Scleroderma Diagnosis,  Treatment and Cost

Diagnosing scleroderma involves a comprehensive evaluation by a rheumatologist to confirm the presence of skin thickening, vascular changes, and possible involvement of internal organs. Because scleroderma symptoms can resemble other autoimmune or connective tissue diseases, a systematic approach is used to ensure accurate diagnosis.

The rheumatologist considers the following before selecting the appropriate tests to diagnose scleroderma:

• Medical history
• Physical examination
  
  

Medical history

A detailed medical history plays a vital role in diagnosing scleroderma. 

• The rheumatologist begins by asking about the patient’s symptoms, such as skin tightening, joint stiffness, Raynaud’s phenomenon (fingers turn white or blue in response to cold), heartburn, or difficulty swallowing. 
• They will also ask about the duration, severity, and progression of these symptoms, along with any family history of autoimmune diseases. 
• A history of exposure to certain chemicals, medications, or occupational hazards may also provide diagnostic clues. 
• As the disease advances, patients may report difficulty swallowing, acid reflux, or heartburn, indicating gastrointestinal involvement. Other systemic symptoms may include shortness of breath (due to lung involvement), fatigue, muscle weakness, joint pain, and signs of kidney or cardiac dysfunction.
• By recognising the pattern of symptoms and potential triggers, the rheumatologist can determine if the condition matches localized or systemic scleroderma. This also helps to rule out other diseases that cause similar symptoms.
  
  

Physical examination

A thorough physical examination helps confirm the presence and extent of scleroderma. 

• The doctor inspects and palpates the skin to detect thickening, hardening, or shiny patches — hallmark features of the disease. 
• They may check for digital ulcers, telangiectasia (small dilated blood vessels on the skin), or calcinosis (calcium deposits under the skin). 
• The evaluation also includes an assessment of joint mobility, muscular strength, and facial appearance, as scleroderma can induce facial skin tightness and restricted mouth opening. 
• The doctor evaluates blood flow to the fingers and toes for signs of Raynaud’s phenomenon and may listen to the heart and lungs for evidence of internal organ involvement. Physical findings, combined with the patient’s medical history, provide strong evidence toward diagnosing scleroderma and determining its severity.

✅Scleroderma Diagnostic Tests

Based on the clinical evaluation and presenting symptoms, a rheumatologist may recommend specific tests to confirm the diagnosis of scleroderma, determine the disease subtype, and assess the extent of internal organ involvement. Early identification is essential to guide treatment and prevent serious complications.

The following diagnostic tests may be suggested for the diagnosis of scleroderma:

• Laboratory evaluation
• Complete blood count
• Kidney function test
• 24-hour urine protein or urine protein creatinine ratio
• Inflammatory markers (ESR and CRP)
• Muscle enzymes
• Autoantibody tests
• Antinuclear antibody (ANA)
• Scleroderma-specific antibody testing
• Ancillary & radiographic evaluation
• X-ray 
• Musculoskeletal ultrasound
• Electromyography (EMG)/nerve conduction studies
• Muscle biopsy
• High-resolution computed tomography (HRCT)
• Pulmonary function tests (PFTs)
• Right heart catheterisation 
• Electrocardiography (ECG) and Holter monitoring
• Nail-fold capillary microscopy
• Cardiac magnetic resonance imaging (MRI)
• Transthoracic echocardiography 
• Gastrointestinal studies
• Upper endoscopy
• Esophageal manometry
• 24-hour pH monitoring
• Computed tomography (CT) scan
  

Laboratory Evaluation

Laboratory testing is important in identifying scleroderma and determining the level of organ involvement. While no single test can confirm the condition, a combination of laboratory data helps in diagnosis and monitoring disease activity and complications.
 

Complete blood count (CBC):  A CBC helps identify abnormalities that may be associated with scleroderma or its complications. 

• Some patients may show mild anemia due to chronic inflammation, gastrointestinal blood loss from telangiectasia, or malabsorption. 
• Low white blood cell (WBC) count may suggest bone marrow suppression from medications, while elevated white cell counts can indicate infection or inflammation. 
• Platelet abnormalities can also occur in cases of renal crisis or systemic inflammation.
  
  

Kidney function test:  Scleroderma can cause kidney involvement, most notably scleroderma renal crisis. Kidney function tests measure serum creatinine and blood urea nitrogen (BUN) levels, which help detect early kidney impairment. Monitoring these parameters allows early detection of renal complications and prompt treatment to prevent irreversible kidney damage.

24-hour urine protein or urine protein-creatinine ratio:  These tests evaluate protein levels in the urine, which indicate how well the kidneys are functioning. Proteinuria (excess protein in urine) may signal early renal involvement in scleroderma. Tracking protein excretion over time helps detect worsening kidney disease and guide treatment decisions.

Inflammatory markers (ESR and CRP):  Inflammatory markers such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) measure systemic inflammation. Elevated levels suggest active disease or overlap with other autoimmune conditions. 

Muscle enzymes:  Muscle enzymes such as creatine kinase (CK) and aldolase are measured when muscle weakness or pain is present. Elevated levels indicate myositis (inflammation of the muscles), which can occur as part of an overlap syndrome in systemic sclerosis. Detecting muscle involvement early helps in tailoring immunosuppressive therapy to prevent further muscle damage.

Autoantibody tests

Autoantibody testing is essential in identifying scleroderma since it confirms the autoimmune origin of the disease and distinguishes it from other connective tissue disorders. These tests include:

Antinuclear antibody (ANA):  The ANA test is usually the first screening test done when scleroderma is suspected. It helps to detect antibodies directed against components of the cell nucleus. A positive ANA is seen in over 90–95% of people with systemic scleroderma, making it a useful screening test. Patterns like speckled or nucleolar may suggest scleroderma. However, ANA is nonspecific and must be considered alongside symptoms and other specific antibody tests to confirm the diagnosis.

Scleroderma-specific antibody testing:  Autoantibody tests help confirm the diagnosis of scleroderma, define its subtype, and predict organ involvement.

• Anti-centromere antibodies (ACA): Commonly seen in limited cutaneous disease and CREST syndrome (calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia); linked to slower progression but higher risk of pulmonary hypertension.
• Anti-topoisomerase I (Scl-70): Associated with diffuse cutaneous scleroderma and lung fibrosis.
• Anti-RNA polymerase III: Indicates rapidly progressing skin involvement and increased risk of renal crisis.
• Other antibodies (e.g., anti-U3 RNP, anti-PM/Scl, anti-Th/To) may help identify overlap syndromes.
  

Ancillary & radiographic evaluation

Ancillary and radiographic tests are essential in diagnosing scleroderma and assessing the extent of internal organ involvement. These include:

X-ray:  X-rays help find out changes in bones and soft tissues linked to scleroderma. Common findings include acro-osteolysis (resorption of the fingertips), calcinosis ( calcium deposits in soft tissues), and joint contractures caused by skin tightening. Chest X-rays may indicate interstitial lung disease or pulmonary fibrosis in advanced cases.

Musculoskeletal ultrasound:  It is an imaging tool that evaluates joint, tendon, and muscle involvement. Ultrasound can detect joint effusions, tenosynovitis, and calcinosis that are not evident on physical examination. It also helps distinguish between inflammatory arthritis and non-inflammatory stiffness caused by skin fibrosis in scleroderma.

Electromyography (EMG) / nerve conduction studies:  These tests evaluate muscle and nerve function when patients experience weakness, numbness, or pain. EMG and nerve conduction studies help identify neuropathies or myopathies associated with scleroderma or overlapping autoimmune diseases like polymyositis. 

Muscle biopsy:  A muscle biopsy may be performed if inflammatory myopathy is suspected. It involves removing a small muscle tissue for microscopic examination. The biopsy reveals fibrosis, inflammation, or damage to muscle fibres, and diagnoses scleroderma-associated myositis or distinguishes it from other muscle disorders.

High-resolution computed tomography (HRCT):  HRCT is the most sensitive imaging test for detecting lung involvement in scleroderma. It identifies interstitial lung disease , pulmonary fibrosis, and ground-glass opacities even in the initial stages when X-rays appear normal. 

Pulmonary function tests (PFTs):  PFTs measure lung volumes and gas exchange capacity. A decreased forced vital capacity (FVC) or diffusing capacity for carbon monoxide (DLCO) suggests pulmonary hypertension or restrictive lung disease.

Right heart catheterisation:  This invasive test is the gold standard for diagnosing pulmonary arterial hypertension (PAH), a severe complication of scleroderma. It measures pulmonary artery pressure and right heart function, confirming the diagnosis of PAH and guiding correct medical therapy.

Electrocardiography (ECG) and Holter monitoring:  An electrocardiograph monitors the electrical activity of the heart to detect arrhythmias, conduction abnormalities, or signs of right heart strain. Holter monitoring offers continuous ECG recording for 24 to 48 hours. It captures intermittent rhythm problems that may happen in scleroderma because of fibrosis or myocardial ischemia.

Nail-fold capillary microscopy:  This non-invasive test examines the small blood vessels (capillaries) at the base of the fingernails using a microscope. In scleroderma, capillary loops show characteristic abnormalities such as dilatation, dropouts, and haemorrhages.

Cardiac magnetic resonance imaging (MRI):  Cardiac MRI provides a detailed visualisation of the heart's structure and function. It reveals myocardial fibrosis, inflammation, and decreased ventricular function that are not visible on echocardiography. 

Transthoracic echocardiography:  This noninvasive ultrasound examination assesses heart structure and pumping efficiency. It can detect pericardial effusion, pulmonary hypertension, and right ventricular failure, which are all possible cardiac manifestations of systemic sclerosis.

Gastrointestinal studies

Gastrointestinal (GI) evaluation is an important part of diagnosing scleroderma because the disease frequently affects the digestive tract, especially the esophagus, stomach, and intestines. These tests are:

Upper endoscopy (EGD):  In scleroderma, this examination may suggest esophagitis (acid reflux-related inflammation), erosions, ulcers, or strictures caused by chronic GERD. It also detects gastric antral vascular ectasia (GAVE), commonly known as "watermelon stomach," a characteristic vascular lesion seen in case of systemic sclerosis. Biopsies may be taken during the procedure to rule out infection or malignancy.

Esophageal manometry:  It measures the strength and coordination of muscle contractions in the esophagus and the function of the lower esophageal sphincter (LES). Patients with scleroderma generally show absent or weak peristalsis in the lower esophagus and a hypotensive LES, which causes acid reflux and swallowing difficulties.

24-hour pH monitoring:  This test measures acid levels in the esophagus over 24 hours. In patients with scleroderma, this study often shows prolonged acid reflux due to LES weakness and poor esophageal clearance. 

Computed tomography (CT) scan:  A CT scan of the chest and abdomen helps detect GI and lung complications in scleroderma. It may show esophageal dilation, bowel wall thickening, pseudo-obstruction, or aspiration-related lung changes.

✅Stages of Scleroderma

Scleroderma has a particular development pattern that includes changes to both the skin and internal organs. Clinically, the disease can be understood through two key stages: a three-phase pattern of skin involvement and a five-phase systemic process. Understanding these phases helps in early recognition, monitoring progression, and guiding treatment.

Skin stages include:

Edematous phase: The early stages of scleroderma are distinguished by swelling and puffiness of the skin, particularly on the fingers and face. Fluid collection and inflammation cause the skin to seem shiny, smooth, and sensitive.

Sclerotic/indurative phase: In this stage, swelling subsides, and the skin becomes hard, thick, and tight due to excessive collagen buildup. This causes stiffness, shiny skin, and limited joint move  ment. When it affects the fingers, it is called sclerodactyly. 

Atrophic phase: The late stage, where the skin becomes thin and tightly bound to the underlying tissues. Veins may become visible, fingers may appear claw-like, and ulcers may form because of poor blood supply. This phase indicates irreversible tissue damage.

Systemic disease phases include:

• Stage 1: Immune system malfunction: Scleroderma develops when environmental factors cause the immune system to accidentally target the body's own tissues. This inappropriate immune response leads to inflammation and tissue damage.
• Stage 2: Circulating pathogenic factors: The immune system creates autoantibodies that attack connective tissue and blood vessels, resulting in inflammation and damage. Common autoantibodies in scleroderma include ANA, anti-centromere , and anti-Scl-70.
• Stage 3: Microvascular endothelial damage: Autoantibodies and inflammation damage small blood vessels, causing them to narrow and leak. Reduced blood flow leads to symptoms such as Raynaud's phenomenon and marks the onset of vascular disease in scleroderma.
• Stage 4: Fibrosis (thickening/scarring): Ongoing vessel damage activates fibroblasts to overproduce collagen, causing fibrosis. This causes skin hardening and thickening, as well as reduced organ elasticity.
• Stage 5: Organ damage: Fibrosis disrupts the normal function of the skin, lungs, heart, kidneys, and GI tract, leading to complications such as lung fibrosis, pulmonary hypertension, and renal crisis. Damage is often permanent, so treatment aims to manage symptoms and slow progression.

✅Scleroderma Differential Diagnosis

The differential diagnosis for scleroderma involves distinguishing it from other conditions with similar clinical features. Careful evaluation is essential to rule out diseases such as: 

• Nephrogenic systemic fibrosis: It is a fibrosing disorder usually triggered by exposure to gadolinium in patients with kidney failure. It lacks Raynaud’s phenomenon and antinuclear antibodies (ANA), which are common in scleroderma.
• Eosinophilic fasciitis: This presents with thickening and induration of the fascia of the limbs but spares the hands and feet. Unlike scleroderma, it typically has normal nailfold capillaries, no Raynaud’s phenomenon, and negative ANA.
• Eosinophilia-myalgia syndrome: This involves muscle pain and eosinophilia with skin changes but lacks the vascular features, such as Raynaud’s phenomenon and capillaroscopy changes, seen in scleroderma.
• Scleromyxedema: This rare disorder involves deposition of mucin and fibroblast proliferation in the skin, leading to waxy, thickened skin that can resemble scleroderma. 
• Scleredema: It presents with non-pitting skin thickening, usually on the neck, shoulders, and upper back, often following infections or in diabetic patients. Unlike scleroderma, it spares the hands and fingers and does not involve autoimmunity or internal organ fibrosis. 
• Systemic lupus erythematosus (SLE): It may exhibit skin and systemic involvement similar to scleroderma but usually manifests with photosensitive rashes, oral ulcers, and different autoantibody profiles. Raynaud’s can occur, but sclerodactyly and skin thickening are less common.
• Dermatomyositis: This autoimmune muscle disease causes skin rashes and muscle weakness that may resemble early scleroderma.

✅Consideration of a Rheumatologist for Treating Scleroderma

A rheumatologist considers the following factors before planning treatment for scleroderma:

• Type and extent of scleroderma (limited or diffuse form)
• Organs involved (skin, lungs, heart, kidneys, gastrointestinal tract, etc.)
• Severity and progression of symptoms
• Presence of inflammation or active disease
• Patient’s age and overall health condition
• Response to any previous treatments/ management
• Presence of complications such as pulmonary hypertension or scleroderma renal crisis
• Patient’s lifestyle, preferences, and treatment goals

✅Scleroderma Treatment Goals

The goals of scleroderma treatment are:

• To relieve symptoms: Treatment aims to relieve pain, stiffness, and discomfort caused by skin tightening, digestive issues, and Raynaud's phenomenon. This is done through medication, physiotherapy, and lifestyle changes to improve daily comfort.
• To prevent organ damage: Early and targeted therapy protects important organs like the heart, lungs, and kidneys from complications. Regular monitoring helps in detecting and managing organ involvement before it becomes severe.
• To maintain quality of life: Rehabilitation, nutrition, and emotional support helps patients staying active, manage stress, and maintain independence. The overall goal is to preserve physical function and promote well-being despite the chronic nature of the disease.

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