5Systemic SclerosisAn uncommon disease 250/million population, new cases/ million per year, about ,000 in USAge onset usually years, rare under 10.Female 3-5: 1; Increased in African-AmericansMultisystem disease - Raynauds, digital ulcers, arthritis, tendon inflammation, skin thickening, myopathy, gastrointestinal, lung, heart and kidney involvementSurvival – decreased primarily from severe lung involvement, pulmonary fibrosis and pulmonary hypertension
6Diagnosis Clinical diagnosis by Rheumatologist Raynaud’s Swollen fingers and/or skin thickening of hands/faceEsophageal symptoms-GERD.Other organs-Small intestinesPulmonary FibrosisPulmonary HypertensionCardiac or Kidney involvement
7Laboratory Diagnosis Laboratory - not required Antibodies helpful for prognosis, but not necessary for diagnosis ( even ANA can be negative)There can be false positives, particularly slightly positive testsGI x-rays supportive but not required for diagnosis
9Clinical features associated with limited and diffuse scleroderma Limited cutaneous Diffuse cutaneousRaynaud’s -1st symptom, Raynaud’s often delayedalone for many years Acute onset, a lot ofMilder general symptoms constitutional symptomsMilder joint symptoms Arthralgias, carpal tunnelTendon friction rubsPuffy FINGERs Swollen, puffy HANDs Limited skin thickening Early diffuse skinAnti-centromere antibody Anti-Scl 70 antibodyAnti-RNA polymerase III
10NATURAL HISTORY OF SCLERODERMA SUBSETS Diffuse scleroderma ContracturesRenal crisisMyocardial failure50SKI NTHICKNESSPulmonary fibrosis40Diffuse scleroderma3020Pulmonary hypertension MalabsorptionLimited scleroderma10510DISEASE DURATION (YEARS)
27Pulmonary Fibrosis Shortness of breath with activity Fatigue with activityPulmonary function tests- Decreased FVC, TLC and DLCO, restrictive diseaseCT scan of lung- scarring, honeycombingBegins early in disease and progresses slowly or rapidly, major cause of death
28Pulmonary Hypertension Shortness of breath and fatigue with exerciseOccurs later in illnessMore common in limited sclerodermaLow DLCO on PFTs, and high PAP on echoMost common cause of death
29Heart and Kidney Less common but more serious Heart- Pericarditis, pericardial effusion, cardiomyopathy, rhythm problems, heart failureKidney- Malignant hypertension, kidney failure, dialysis.
30Disability in Limited Scleroderma Usually after a long history of Raynaud’s, (unless digital ulcers)Pain, fatigue, GI symptomsLoss of hand function – digital ulcers, loss of mobility/dexterity, fine motionFatigue/shortness of breath- anemia, weight loss, GI, pulmonary fibrosis/hypertension.
31Special SituationsRaynaud’s – can be disabling without ulcers, if job is outdoors, requires cold exposure (meat cutter)Limited skin- can be disabling even without contractures if very swollen, late acroosteolysis, need for fine motionGI –can be very disabling - with severe reflux, vomiting, difficulty swallowing, fatigue, inability to eat, weight loss
32Disability in Diffuse Scleroderma Early in Disease- mostly from progressive skin thickening, pain, fatigue, weight loss, contractures, digital ulcers.Pulmonary fibrosisHeart and Kidney
33Special Consideration Most diffuse scleroderma patients have enough problems that they are disabled.While some diffuse scleroderma patients are able to continue working, it is usually because they are professionals and have a very flexible work situation.