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Relapsing Polychondritis

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Relapsing Polychondritis Disclosure statement Relapsing Collaborative research agreement with Polychondritis Novo Nordisk Jane Hoyt Buckner, MD Benaroya Research Institute Virginia Mason Medical Center Seattle WA 11/6/2011 Jane Hoyt Buckner 1 Topics of Discussion What is RP? Relapsing Polychondritis is an inflammatory disease of the hyaline cartilage Spectrum of disease in RP Hallmarks of the disease- inflammation of cartilage Diagnosis involving: Pathogenic mechanisms of disease • Auricular • Management Nasal • Costochondral Case Studies • Respiratory Tract • Joints Lahmer et al Autoimmunity Reviews (2010) 540–546 What is RP? Beyond Chrondritis Diagnostic Criteria Inflammation of structural component of end Clinical Manifestations organs: McAdam’s Criteria Bilateral auriclar chondritis require: 3 clinical Nonerosive, seronegative inflammatory polyarthritis manifestations, Nasal chondritis • Ocular with biopsy Ocular inflammation • Vasculopathy confirmation unless the Respiratory tract chondritis • Vasculitis diagnosis is Cochlear and /or vestibular dysfunction • Nephritis clinically obvious. Pathology • Encephalitis Cartilage biopsy with histologic findings compatible with relapsing polychondritis. Ref. Medicine 55:193, 1976 Lahmer et al Autoimmunity Reviews (2010) 540–546 Relapsing Polychondritis 1 Epidemiology Auricular Chondritis Frequency in the population Over 550 cases reported Inflammation of the external ear is the most common manifestation of 3.5 cases/million (Rochester, Minnesota) RP Age 83% of patients mean at onset 40-50 Erythema, tenderness and swelling Ranging from 16-90 present for days-weeks Gender Sparing of the ear lobe is typically F:M=1:1 found BRI RP registry Thickening and or drooping of ear 14 patients/3 million King County lobe may result from a flare of RP. 178 patients participating from the United States. Auricular Chondritis Clinical Manifestations Audiovestibular Symptoms: Differential diagnosis • Cellulitis . Tinnitus, • Dermatitis . vertigo • Trauma . hearing loss. • Frostbite Outcome: • Infectious perichondritis (TB,syphilis, leprosy, fungal) . Hearing loss in 30% • Chondrodermatitis nodularis . Vestibular dysfunction in >15% Nasal Chondritis Nasal Chondritis Epidemiology: Differential Diagnosis 38% have symptoms at dx Trauma 48% will develop symptoms Infectious (Syphilis, TB, leprosy, Symptoms: fungal) Tenderness Erythema Granulomatous diseases Epistaxis Wegener’s Findings: Midline Granuloma • Erythema/ tenderness over the bridge of Lymphomatoid granulomatosis the nose. • Saddlenose deformity Hereditary chondropathy • Septal perforations Testing Check ANCA an all patients Consider CT of sinuses Relapsing Polychondritis 2 Large Airway Involvement Large Airway Involvement Epidemiology: Assessment of Disease: 21% of patients have respiratory Pulmonary function testing involvement flow volume loops 70% are female Direct visualization 54% airway involvement is first RP manifestation Larygoscopy Tracheomalacia and mixed air trapping pattern in patient with relapsing bronchoscopy polychondritis. Symptoms (in patients with airway CT scanning- (a) Transverse end-inspiratory CT scan of trachea shows normal results. involvement): (b) Transverse dynamic expiratory CT scan at a similar level demonstrates Calcification of trachea excessive collapse of the trachea, which is consistent with tracheomalacia. • Dyspnea- 64% Dynamic expiratory CT will show • Cough Outcome: tracheal collapse and air trapping • Hoarseness •Tracheomalacia/Tracheal collapse - • Stridor 48% PET Scan • Wheezing •Subglottic stenosis-26% •Focal stenosis of the bronchial tree Causes of airway obstruction: • edema, inflammation • fibrous infiltration and obstruction • Destruction of cartilage CHEST 2009; 135:1024–1030 Large Airway Involvement Vascular Complications Differential Diagnosis: • Trauma Pathology • Tramatic intubation . Cutaneous vasculitis • Sarcoid . Medium or Large vessel vasculitis • Wegener’s granulomatosis Assessment: Treatment: • Tracheostomy Echo cardiogram • Laser therapy EKG • Balloon dilitation angiogram • Airway stenting Vascular Complications Ocular Complications Episcleritis Episcleritis, scleritis Treatment Iridocyclitis 1) Medical treatment Optic neuritis 2) Aortic valve replacement Retinopathy 3) Aneurysm repair Proptosis, lid edema Outcome Scleritis . Scleromalacia Relapsing Polychondritis 3 Clinical Manifestations Clinical Manifestations Renal Arthritis Symptoms: • Microhematuria, • Proteinuria . Arthralgia • elevated creatinine . Oligo and polyarticular arthritis • hypertension . Costochondritis Biopsy: Outcome: • segmental necrotizing . Nondestructive arthritis glomerulonephritis with crescent formation, Clinical Manifestations Associated Disorders CNS Rheumatic Other • encephalitis Systemic Vasculitides Myelodysplasia • meningoencephalitis Rheumatoid Arthritis Lymphoma Sjogren’s Syndrome Leukemia • myelitis • polyneuritis Systemic Lupus Pernicious Anemia • cerebellar signs Behcet’s Disease Myasthenia Gravis Spondyloarthropathies Primary Biliary Cirrhosis Scleroderma Mixed Cryoglobulinemia Wegener’s Thyroid disease Pathologic Findings Pathogenic Mechanisms Immunologic role in RP Cellular infiltrates in the 1) Pathologic findings of inflammation. perichondrial tissues. 2) Response to immunosuppressive therapy 3) HLA associations Degeneration of the marginal chondrocytes and depletion of 4) Animal models of chondritis matrix proteoglycans. 5) In vitro evidence responses against cartilage antigens in patients. Deposition of IgG and C3 at the chondrofibrous junction. Relapsing Polychondritis 4 Animal Models of RP Pathogenic Mechanisms Evidence of Humoral Immunity in RP Animal Agent Features Reference Histologic evidence of IgG deposition in the Rat Type II Auricular chondritis, Cremer et. al. cartilage of patients. collagen Arthritis J. Exp. Med. 154;1981 (bovine) Evidence of serum IgG binding to cartilage. HLA Type II Auricular chondritis, Bradley et. al. Antibodies present against type II collagen. DQ6/8 collagen Destructive Arthritis J. Immunol. mice (bovine) 161; 1998 Antibodies detected against site specific Rat Matrilin-1 Tracheitis, Hansson et. antigens: type IX, XI collagen and matrilin-1. (bovine) Nasal chondritis al. J. Clin. Invest. 104; 1999 Management Medical Management Identify organ involvement Steroid sparing agents: • Pulmonary compromise NSAIDs • Assess Hearing . MTX Prednisone • Renal . Leflunomide • Vascular involvement Dapsone . Azathioprine Disease Activity Colchicine . Cyclophosphamide • Physical exam . Cyclosporine • Markers of inflammation Medical Management Next Steps Biologics Development of diagnostic tests. .Anti-TNFa therapies Autoantibodies .Abatacept now under study T cell specificities. .Rituximab Develop markers of disease activity. .Tocolizumab anti-IL-6 Immunologic parameters Measurement of cartilage breakdown Autologous BMT products. Relapsing Polychondritis 5 78 yo male with RP Patient who presented at age 48 with Auricular chondritis, deformity of the ears Nasal chondritis (development of saddle nose) Chostochondritis Hoarseness and SOB ( tracheo-bronchiomalacia) Vertigo Anti CII Ab + intermittently CASE STUDIES IN RP Biopsy equivocal Co-morbidities = CLL 78 yo male with 50 yo male with RP Patient who presented at age 43 with Complications : Auricular chondritis, bilateral and recurrent post-obstructive pneumonia Intermittent ocular inflammation (episcleritis) Stent placement- requiring removal Anti CII Ab - Medications: Biopsy not done Prednisone for 24 years ( now 5-10 mg daily) Family hx + parent with RA Dapsone x 2 yrs nor impact Initial response to Prednisone, taper failed MTX 15mg weekly for 20 years. MTX failure Etanercept no in remission x 5 years 30 years post diagnosis stable with significant respiratory compromise, steroid related morbidity No complications or co-morbidities 59 yo male with RP 66 yo female with RP Patient who presented at age 48 with Auricular chondritis ( resulting in floppy ears) Patient who presented at age 42 with Vertigo/ hearing loss ESR- nl Auricular chondritis, bilateral intermitteny Episcleritis CRP- elevated Nasal chondritis ANC-neg Later developed Anti-CIIab neg Episcleritis (responsive to topical steroids) Hoarseness (tracheal narrowing) Anti- CCP-neg Anti CII Ab + Nephritis with proteinuria RF-neg Biopsy not diagnostic Treated with cytoxan- with resolution of both On steroids to control disease flares (5-10 mg over 12 years) Destructive arthritis After referral to my clinic: Chronic pain and fatigue Responsive to steroids >20mg daily Pt started on MTX- stopped due to hair loss Not responsive to : anti-TNFa drugs/ rituximab/abatacept/ rituximab/ Leflunamide started- tolerated no flairs off Prednisone >3 years. tocilizumab- currently with normalization of CRP PFT, ECHO, CXR all normal no comorbidities. Co-morbidity- osteoporosis/ depression Relapsing Polychondritis 6 61 yo female with Wegener’s 61 yo female with Wegener’s granulomatosis granulomatosis Patient who presented at age 15 with a saddle nose deformity Patient who presented at age 52 to my clinic with new bilateral Age 21 (1971) she presented with hemoptysis, pulmonary auricular chondritis. infiltrates, sinus congestion and glomerular nephritis. Recurrent nephritis. Wegener’s was diagnosed and the patient was treated with Conjunctivis and corneal ulcer. cytoxan and Prednisone followed by azathioprine. Age 30 the patient devleoped subglottic stenosis requiring Diagnosis: Wegener’s
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