Connective Tissue Diseases

Connective Tissue Diseases

Connective Tissue Diseases FARHAD SALEHZADEH MD. ARUMS 2015 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 Connective Tissue Diseases Disease

Autoantibody 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 Wegeners Granulomatosus c-ANCA 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 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

Systemic Lupus Erythematosus specific labs - native(Double stranded) DNA, SM antigen lupus like reaction LE cells Systemic Lupus Erythematosus: Diagnostic Criteria

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, cricoarytenoidarthritis, subglottic stenosis Systemic Lupus Erythematosus Systemic Lupus Erythematosus Discoid Lupus: Cutaneous manifestations Scar upon healing

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, Klacks solution, postprandial rinses of 1: 1 Rheumatoid Arthritis 1% of the population Women affected 2-3 X more than men Age of onset is 40-50 Juvenile form

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) 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. Rheumatoid Arthritis Rheumatoid Arthritis may .involve the TMJ

Affected 55% with radiographic 70% evidence of TMJ involvement Juvenile form may lead to retrognathia 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 Rheumatoid Arthritis Head and Neck Manifestations CHL ossicular chain involvement

flaccid TM SNHL unexplained assoc. with rheumatoid nodules cervical spine

subluxation 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 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)

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.

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-SSA) in 60% and Sjogren Syndrome B (LA-SS-B) in 30%

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. 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 Sjogren Syndrome Sjogren Syndrome: Treatment Symptomatic: saliva substitutes, artificial tears, increased oral fluid intake

Avoid decongestants, antihistamines, anticholinergics, diuretics Pilocarpine, antifungals, close dental followup, surveillance for malignancy 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. Scleroderma 4-12 new cases per million per year 3-4:1 female preponderance Average age of onset between 3rd and 5th

decade Scleroderma Diagnostic Criteria One major criterion: scleromatous skin changes proximal to the metacarpalphalangeal joints Two of three minor criteria: sclerodactyly, digital pitting scars, bi-basilar pulmonary

fibrosis on CXR Scleroderma presentation Raynauds phenomenon edema fingers and hands skin thickening visceral manifestations

GI tract, lung, heart, kidneys, thyroid arthralgias and muscle weakness often 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 Scleroderma Scleroderma 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 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 Dermatomyositis

Polymyositis: Head and Neck Manifestations Difficulty phonating and deglutition 2 nd 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

Polymyositis and Dermatomyositis:Treatment Steroids for symptomatic patients Methotrexate and immunosuppressants for non-responders 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 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 Polychondritis General labs ESR, leukocytosis, anemia

histology loss of basophilic staining of cartilage perichondral inflammation destruction fibrotic replacement 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 Polychondritis serous otitis, SNHL,

49% inner ear symptoms nasal chondritis develops in 75% not necessarily coincides with auricular Polychondritis

laryngeal involvement nonproductive cough hoarseness stridor 53% airway involvement Relapsing Polychondritis Treatment salicylates, ibuprofen-symptomatic relief steroids for life threatening

dapsone (anti-leprosy) reduces lysozymes 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 Vasculitides The vasculitides are a group of diseases characterized by non infectious necrotizing .vasculitis and resultant ischemia 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 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 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 Hypersensitivity Vasculitis General collective term group of diseases inflammation of small vessels

arterioles, capillaries, venules circulating and deposited immune complexes skin always involved hemorrhage or classic purpura major organ system involvement less common

Hypersensitivity Vasculitis Head and Neck Manifestations petechiae, purpura of oral and nasal mucosa angioedema serous otitis media Treatment usually self limited especially when only skin involved systemic involvement- more aggressive

Wegeners Granulomatosis General necrotizing granulomas of upper airway, lower airway, kidney bilateral pneumonitis 95% chronic sinusitis 90% mucosal ulceration of nasopharynx 75% renal disease 80% hallmark pathologic lesion

necrotizing granulomatous vasculitis Wegeners Granulomatosis antineutrophil cytoplasmic antibody (c-ANCA) sensitivity 65-90% high specificity need to confirm diagnosis

often 3-4 biopsies necessary nasopharynx commonly involved good site open pulmonary biopsy occasionally needed untreated mortality of 90% at two years Wegeners Granulomatosis antineutrophil cytoplasmic antibody (c-ANCA) sensitivity 65-90% high specificity

need to confirm diagnosis often 3-4 biopsies necessary nasopharynx commonly involved good site open pulmonary biopsy occasionally needed untreated mortality of 90% at two years Wegeners Granulomatosis Head and Neck Manifestations

nasal symptoms crusting, epistaxis, rhinnorrhea, erosion of septal cartilage, saddle deformity, recurrent sinusitis oral cavity hyperplasia of gingiva, gingivitis Wegeners Grnaulomatosis upper airway edema, ulceration of larynx (25%) significant

subglottic stenosis (8.5%) otologic serous otitis media (20-25%), CHL, suppurative otitis media, SNHL, pinna changes similar to polychondritis, facial nerve palsies Wegerners Granulomatosis Treatment

meticulous dental and nasal care middle ear drainage cyclophosphamide 2 mg/kg plus prednisone 1 mg/kg remission 93% azathioprine or methotrexate alternative to

cyclophosphamide Wegeners Granulomatosis Treatment isolated sinonasal disease low dose steroids, saline irrigation, antibiotics as needed subglottic stenosis

may warrant tracheotomy Wegeners Granulomatosis Giant Cell Arteritis (Temporal Arteritis) Only extracranial vessels involved Focal granulomatous inflammation of medium and small arteries

Most common vasculitis Prevalence:850/100000 Age 80+ Giant Cell Arteritis Most common initial complaint: Headache-boring and constant (47%), up to 90% will develop headache ESR >50mm/hr

Confirmed by temporal artery biopsy of affected side: 5-7cm in length. If negative, biopsy contra lateral side. False negative rate of 5-40% Tender and erythematous temporal artery 50% Tender scalp Jaw ischemia 50% Lingual ischemia 25% Giant Cell Arteritis Otologic: vertigo and hearing loss

Dysphagia: ascending pharyngeal involvement CN deficits, vertebrobasilar insufficiency, psychosis=intracranial disease Blindness: 1/3 untreated patients Treatment with prednisone and normalizaton of ESR Giant Cell Arteritis

Polymyalgia Rheumatica Seen in 50% of patients with giant cell arteritis Muscular pain, morning stiffness of proximal muscles, elevated ESR without inflammatory joint or muscle disease Low grade fever, wt loss, malaise Low dose prednisone

Behcets Disease Vasculitis with triad of oral and genital ulcers and uveitis or iritis Aphthous like ulcers, covered in pale pseudomembrane Painful, on lips, gingiva, buccal mucosa, tongue, palate and oropharynx Genital ulcers similar in appearance

Heal in days to weeks with scarring Behcets Disease Cogans Disease Rare disease of young adults Vestibuloauditory dysfunction, interstitial keratitis, and nonreactive syphilis test Follows URI

Symptoms: hearing loss, vertigo, tinnitis, and aural pressure. Photophobia, lacrimation, and eye pain May resolve spontaneously Hearing loss progressive and severe w decreased or absent vestibular responses on calorics Ocular symptoms txs with topical steroids and atropine Hearing loss avoided if txs with steroids within 2 weeks of onset

Kawasaki Disease Kawasaki Disease Mucocutaneous lymph node syndrome Disease of children Fever, conjuctivitis, red dry lips, erythema of oral mucosa, polymorphous truncal rash, desquamation of the fingers and

toes, cervical lymphadenopathy Oral cavity erythema and cervical adenopathy are presenting symptoms Cardiac abnormalities cause 1-2% mortality rate

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