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

Linear, single extremity

Hyperpigmented, Muscle atrophy

but normal strength

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 FINGERsFINGERs Swollen, puffy HANDs HANDs Limited skin thickening Early diffuse skin

Anti-centromere antibody Anti-Scl 70 antibody

Anti-RNA polymerase III

SKI N

THICKNESS

50

40

30

20

10

0

DISEASE DURATION (YEARS)5 10 15 20

ContracturesRenal crisisMyocardial failure

Pulmonary hypertension Malabsorption

Limited sclerodermaLimited scleroderma

Pulmonary fibrosis

Diffuse sclerodermaDiffuse scleroderma

NATURAL HISTORY OF SCLERODERMA SUBSETS

RAYNAUD’S

Digital Ulcers

... and can lead to auto-amputation

Skin Thickening

Swollen Hands

Early Scleroderma Puffy Phase

Evaluation of Skin Thickening

Measuring skin thickness. Rodnan Skin Score

Rodnan Skin Score17 different sites-Score 0 to 3 Total 51Limited - <12Diffuse >12

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.