Ear inflammation of the pinna that recursis an immune-mediated condition associated with inflammation in cartilaginous structures and other tissues throughout the body and is called relapsing polychondritis (RPC) .Common sites are the ears, nose, eyes, joints, and respiratory tract. Other organs that can be involved include the vasculature, inner ear, central nervous system, and skin. A high percentage of patients with a genetic disease described in 2020 called VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome have a clinical diagnosis of RPC. The clinical features and course of RPC vary considerably from patient to patient. Subtle, early manifestations often remain unrecognized for prolonged periods. As a result, the diagnosis is frequently obtained only after the emergence of characteristic manifestations such as auricular inflammation, saddle-nose deformity, or other features of cartilage destruction. No known clinical or laboratory measures predict the expression of specific disease manifestations or the overall disease course. [1]
Diagnosis
Biopsy
Lab
Laboratory abnormalities with relapsing polychondritis (RPC) are nonspecific. Some of these changes reflect the presence of active inflammatory disease and may be helpful adjuncts in evaluation and management. In some instances, patients with RPC can have normal inflammatory markers despite objective findings of inflammation on physical exam:
Elevations in the erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP) level and a modest leukocytosis or thrombocytosis are associated with disease activity.
Anemia is usually present at some point during the course of illnessn and is typically normocytic and normochromic, consistent with anemia of chronic disease
Eosinophilia occurs in about 10 percent of patients.
Nonspecific autoantibodies
Serologic studies have revealed antinuclear antibodies (ANA) in percentages varying from 22 to 66 percent of RPC patients. A homogeneous or speckled pattern is usually evident by immunofluorescence, but the specificity of the responsible antigens is unknown. Antibodies to native deoxyribonucleic acid (DNA), Sm, U1 RNP, and Ro/La are not characteristic of RPC itself.
rheumatoid factor (in 16 percent of cases
a false positive serologic test for syphilis
antiphospholipid antibodies (positive in one of eight reported cases, manifested clinically by acute thrombosis) can also occur
Antineutrophil cytoplasmic antibodies (ANCA)
ANCA is prevalent in granulomatosis with polyangiitis (GPA), which shares a number of features with RPC such as laryngotracheal bronchial disease, necrotizing glomerulonephritis, episcleritis, saddle nose deformity, and auricular chondritis. The presence of an ANCA in this setting suggests the diagnosis of GPA, not RPC. Fourteen percent of patients with RPC have clinically evident vasculitis that is not GPA or MPA. Vasculitis is likely operative in the pathogenesis of specific organ system involvement in many RPC patients. There is discordance in the literature regarding the role of ANCA in the vasculitis of RPC. One report found low titer ANCA (as assessed by immunofluorescence) in 8 of 23 patients with RPC. Three had a C-ANCA pattern (diffuse granular cytoplasmic staining), and five had P-ANCA reactivity (perinuclear staining). The specificity of these antibodies was examined by ELISA. None of the C-ANCA responders were positive for serine proteinase 3, the dominant antigen responsible for this pattern in GPA. Four of the five positive P-ANCA patients were reactive with myeloperoxidase, the antigen associated with P-ANCA in GPA and microscopic polyarteritis. A subsequent study demonstrated ANCA reactivity in three of six patients in whom RPC appeared in conjunction with a systemic necrotizing form of vasculitis (GPA or microscopic polyarteritis) Thus, although ANCA may be detected in patients thought to have RPC, when present, its relevance and relationship to associated vasculitis require further analysis.
Other studies
Total hemolytic complement and C3 and C4 levels are usually normal in RPC. Occasional elevations in complement levels probably reflect an acute phase response. The prevalence and significance of circulating immune complexes have not been systematically evaluated. Using varying methodologies, immune complexes have been identified in 15 of 35 reported cases (43 percent).
Cryoglobulins appear to occur less frequently, being detected in 7 of 32 cases (22 percent) compiled from the literature. Transient increases may occur in immunoglobulin G (IgG), IgA, or IgE levels. Serum protein electrophoresis may show nonspecific abnormalities, such as a decrease in albumin and elevations in the alpha-1 and gamma globulin regions.
An adequate laboratory gauge defining active cartilage catabolism and, thus, a means of monitoring disease activity are lacking in RPC. Studies have investigated the feasibility of measurement of serum content of noncollagenous cartilage-specific adhesive glycoproteins and serum matrillin-1 fragments to reflect active inflammation. Urine levels of a type II collagen specific neoepitope generated by specific interstitial collagenase CII cleavage are being investigated, but the clinical usefulness is uncertain. Serum cartilage oligomeric matrix protein (COMP) is also being investigated as a potential biomarker of disease activity. Collagen II antibodies can be positive in patients with RPC, but are not specific to this disorder.
Cerebrospinal fluid may be normal in the presence of clinical evidence of central nervous system involvement, though there is usually a pleocytosis with a predominance of lymphocytes, a protein content that is either normal or slightly elevated, and a normal glucose concentration. [1]
Treatment
Prednisone
Dapsone
Azathioprine
Methotrexate
Actemra (tocilizumab)
References
[1] M Ferrada. Clinical manifestations of relapsing polychondritis. Uptodate.
