Virginia Steen, MD Professor of Medicine SCLERODERMA Virginia Steen, MD Professor of Medicine

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

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

Severe contractures, growth disturbances, atrophy Linear Scleroderma Severe contractures, growth disturbances, atrophy

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

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

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

Clinical features associated with limited and diffuse scleroderma Limited cutaneous Diffuse 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

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

RAYNAUD’S

Digital Ulcers

... and can lead to auto-amputation

Skin Thickening

Swollen Hands

Early Scleroderma Puffy Phase

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)

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

Sclerodactyly

Hand Contractures

CALCINOSIS

ACROOSTEOLYSIS

Systemic Sclerosis- Multisystem Disease

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

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)

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

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

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

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.

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

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

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.