Epidemiology
- White population
- Males = Females
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Mechanism: suspected autoimmune
- Target cartilagenous structures
- Type II collagen
- Types IX, XI collagen
- Matrilin-1
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Clinical presentation
- Auricle
- Erythema, pain, swelling of cartilaginous portion, sparing ear lobe
- External ear canal involvement → hearing deficit
- Nasal
- Saddle nose deformity
- Pain, stuffiness, crusting, rinorrhea, epistaxis, compromise of olfaction
- Respiratory tract
- Larynx, trachea, bronchi
- Costochondral joints
- Cogh, hoarseness, choking, dyspnea, wheezing, tenderness
- Complication: airway obstruction
- Arthritis
- Episodic, migratory, asymmetric, non-erosive oligo or polyarticular arthritis
- Sternoclavicular and sternomanubrial
- Ocular
- Any component: conjuntivitis, scleritis, corneal ulcerations, uveitis, optic neuritis
- Cutaneous
- Aphthae
- Associated with myelodysplastic syndrome
- Small vessel vasculitis
- Sweet syndrome (including lymphocytic variant)
- Presence of vasculitis or Sweet syndrome points to VEXAS
- Annular urticarial plaques
- Erythema elevatum diutinum
- Livedo reticularis
- Superficial thrombophlebitis
- Erythema nodosum
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Histology
- Chondritis (neutrophilic → lymphocytic infiltrate) → replacement of cartilage by granulation tissue and fibrosis
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Diagnosis
- histologically confirmed chondritis in two of the following three sites: auricular, nasal, laryngotracheal cartilage OR
- Chondritis in one of the aforementioned sites plus at least two other features
- Ocular inflammation
- Vestibular dysfunction
- Hearing loss
- Seronegative inflammatory arthritis
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Associations
- Other autoimmune diseases
- SLE
- Rheumatoid arthritis
- Myelodysplastic syndromes (in the context of VEXAS - vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
- MAGIC syndrome
- Mouth And Genital ulcers and Inflamed Cartilage
- Relapsing polychondritis + Behçet disease
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Complications
- Cardiovascular
- Ascending aortitis, valvular dysfunction, pericarditis, conduction system abnormalities, myocarditis
- Renal
- Glomerulonephritis, glomerulosclerosis, tubulointerstitial disease
- Neurologic
- Cranial nerve palsies, vasculitis of the central and peripheral nervous system
- Deep asseptic abscesses
- Audiovestibular damage
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Abordagem
- Avaliar envolvimento sistemico
- PET
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Tratamento
- Prednisone 0,5-1mg/kg/day
- higher doses if visceral involvement
- NSAIDs
- Colchicine
- Dapsone
- Hydroxychloroquine
- Immunossupressive agents
- MTX
- Cyclosporine
- Azathioprine
- Cyclophosphamide
- MMF
- Anti-IL-6R (tocilizumab)
- TNF inhibitors (adalimumab, infliximab)
- Rituximab
- Abatacept
- IL-1R (anakinra)