Malignancies and Vasculitides Associated with Relapsing Polychondritis
Relapsing polychondritis is associated with hematologic malignancies—particularly myelodysplastic syndrome and lymphomas—as well as ANCA-associated vasculitides, with large vessel arteritis being a rare but prognostically significant complication.
Associated Malignancies
Hematologic Malignancies (Most Common)
Myelodysplastic syndrome (MDS) is the most frequently associated malignancy with relapsing polychondritis 1, 2. This association is particularly important because:
- MDS occurs more frequently with relapsing polychondritis than with other vasculitides 1
- The association is especially common in men over 50 years of age 3
- This combination may represent a distinct phenotype with worse prognosis 3
- Screen for MDS when cutaneous and mucosal manifestations coexist with polychondritis 1
Lymphomas
Several types of lymphoma have been documented in association with relapsing polychondritis 2:
- Non-Hodgkin lymphoma (including splenic marginal zone B-cell lymphoma) 4, 2
- Hodgkin lymphoma 2
- Orbital mucosa-associated lymphoid tissue (MALT) lymphoma 2
The temporal relationship varies: polychondritis may precede lymphoma, occur simultaneously, or develop after lymphoma diagnosis and treatment 2. Some cases suggest polychondritis may represent a paraneoplastic phenomenon of underlying hematologic malignancies 2.
VEXAS Syndrome Consideration
In older adults (particularly men >50 years) presenting with relapsing polychondritis features, consider VEXAS syndrome 5, 6. Key red flags include:
- Macrocytic anemia and unexplained cytopenias
- Refractory inflammation despite treatment
- Bone marrow showing cytoplasmic vacuoles in myeloid precursors
- UBA1 gene mutation on sequencing 5
This is critical because VEXAS mimics relapsing polychondritis but requires different management approaches 6.
Associated Vasculitides
ANCA-Associated Vasculitides
Any of the ANCA-associated vasculitides can accompany relapsing polychondritis, though this is rare 7:
- Eosinophilic granulomatosis with polyangiitis (EGPA) - documented coexistence 7
- Granulomatosis with polyangiitis (GPA)
- Microscopic polyangiitis (MPA)
Large Vessel Arteritis
Large vessel arteritis is a rare but prognostically important association 8. Specific features include:
- Stenosis of internal carotid arteries
- Involvement of central nervous system vessels
- Negatively affects prognosis 8
- Requires early detection and aggressive treatment 8
Clinical pearl: Auscultate for carotid bruits in patients with relapsing polychondritis, and consider vascular imaging (MR angiography) to detect large vessel involvement 8.
Small Vessel Vasculitis
Cutaneous vasculitis can occur as a dermatologic manifestation 1:
- Papulonodular lesions
- Mucosal aphthous lesions
- Vasculitis without leukocytoclastic features on biopsy 1
Clinical Approach to Screening
When diagnosing relapsing polychondritis, systematically evaluate for associated conditions:
- Complete blood count with differential: Look for cytopenias, macrocytosis, or eosinophilia
- Bone marrow examination: If cytopenias or macrocytosis present, especially in men >50 years 5, 3
- ANCA testing: If systemic vasculitis features present 7
- Vascular examination: Auscultate for bruits; consider imaging if large vessel involvement suspected 8
- UBA1 sequencing: In refractory cases with cytopenias and bone marrow vacuoles 5
The presence of myelodysplasia or VEXAS syndrome fundamentally changes treatment strategy and worsens prognosis 3, making early identification essential for appropriate management decisions.