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Connective Tissue Diseases

Connective Tissue Diseases. UTMB Dept. of Otolaryngology Grand Rounds January 2004 Sam J. Cunningham, MD, PhD Francis B. Quinn, Jr., MD. Connective Tissue Diseases. Perivascular collagen deposition=Collagen Vascular Diseases Autoimmune diseases-not the primary cause

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Connective Tissue Diseases

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  1. Connective Tissue Diseases UTMB Dept. of Otolaryngology Grand Rounds January 2004 Sam J. Cunningham, MD, PhDFrancis B. Quinn, Jr., MD

  2. Connective Tissue Diseases • Perivascular collagen deposition=Collagen Vascular Diseases • Autoimmune diseases-not the primary cause • Exact cause remains obscure • Different diseases associated with specific autoantibodies

  3. Connective Tissue Diseases DiseaseAutoantibody Systemic Lupus Erythematosus Anti-dsDNA, Anti-SM Rheumatoid Arthritis RF, Anti-RA33 Sjogrens Syndrome Anti-Ro(SS-A),Anti-La(SS-B) Systemic Sclerosis Anti-Scl-70, Anti-centromere Polymyositis/Dermatomyositis Anti-Jo-1 Mixed Connective Tissue Disease Anti-U1-RNP Wegener’s Granulomatosus c-ANCA

  4. Connective Tissue Diseases • Histopathology: Connective tissue and blood vessel inflammation and abundant fibrinoid deposits • Varying tissue distribution and pattern of organ involvement • Symptoms nonspecific and overlapping • Difficult to diagnose

  5. Systemic Lupus Erythematosus • General • autoimmune multisystem disease • prevalence 1 in 2,000 • 9 to 1; female to male (1 in 700) • peak age 15-25 • immune complex deposition • photosensitive skin eruptions, serositis, pneumonitis, myocarditis, nephritis, CNS involvement

  6. Systemic Lupus Erythematosus • specific labs - native(Double stranded) DNA, SM antigen • lupus like reaction • LE cells

  7. Systemic Lupus Erythematosus: Diagnostic Criteria

  8. Systemic Lupus Erythematosus • Head and Neck Manifestations • Malar rash first sign in 50% • Erythematous maculopapular eruption after sun exposure • Oral ulceration • 3-5% nasal septum perforation • Acute parotid enlargement 10% • Xerostomia 15% • Larynx and trachea involvement uncommon -TVC thickening and paralysis, cricoarytenoid arthritis, subglottic stenosis

  9. Systemic Lupus Erythematosus

  10. Systemic Lupus Erythematosus • Discoid Lupus: Cutaneous manifestations • Scar upon healing

  11. Systemic Lupus Erythematosus • Treatment: Rheumatologist involvement • Avoidance of sun • Use of sunscreens • NSAIDS, topical and low dose steroids, antimalarials • Low dose methotrexate instead of steroids • Azothioprine, cyclophosphamide, high dose steroids for serious visceral involvement • Symptomatic: Salivary substitutes, Klack’s solution, postprandial rinses of 1: 1 H2O2:H2O

  12. Rheumatoid Arthritis • 1% of the population • Women affected 2-3 X more than men • Age of onset is 40-50 • Juvenile form

  13. Rheumatoid Arthritis • Inflammation of the synovial tissue (lymphocytic) with synovial proliferation • Symmetric involvement of peripheral joints, hands, feet and wrists • Occasional systemic effects:vasculitis, visceral nodules, Sjogren syndrome, pulmonary fibrosis • Anti-RA-33 autoantibodies • RA associated nuclear antigen (RANA)

  14. Rheumatoid Arthritis: Diagnostic Criteria 1. Morning stiffness (>1h) 2. Swelling of three or more joints 3. Swelling of hand joints (prox interphalangeal, metacarpophalyngeal, or wrist) 4. Symmetric joint swelling 5. Subcutaneous nodules 6. Serum Rheumatoid Factor 7. Radiographic evidence of erosions or periarticular osteopenia in hand or wrists Criteria 1-4 must have been present continuously for 6 weeks or longer and must be observed by a physician. A diagnosis of rheumatoid arthritis requires that 4 of the 7 criteria are fulfilled.

  15. Rheumatoid Arthritis

  16. Rheumatoid Arthritis may involve the TMJ. 55% Affected 70% with radiographic evidence of TMJ involvement Juvenile form may lead to retrognathia

  17. Rheumatoid Arthritis • Head and Neck Manifestations • cricoarytenoid joint • most common cause of cricoarytenoid arthritis • 30% patients hoarse • 86% pathologic involvement • exertional dyspnea, ear pain, globus • hoarseness • rheumatoid nodules, recurrent nerve involvement • stridor • local/systemic steroids • poss. Tracheotomy

  18. Rheumatoid Arthritis • Head and Neck Manifestations • CHL • ossicular chain involvement • flaccid TM • SNHL • unexplained • assoc. with rheumatoid nodules • cervical spine • subluxation

  19. Rheumatoid Arthritis • Treatment • physical therapy, daily exercise, splinting, joint protection • salicylates, NSAIDS, gold salts, penicillamine, hydroxychloroquine, immunosuppressive agents • Cyclosporin-A • prognosis • 10-15 yrs of disease • 50% fully employed • 10% incapacitated • 10-20% remission

  20. Sjogren Syndrome • Chronic disorder characterized by immune-mediated destruction of exocrine glands • Primary vs Secondary: • Primary is diagnosis of exclusion • Secondary refers to the sicca complex accompanying any of the connective tissue diseases (xerophthalmia, keratoconjuntivitis, xerostomia with/without salivary gland enlargement)

  21. Sjogren Syndrome • 1% of the population and in 10-15% of RA patients • 9:1 female:male preponderance • Age of onset 40-60 years • Associated with a 33-44 times increased risk of lymphoma.

  22. Sjogren Syndrome • May affect the skin, external genitalia, GI tract, kidneys, and lungs • Minor salivary gland biopsy demonstrates lymphocytic infiltration. • Parotid biopsy more sensitive and specific • Associated with Sjogren Syndrome A (RO-SS-A) in 60% and Sjogren Syndrome B (LA-SS-B) in 30%

  23. Sjogren Syndrome Diagnostic Criteria 1. Dry eyes (>3mos), sensation of sand or gravel in eyes, or use of tear substitutes>3x per day 2. Dry mouth (>3mos), recurrent or persistent swollen salivary glands, or frequent drinking of liquids to aid in swallowing dry foods. 3. Schirmer-I test (<5mm in 5 min) or Rose Bengal score >4. 4. >50 mononuclear cells/4mm2 glandular tissue 5. Abnormal salivary scintigraphy or parotid sialography or unstimulated salivary flow <1.5ml in 15 min 6. Presence of anti-Ro/SS-A, anti-La/SS-b, antinuclear antibodies, or rheumatoid factor.

  24. Sjogren Syndrome • 80% experience xerostomia • Difficulty chewing, dysphagia, taste changes, fissures of tongue and lips, increased dental caries and oral candidiasis • Salivary gland enlargement • Sicca syndrome

  25. Sjogren Syndrome

  26. Sjogren Syndrome: Treatment • Symptomatic: saliva substitutes, artificial tears, increased oral fluid intake • Avoid decongestants, antihistamines, anticholinergics, diuretics • Pilocarpine, antifungals, close dental follow-up, surveillance for malignancy

  27. Scleroderma • Also known as systemic sclerosis • Sclerotic skin changes often accompanied by multisystem disease. • Progressive fibrosis from increased collagen deposition in intersitium and intima of small arteries and connective tissues • May be benign cutaneous involvement or aggressive systemic disease.

  28. Scleroderma • 4-12 new cases per million per year • 3-4:1 female preponderance • Average age of onset between 3rd and 5th decade

  29. Scleroderma Diagnostic Criteria • One major criterion: scleromatous skin changes proximal to the metacarpal-phalangeal joints • Two of three minor criteria: sclerodactyly, digital pitting scars, bi-basilar pulmonary fibrosis on CXR

  30. Scleroderma presentation • Raynaud’s phenomenon • edema fingers and hands • skin thickening visceral manifestations • GI tract, lung, heart, kidneys, thyroid arthralgias and muscle weakness often

  31. Scleroderma: Head and Neck Manifestations • Dysphagia most common initial complaint: • 80% exhibit pathology in distal 2/3 of esophagus on BAS: decreased or absent peristalsis, hiatal hernia, reflux • Tight, thin lips with vertical perioral furrows • Trismus 2nd to tight skin, not TMJ path • Xerostomia, xerophthalmia, • Laryngeal involvement w hoarseness • Transition zone around dental roots • Considered pathognomonic by some

  32. Scleroderma

  33. Scleroderma

  34. Polymyositis and Dermatomyositis • Proximal muscle weakness and nonsuppurative inflammation of skeletal muscle • 5 cases per million per year • 2:1 female:male • Age 40-60, but a pediatric variant of 5-15 year old

  35. Polymyositis/Dermatomyositis Diagnosis • Proximal muscle weakness • Elevated serum creatinine kinase • Myopathic changes on electromyography • Muscle biopsy with evidence of lymphocytic inflammation Dx is definitive with all four, probable with three, and possible with two. Rash accompanies these in dermatomyositis

  36. Dermatomyositis

  37. Polymyositis: Head and Neck Manifestations • Difficulty phonating and deglutition 2nd to affected tongue musculature • Nasal regurg 2nd to affected pharyngeal and palatal musculature • 30% with dysphagia 2nd to involvement of upper esophagus, cricopharyngeus, pharynx, and superior constrictors • Aspiration pneumonia

  38. Polymyositis and Dermatomyositis:Treatment • Steroids for symptomatic patients • Methotrexate and immunosuppressants for non-responders

  39. Relapsing Polychondritis • General • recurring inflammation cartilaginous structures • eventual fibrosis • prevalence • F>M • 25-45 • equal racial • can affect any cartilaginous structure • including heart valves and large arteries

  40. Polychondritis • General • diagnostic criteria • recurrent chondritis of the auricles • nonerosive inflammatory polyarthritis • chondritis of the nasal cartilages • inflammation of ocular structures • chondritis of laryngeal or tracheal cartilages, • cochlear (SNHL, tinnitus) vestibular (vertigo) damage

  41. Polychondritis • General • labs • ESR, leukocytosis, anemia • histology • loss of basophilic staining of cartilage • perichondral inflammation • destruction fibrotic replacement

  42. Polychondritis • Head and Neck Manifestations • auricular chondritis, nonerosive arthritis most common • sudden onset erythema, pain, • spares EAC • feature presentation in 33% • present in 90% • occasional LAD • resolution 5-10 days with or without

  43. Polychondritis • serous otitis, SNHL, 49% inner ear symptoms • nasal chondritis • develops in 75% • not necessarily coincides with auricular

  44. Polychondritis • laryngeal involvement • nonproductive cough • hoarseness • stridor • 53% airway involvement

  45. Relapsing Polychondritis • Treatment • salicylates, ibuprofen-symptomatic relief • steroids for life threatening • dapsone (anti-leprosy) reduces lysozymes

  46. Mixed Connective Tissue Disease • Coexisting features of SLE, scleroderma, and polymyositis • High titers of Anti-U1RNP • 80% female, 30-60 years • Head and neck: combination of manifestations of the above. • Treat with steroids

  47. Vasculitides The vasculitides are a group of diseases characterized by non infectious necrotizing vasculitis and resultant ischemia.

  48. Polyarteritis Nodosa • Prototype of vasculitis • Less than 1/100000 per year • Males = Females • 50-60 years of age • Involves small and medium arteries • May result from Hep B infection (30%) • GI, hepatobiliary, renal, pancreas and skeletal muscles

  49. Polyarteritis Nodosa Head and neck symptoms primarily involve the ear and include SNHL and vestibular disturbance. Proposed mechanism is thromboembolic occlusion of inner ear arteries May also see CN palsies

  50. Churg-Strauss Syndrome • Also called angiitis granulomatosis • Consists of small vessel vasculitis, extra vascular granulomas, and hypereosinophilia. • In patients with preexisting asthma and allergic rhinitis

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