Systemic Sclerosis

History Taking

Chief Complaint:

• Patient may present with complaints of thickening or tightening of the skin.

• Pain or swelling in the joints may also be mentioned.

• The patient could complain about experiencing symptoms such as shortness of breath, dry cough, or fatigue.

History of Presenting Complaint:

• Progressive skin changes such as skin thickening, hyperpigmentation or depigmentation, initially in hands, fingers, and face, subsequently spreading to trunk and limbs.

• Raynaud’s phenomenon (white-blue-red color changes in fingers and toes in response to cold or stress) often predating other symptoms.

• Difficulty swallowing or a feeling of food getting stuck, due to esophageal involvement.

• Joint pain and stiffness, especially in the fingers, wrists, and knees.

• Puffy hands or fingers may be reported.

• Digital ulcers or pitting scars due to poor peripheral circulation.

• Fatigue and weakness, which may be debilitating.

• Decreased exercise tolerance or dyspnea due to pulmonary involvement.

System Review:

• Gastrointestinal: Dysphagia, heartburn, or changes in bowel habits due to gastrointestinal tract involvement.

• Respiratory: Dyspnea, dry cough indicating pulmonary fibrosis, or pulmonary hypertension.

• Cardiac: Chest pain, palpitations, episodes of syncope, suggestive of cardiac involvement.

• Renal: Uncontrolled hypertension, decreased urine output, symptoms of renal crisis.

Past Medical History:

• History of autoimmune diseases like Sjögren’s syndrome, lupus, rheumatoid arthritis.

• Previous diagnosis of Raynaud’s phenomenon.

• History of lung diseases like interstitial lung disease or pulmonary hypertension.

Drug History:

• Use of immunosuppressive drugs, corticosteroids.

• Medications for symptoms of systemic sclerosis like calcium channel blockers for Raynaud's phenomenon, proton pump inhibitors for acid reflux.

• Regular monitoring of blood pressure due to risk of renal crisis.

Family History:

• Family history of systemic sclerosis or other autoimmune diseases, which may increase the likelihood of developing the condition.

Social History:

• Occupational exposure to certain chemicals like silica, vinyl chloride, or solvents may be relevant as these can be risk factors.

• Smoking history, which can affect the lungs and other organs.

Personal History:

• Difficulty in performing daily tasks due to joint involvement or skin tightness.

• Emotional stress or anxiety due to the chronic nature of the disease.

• Exercise intolerance or decreased physical activity due to fatigue, joint pain, or respiratory issues.

OBG History:

• Fertility issues or a history of miscarriages, as the disease can potentially affect reproductive health.

• Pregnancy complications such as preeclampsia or intrauterine growth restriction due to underlying systemic sclerosis.

Physical Examination

General Examination:

• Patient may appear unwell and fatigued.

• Obvious skin changes like thickened, shiny, and taut skin, more prominent over face, hands, and fingers.

• Pigmentation changes, either hyperpigmentation (darker) or hypopigmentation (lighter), may be present.

• Beaked nose due to skin tightening

• Mouth: Microstomia (small mouth due to skin tightening), dental overcrowding and telangiectasia may be seen.

• Hands: Tight, shiny skin over the fingers, causing difficulty in bending fingers (sclerodactyly).

• Presence of calcinosis cutis (hard, white calcium deposits under the skin).

• Pitting scars or digital ulcers at finger tips due to ischemia.

• Dilated nailfold capillary loops seen under the microscope (nailfold capillaroscopy).

• Raynaud's phenomenon - episodic white-blue-red color changes in fingers can be provoked by exposing the hands to cold.

• Flexion contractures or tendon friction rubs in the hands due to fibrosis of underlying connective tissue.

• Arms: Diffuse muscle weakness or muscle wasting may be present.

Cardiac Examination:

• Presence of a pericardial friction rub, indicative of pericarditis.

• Heart sounds may reveal a right-sided S3 or S4 gallop, suggestive of pulmonary hypertension or right ventricular failure.

• A loud P2 heart sound, suggestive of pulmonary hypertension.

Respiratory Examination:

• Bilateral basilar fine inspiratory crackles due to interstitial lung disease.

• Decreased chest expansion due to skin tightness or pulmonary fibrosis.

Abdominal Examination:

• Abdominal distension or bloating due to gastrointestinal involvement.

• Possible hepatomegaly or splenomegaly if there's underlying liver disease.

Neurological Examination:

• Muscle weakness due to myopathy.

• Sensory abnormalities may be present due to peripheral neuropathy.

Additional Examinations:

• Blood pressure measurement: Important to detect hypertension, a sign of renal crisis.

• 6-minute walk test may be performed if dyspnea or decreased exercise tolerance is reported.

Investigations

Laboratory Investigations:

• Complete blood count: to assess for anemia, thrombocytosis (common in inflammatory conditions), or leukocytosis.

• Biochemistry: Electrolytes, kidney function tests, liver function tests for assessment of organ involvement.

• Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP): to evaluate the level of inflammation.

• Autoimmune markers: Antinuclear antibody (ANA), Anti-centromere antibody (ACA) and Anti-Scl-70 (anti-topoisomerase I) antibody. Anti-Scl-70 is associated with diffuse cutaneous disease and increased risk of lung fibrosis, while anti-centromere is associated with limited cutaneous disease (CREST syndrome) and pulmonary hypertension.

• Urine analysis: Proteinuria, hematuria or red cell casts suggest renal involvement.

Imaging:

• Chest X-ray: to look for evidence of interstitial lung disease, pulmonary hypertension, or heart failure.

• High-resolution computed tomography (HRCT) of the chest: to assess extent of interstitial lung disease.

• Echocardiogram: to assess for pulmonary hypertension and cardiac function.

• Barium swallow or esophageal manometry: to investigate dysphagia and assess for esophageal dysmotility.

Invasive Tests:

• Right heart catheterization: for definitive diagnosis and assessment of severity of pulmonary hypertension.

• Skin biopsy: Rarely done, but can help confirm diagnosis if clinical picture is unclear. Histology shows thickened collagen bundles in dermis.

• Lung biopsy: Rarely done, due to risk, but can confirm interstitial lung disease.

• Renal biopsy: Rarely done, but can help identify scleroderma renal crisis if clinical picture is unclear.

Other Tests:

• Pulmonary function tests: to assess lung function, particularly forced vital capacity (FVC) and diffusion capacity of the lungs for carbon monoxide (DLCO).

• Capillaroscopy of the nail fold: for observation of dilated capillaries, which is a common finding in systemic sclerosis.

• Esophageal pH monitoring: to assess for gastroesophageal reflux disease.

Management

General Management:

• Patient education: about the disease process, importance of regular monitoring and medication adherence.

• Lifestyle modifications: smoking cessation, regular exercise, avoiding cold exposure to prevent Raynaud’s phenomenon.

• Multidisciplinary approach: Involvement of physiotherapists, occupational therapists, dieticians, psychologists as needed.

• Regular follow-ups: to monitor disease progression and organ involvement.

Medical Management:

• Raynaud's phenomenon: Calcium channel blockers (e.g., nifedipine), PDE-5 inhibitors (e.g., sildenafil).

• Skin involvement: Topical moisturizers, systemic therapy with methotrexate or mycophenolate mofetil.

• Gastrointestinal involvement: Proton pump inhibitors for reflux, prokinetic agents for gastroparesis, laxatives for constipation.

• Interstitial lung disease: Cyclophosphamide or mycophenolate mofetil, nintedanib.

• Pulmonary arterial hypertension: Endothelin receptor antagonists (e.g., bosentan), PDE-5 inhibitors, prostacyclins.

• Scleroderma renal crisis: ACE inhibitors.

• Joint and muscle involvement: NSAIDs, low-dose corticosteroids, physiotherapy.

• Immunosuppression: Methotrexate, cyclophosphamide, mycophenolate mofetil.

Surgical Management:

• Lung transplantation: considered for severe pulmonary involvement unresponsive to medical therapy.

• Amputation: May be required for severe digital ischemia leading to gangrene.

• Procedures for contractures: Surgical release or physiotherapy for severe joint contractures.

Other:

• Psychological support: Chronic disease can lead to depression and anxiety. Psychological counseling or psychiatric medications may be beneficial.

• Nutritional support: Dietary consultation for patients with significant gastrointestinal symptoms affecting nutrition.

• Vaccination: Influenza and pneumococcal vaccines due to increased risk of respiratory infections.