SCLERODERMA

1. SCLERODERMA Virginia Steen, MD Professor of Medicine

2. Scleroderma • Localized Scleroderma • Morphea • Linear Scleroderma • En Coup de Sabre (Progressive Hemi-atrophy) • Pansclerotic, Deep subcutaneous

3. Linear Scleroderma Hyperpigmented, Muscle atrophy but normal strength Linear, single extremity

4. Linear Scleroderma Severe contractures, growth disturbances, atrophy

5. Systemic Sclerosis An uncommon disease 250/million population, 20 new cases/ million per year, about 80- 150,000 in US Age onset usually 30-50 years, rare under 10. Female 3-5: 1; Increased in African-Americans Multisystem disease - Raynauds, digital ulcers, arthritis, tendon inflammation, skin thickening, myopathy, gastrointestinal, lung, heart and kidney involvement Survival – decreased primarily from severe lung involvement, pulmonary fibrosis and pulmonary hypertension

6. Diagnosis • Clinical diagnosis by Rheumatologist • Raynaud’s • Swollen fingers and/or skin thickening of hands/face • Esophageal symptoms-GERD. • Other organs- • Small intestines • Pulmonary Fibrosis • Pulmonary Hypertension • Cardiac or Kidney involvement

7. Laboratory 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 tests • GI x-rays supportive but not required for diagnosis

9. Clinical features associated with limited and diffuse scleroderma Limited cutaneousDiffuse cutaneous Raynaud’s -1st symptom, Raynaud’s often delayed alone for many years Acute onset, a lot of Milder general symptoms constitutional symptoms Milder joint symptoms Arthralgias, carpal tunnel Tendon friction rubs Puffy FINGERs Swollen, puffy HANDs Limited skin thickening Early diffuse skin Anti-centromere antibody Anti-Scl 70 antibody Anti-RNA polymerase III

10. NATURAL HISTORY OF SCLERODERMA SUBSETS Contractures Renal crisis Myocardial failure 50 SKI N THICKNESS Pulmonary fibrosis 40 Diffuse scleroderma 30 20 Pulmonary hypertension Malabsorption Limited scleroderma 10 0 15 20 5 10 DISEASE DURATION (YEARS)

11. RAYNAUD’S

12. Digital Ulcers

13. ... and can lead to auto-amputation

14. Skin Thickening

15. Swollen Hands

16. Early Scleroderma Puffy Phase

17. Evaluation of Skin Thickening Rodnan Skin Score 17 different sites- Score 0 to 3 Total 51 Limited - <12 Diffuse >12 Measuring skin thickness. Rodnan Skin Score Other Measures- Health Assessment Questionnaire Medsger Severity Scale (only research)

18. Joint and Tendon • Hand swelling, joint pain and stiffness- fingers, wrists, swelling/puffiness, other joints also • Contractures- hands, wrists, hips, shoulders, elbows. • Acroosteolysis- deformity causing loss of function • Tendon rubs- painful- hands, arms, ankles, knees

19. Sclerodactyly

20. Hand Contractures

21. CALCINOSIS

22. ACROOSTEOLYSIS

24. Systemic Sclerosis- Multisystem Disease

25. Gastrointestinal Involvement • Esophageal- trouble swallowing, heartburn, reflux, potential aspiration • Stomach –bloating, inability to eat full meals, need to eat small frequent meals • Small Intestine- malabsorption, diarrhea, pseudo obstruction, bacterial overgrowth, weight loss, need for hyperalimentation. • Large Intestine- constipation, rectal prolapse • Rectum- fecal incontinence

26. PULMONARY PROBLEMS IN SYSTEMIC SCLEROSIS • Pleurisy, pleural effusions, pleural scarring • Spontaneous pneumothorax (bronchiectasis) • Aspiration pneumonia • Malignancy-all cell types • BOOP • Interstitial fibrosis • Pulmonary vascular disease (PHT)

27. Pulmonary Fibrosis • Shortness of breath with activity • Fatigue with activity • Pulmonary function tests- Decreased FVC, TLC and DLCO, restrictive disease • CT scan of lung- scarring, honeycombing • Begins early in disease and progresses slowly or rapidly, major cause of death

28. Pulmonary Hypertension • Shortness of breath and fatigue with exercise • Occurs later in illness • More common in limited scleroderma • Low DLCO on PFTs, and high PAP on echo • Most common cause of death

29. Heart and Kidney • Less common but more serious • Heart- Pericarditis, pericardial effusion, cardiomyopathy, rhythm problems, heart failure • Kidney- Malignant hypertension, kidney failure, dialysis.

30. Disability in Limited Scleroderma • Usually after a long history of Raynaud’s, (unless digital ulcers) • Pain, fatigue, GI symptoms • Loss of hand function – digital ulcers, loss of mobility/dexterity, fine motion • Fatigue/shortness of breath- anemia, weight loss, GI, pulmonary fibrosis/hypertension.

31. Special Situations • Raynaud’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 motion • GI –can be very disabling - with severe reflux, vomiting, difficulty swallowing, fatigue, inability to eat, weight loss

32. Disability in Diffuse Scleroderma • Early in Disease- mostly from progressive skin thickening, pain, fatigue, weight loss, contractures, digital ulcers. • Pulmonary fibrosis • Heart and Kidney

33. Special 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.