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RH14 Rheumatology
Connective Tissue Disorders Toronto Notes 2019
Etiology and Pathophysiology
• idiopathicvasculopathy(notvasculitis)leadingtoatrophyandfibrosisoftissues
■ intimal proliferation and media mucinous degeneration → progressive obliteration of vessel lumen
→ fibrotic tissue
■ resembles malignant HTN
■ lung disease is the most common cause of morbidity and mortality
Epidemiology
• F:M=3-4:1,peakingin5thdecades
• associated with HLA-DR1 and environmental exposures (silica, epoxy resins, toxic oil, aromatic
hydrocarbons, polyvinyl chloride)
• limitedsystemicsclerosishasahighersurvivalprognosis(>70%at10yr)thandiffusesystemicsclerosis
(40-60% at 10 yr)
Signs and Symptoms
Table 18. Clinical Manifestations of Scleroderma
Cyclophosphamine versus Placebo in Scleroderma Lung Disease
NEJM 2006; 354:2655-66
Study: Double-blind, randomized, placebo-controlled trial
Outcome: Lung function and health-related symptoms
Results: The mean absolute difference in adjusted 12-month FVC percent predicted between cyclophosphamide and placebo groups was 2.53 percent, favouring cyclophosphamide. There were also treatment-related differences in physiological and symptom outcomes, and the difference in FVC was maintained at 24 months
Conclusion: Cyclophosphamide has a significant but modest beneficial effect on lung function, dyspnea, thickening of skin, and health-related quality of life in patients with symptomatic, scleroderma-related interstitial lung disease
Raynaud’s Phenomenon DDx
COLD HAND
Cryoglobulins/Cryofibrinogens Obstruction/Occupational
Lupus erythematosus, other connective tissue disease
Diabetes mellitus/Drugs
Hematologic problems (polycythemia, leukemia, etc.)
Arterial problems (atherosclerosis)/Anorexia nervosa
Neurologic problems (vascular tone)
Disease of unknown origin (idiopathic)
Features of Pathologic Raynaud’s Syndrome
• Newonset
• Asymmetric
• Precipitated by stimuli other than cold or emotion
• Associated with distal pulp pitting or tissue reabsorption
• Digit ischemia
• Capillary dilatation by capillaroscopy
System
Dermatologic
Vascular
Gastrointestinal (~90%)
Renal
Pulmonary Cardiac Musculoskeletal
Endocrine
Investigations
Features
Painless non-pitting edema → skin tightening
Ulcerations, calcinosis, periungual erythema, hypo/hyperpigmentation, pruritus, telangiectasias Characteristic face: mask-like facies with tight lips, beak nose, radial perioral furrows
Raynaud’s phenomenon → digital pits, gangrene Distal esophageal hypomotility → dysphagia
Loss of lower esophageal sphincter function → GERD, ulcerations, strictures
Small bowel hypomotility → bacterial overgrowth, diarrhea, bloating, cramps, malabsorption, weight loss Large bowel hypomotility → wide mouth diverticuli are pathognomonic radiographic finding on barium study
Mild proteinuria, Cr elevation, HTN
“Scleroderma renal crisis” (10-15%) may lead to malignant arterial HTN, oliguria, and microangiopathic hemolytic anemia
Interstitial fibrosis, pulmonary HTN, pleurisy, pleural effusions
Left ventricular dysfunction, pericarditis, pericardial effusion, arrhythmias
Polyarthralgias
“Resorption of distal tufts” (radiological finding)
Proximal weakness 2o to disuse, atrophy, low grade myopathy
Hypothyroidism
• bloodwork
■ CBC, Cr, ANA
■ anti-topoisomerase 1/anti-Scl-70: specific but not sensitive for diffuse systemic sclerosis ■ anti-centromere: favours diagnosis of CREST (limited systemic sclerosis)
• PFT
■ assess for interstitial lung disease
• imaging
■ CXR for fibrosis, echo for pulmonary HTN
Treatment
• dermatologic
■ good skin hygiene
■ low-dose prednisone (>20 mg may provoke renal crisis if susceptible), MTX (limited evidence)
• vascular
■ patient education on cold avoidance
■ vasodilators (CCBs, local nitroglycerine cream, systemic PGE2 inhibitors, PDE5 inhibitors)
• gastrointestinal
■ GERD: PPIs are first-line, then H2-receptor agonists
■ small bowel bacterial overgrowth: broad spectrum antibiotics (tetracycline, metronidazole)
• renaldisease
■ ACE inhibitor for hypertensive crisis
■ see Nephrology, NP32 for scleroderma renal crisis
• pulmonary
■ early interstitial disease: cyclophosphamide
■ pulmonary HTN: vasodilators (e.g. bosentan , epoprostenol, and PDE5 inhibitors)
• cardiac
■ pericarditis: systemic steroids
• musculoskeletal
■ arthritis: NSAIDs
■ myositis: systemic steroids