Relapsing polychondritis: clinical updates and new differential diagnoses

Area of Science:

• Rheumatology
• Immunology
• Genetics

Background:

• Relapsing polychondritis (RP) is a rare systemic inflammatory condition affecting cartilaginous tissues.
• Accurate diagnosis of RP is critical for effective management and improved patient outcomes.
• Recent advancements have identified distinct RP patient clusters with varying clinical features and prognoses.

Purpose of the Study:

• To provide an updated review of relapsing polychondritis.
• To highlight newly identified patient clusters within RP.
• To discuss emerging differential diagnoses, including VEXAS syndrome and autoinflammatory diseases.

Main Methods:

• Review of recent literature on relapsing polychondritis.
• Analysis of newly identified patient clusters and their characteristics.
• Comparison with emerging differential diagnoses such as VEXAS syndrome.

Main Results:

• Identification of three distinct patient clusters in relapsing polychondritis.
• Emergence of new differential diagnoses, including vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome.
• Recognition of immune checkpoint inhibitor-related adverse events as potential mimics.

Conclusions:

• Understanding distinct RP clusters and mimickers significantly impacts clinical management.
• Prompt identification of red flags for alternative diagnoses is crucial.
• This knowledge improves follow-up and prognosis for patients with RP and related autoinflammatory syndromes.