musculoskeletal and connective tissue disorders
Relapsing Polychondritis
Diagnosis of Relapsing Polychondritis
Clinical criteria Sometimes biopsy Diagnosis of relapsing polychondritis is established if the patient develops at least 3 of the following: Bilateral chondritis of the external ears Inflammatory polyarthritis Nasal chondritis Ocular inflammation Respiratory tract chondritis Auditory or vestibular dysfunction Biopsy of involved cartilage, most often the pinna, is helpful if clinical diagnosis is not clear-cut but is rarely required. Laboratory tests are not specific but are done when necessary to help exclude other disorders. Synovial fluid analysis reveals mild inflammatory changes that are nonspecific but help rule out an infectious process. Blood tests may show normocytic-normochromic anemia, leukocytosis, elevated erythrocyte sedimentation rate (ESR) or gamma-globulin levels, and occasionally positive rheumatoid factor, antinuclear antibodies (ANA), or, in up to 25% of patients, antineutrophil cytoplasmic antibodies (ANCA). Abnormal renal function may indicate an associated glomerulonephritis. A positive c-ANCA test (ANCA that are reactive mainly to proteinase-3) may suggest Diagnosis , which can rarely cause chondritis. The upper and lower airways should be evaluated, including complete spirometric testing and chest CT, when the diagnosis is made. Older male patients with relapsing polychondritis who develop macrocytic anemia and thrombocytopenia may have VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, a rare disorder caused by a mutation in the UBA1 gene that encodes the enzyme-1-activating enzyme (E1) involved in intracellular destruction of defective proteins. Diagnosis is confirmed by bone marrow biopsy demonstrating vacuoles in blood precursor cells. 