEXAS is daunting. The clinical implications in RP are fantastic, but limitations in defining the disease’s full clinical picture may end their run early when facing the rheum world newcomer. Looking at a potential final four match up out of the ANCA/SLE region is a scary proposition for RP, but March is for miracles.
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