Scleroderma: How Blood Tests Help Diagnose and Monitor This Rare Disease

“Diagnosis is not the end, but the beginning of the healing process.” — Michael J. Fox

Introduction

Scleroderma is a rare and often misunderstood autoimmune disease that can affect the skin, blood vessels, and internal organs. While its symptoms can vary widely and mimic other conditions, early diagnosis is essential for managing progression and improving outcomes.

One of the most powerful tools in identifying and monitoring scleroderma lies in the blood. Through a combination of specific antibody tests and inflammation markers, healthcare providers can piece together a clearer picture of what’s happening inside the body.

In this article, we’ll explore how blood tests play a critical role in diagnosing scleroderma, the most common lab markers used, and how ongoing testing can help patients and providers manage this complex condition more effectively.

For a deeper dive into this topic, check out the latest episode of The Health Pulse Podcast below. We break down the key insights, explore real-world applications, and share tips to help you stay informed and proactive about your health.

What Is Scleroderma?

Scleroderma, also known as systemic sclerosis, is a chronic autoimmune disease that primarily affects the connective tissues of the body. In scleroderma, the immune system becomes overactive and mistakenly attacks healthy tissue, leading to inflammation, thickening, and scarring (fibrosis) of the skin and internal organs.

There are two main types of scleroderma:

• Localized scleroderma – Affects only certain areas of the skin and sometimes the muscles beneath, but typically does not impact internal organs.

• Systemic scleroderma – Affects the skin and internal organs such as the lungs, heart, kidneys, and digestive system. This type is further divided into: 

  • Limited cutaneous systemic sclerosis 

  • Diffuse cutaneous systemic sclerosis

What makes scleroderma particularly challenging is its unpredictable nature. It can progress slowly or rapidly and manifest differently from one person to another.

Although it is a rare disease—affecting an estimated 100,000 Americans, according to the Scleroderma Foundation—it is more common in women, typically between the ages of 30 and 50.

Understanding what scleroderma is lays the groundwork for recognizing how blood tests are used to detect, diagnose, and monitor this complex autoimmune condition.

Common Symptoms of Scleroderma

Since scleroderma affects connective tissues throughout the body, symptoms can vary widely—not just in severity, but also in the areas they impact. Some individuals may experience only skin-related changes, while others develop complications that involve major internal organs. This variability often makes scleroderma difficult to diagnose in its early stages and highlights the importance of a thorough clinical assessment and lab testing.

Here’s a deeper look at the most common symptoms of scleroderma, broken down by the systems it most frequently affects:

Skin Symptoms

Skin involvement is often the first visible sign of scleroderma and is considered one of its hallmark features.

• Skin Thickening and Hardening: The skin may become tight, shiny, or feel stiff to the touch—most commonly on the hands, fingers, forearms, and face.

• Swelling and Puffiness: Especially in the fingers and hands, swelling may be noticeable in the early stages before hardening begins.

• Hyperpigmentation or Hypopigmentation: Some individuals notice patches of darker or lighter skin due to changes in melanin distribution.

• Digital Ulcers: Small, painful sores may form at the fingertips, particularly in people who also have Raynaud’s phenomenon.

• Calcinosis: The development of calcium deposits under the skin can cause discomfort and limit mobility.

Vascular Symptoms

Scleroderma frequently impacts the blood vessels, leading to poor circulation and related complications.

• Raynaud’s Phenomenon: A common early symptom in which the fingers or toes turn white or blue in response to cold or stress, then red as blood flow returns. It can occur years before a scleroderma diagnosis and may lead to fingertip ulcers or tissue damage.

• Telangiectasias: Small, dilated blood vessels that become visible on the face, hands, or inside the mouth.

Musculoskeletal Symptoms

As scleroderma affects the connective tissue in muscles and joints, patients may experience:

• Joint Stiffness and Pain: Especially in the fingers, hands, and wrists. This may mimic rheumatoid arthritis or lupus.

• Muscle Weakness: Particularly in the upper arms or thighs, which can affect daily functioning.

• Reduced Range of Motion: Due to thickened skin or inflammation around joints.

Pulmonary (Lung) Symptoms

Lung involvement is a serious complication of systemic scleroderma and a leading cause of morbidity.

• Shortness of Breath: Often due to interstitial lung disease (ILD), which causes inflammation and scarring of lung tissue.

• Chronic Dry Cough: May result from both lung involvement and acid reflux.

• Pulmonary Arterial Hypertension (PAH): Elevated pressure in the arteries of the lungs, which can cause fatigue, dizziness, and chest pain.

Gastrointestinal Symptoms

The digestive tract is involved in the majority of systemic scleroderma cases.

• Acid Reflux (GERD): Due to reduced esophageal motility and lower esophageal sphincter weakness.

• Bloating and Cramping: Caused by slow gut movement or bacterial overgrowth in the intestines.

• Difficulty Swallowing (Dysphagia): Due to stiffness or narrowing of the esophagus.

• Nutrient Deficiencies: Malabsorption can result in deficiencies in iron, B12, or fat-soluble vitamins.

Cardiac and Renal Symptoms

Though less common, heart and kidney involvement can be life-threatening and require close monitoring.

• Arrhythmias or Heart Failure: Caused by inflammation or scarring of the heart muscle.

• Scleroderma Renal Crisis: A sudden and severe rise in blood pressure that can lead to kidney failure if not treated urgently. Fortunately, this is now rare due to early intervention with ACE inhibitors.

Generalized Symptoms

In addition to localized effects, patients with scleroderma may experience more vague or systemic symptoms, such as:

• Fatigue: Often severe and persistent, unrelated to activity level.

• Low-grade fevers

• Weight loss

• Depression or anxiety from living with a chronic illness

Scleroderma’s presentation can be as mild as isolated skin changes or as severe as multi-organ involvement. Because of this, many people go undiagnosed or misdiagnosed for months or even years. Symptoms can resemble those of lupus, rheumatoid arthritis, or dermatomyositis, which makes lab testing essential to distinguish scleroderma from other autoimmune or connective tissue diseases.

The challenge is that many of these symptoms can overlap with those of other autoimmune or connective tissue disorders. This is where specific blood markers come into play, helping physicians differentiate scleroderma from similar conditions and tailor treatment accordingly.

How Scleroderma Is Diagnosed

Given the wide range of symptoms and its overlap with other autoimmune diseases, diagnosing scleroderma can be complex. Many patients first visit a doctor with complaints of fatigue, skin changes, or joint pain—symptoms that are common to numerous conditions. That’s why reaching an accurate diagnosis often requires a combination of clinical evaluation, imaging, and, most importantly, blood testing.

Doctors typically begin with a comprehensive medical history and physical examination, looking for hallmark signs like thickened skin, Raynaud’s phenomenon, or digital ulcers. From there, they may refer patients to a rheumatologist, a specialist in autoimmune and connective tissue disorders.

Key Tools Used in Diagnosis:

• Symptom Review & Physical Exam

Physicians will evaluate visible skin changes, range of motion in joints, nailfold capillary abnormalities, and any systemic signs like difficulty swallowing or shortness of breath.

• Imaging Studies

Chest X-rays or high-resolution CT scans may be ordered to check for interstitial lung disease, while echocardiograms help assess heart function and detect pulmonary hypertension.

• Pulmonary Function Tests (PFTs)

These are commonly used to monitor lung involvement, even in early stages before symptoms are severe.

Yet despite these clinical tools, it’s often bloodwork that provides the first concrete evidence of scleroderma—especially in patients whose external symptoms are mild or nonspecific. Specific autoantibodies, inflammation markers, and organ function panels not only support diagnosis but also help determine the subtype and severity of the disease.

In the next section, we’ll dive deeper into the most important blood tests used to confirm and monitor scleroderma—and why early lab testing can make all the difference in managing this complex condition.

Key Blood Tests for Diagnosing Scleroderma

Blood testing plays a pivotal role in diagnosing scleroderma and differentiating it from other autoimmune or connective tissue diseases. In fact, certain antibodies found in the blood are highly specific to scleroderma, helping clinicians not only confirm the diagnosis but also determine the likely pattern and severity of organ involvement.

Here are the most commonly ordered and clinically valuable blood tests in the diagnostic process:

 1. ANA (Antinuclear Antibody) Test

The ANA test is often the first blood test ordered when an autoimmune condition is suspected. It checks for antibodies that attack the nucleus of the body’s own cells.

• A positive ANA test means your immune system is reacting against your body’s own tissues.

• In scleroderma, this test is positive in over 90% of people, making it a strong indicator, but not exclusive to this condition.

• A positive ANA can also appear in lupus, rheumatoid arthritis, or even in healthy individuals—so it's a starting point, not a final answer.

• A negative ANA makes the diagnosis less likely, but not impossible

2. Anti-Centromere Antibodies (ACA)

If the ANA test is positive, doctors often dig deeper by looking for more specific antibodies. One of these is anti-centromere antibodies. This test detects antibodies directed at centromere proteins found in the nucleus of cells. It is particularly useful for identifying limited cutaneous systemic sclerosis (CREST syndrome).

• Strongly associated with milder skin involvement

• Linked to slower disease progression

• Patients may still develop complications like pulmonary hypertension

3. Anti-Scl-70 (Anti-Topoisomerase I) Antibodies

This highly specific test detects antibodies against the topoisomerase I enzyme and is more commonly seen in patients with diffuse systemic scleroderma.

• Associated with more severe skin involvement

• Indicates higher risk for interstitial lung disease (ILD)

• May correlate with faster disease progression

4. ESR and CRP (Inflammation Markers)

• Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP) are non-specific but helpful in identifying systemic inflammation

• While not always elevated in scleroderma, they may rise during flare-ups or when complications (like lung or kidney involvement) occur

• Useful for monitoring treatment response over time

5. Complete Blood Count (CBC)

• Checks for anemia, leukopenia (low white blood cells), or thrombocytopenia (low platelets)

• Abnormalities may indicate autoimmune activity, chronic inflammation, or complications like gastrointestinal bleeding from esophageal ulcers

6. Comprehensive Metabolic Panel (CMP)

• Evaluates liver and kidney function

• Can detect early signs of scleroderma renal crisis or medication-related liver strain

• Also provides baseline organ data for long-term monitoring

7. Autoimmune Panel

In many cases, providers will order a comprehensive autoimmune panel that screens for multiple antibodies at once, including:

• RNP (ribonucleoprotein) – can overlap with mixed connective tissue disease

• SSA/SSB antibodies – sometimes present in overlap syndromes like  Sjögren’s syndrome

• Rheumatoid factor (RF) and anti-CCP – may be tested to rule out coexisting rheumatoid arthritis

Together, these blood tests provide a clearer picture of what’s happening in the body and guide specialists toward the right diagnosis. Just as importantly, they offer insights into how aggressively the disease is progressing, which organs may be at risk, and what steps should be taken next in a patient’s care plan.

In the next section, we’ll explore how these same tests—along with a few others—are used not just at the time of diagnosis, but also to monitor the disease and adjust treatment as needed.

Monitoring Disease Progression with Lab Testing

Once a diagnosis of scleroderma is confirmed, blood tests don’t stop there. In fact, regular lab work becomes an essential part of disease management. Scleroderma is a chronic condition that can change over time—sometimes slowly, sometimes rapidly—so monitoring is key to catching new complications early and adjusting treatment when needed.

Think of blood tests as your ongoing roadmap, helping both patients and providers navigate the unpredictable nature of this disease.

Why Ongoing Monitoring Matters

Scleroderma can affect multiple organs—especially the lungs, kidneys, and heart. Even if these systems seem unaffected at the time of diagnosis, subtle changes can happen without obvious symptoms. That’s why lab tests are used not only to check current health status but also to spot early warning signs of serious complications.

Lab Tests Used in Monitoring

Here are the most commonly used blood tests for ongoing tracking:

• ESR and CRP (Inflammation Markers): These tests continue to be used regularly to assess whether inflammation is under control or if a flare may be occurring. Sudden increases could indicate lung, skin, or joint inflammation.

• Complete Blood Count (CBC): A drop in red blood cells could signal anemia, while low white cell counts may suggest bone marrow suppression—either from the disease itself or medications like immunosuppressants.

• Comprehensive Metabolic Panel (CMP): This is critical for tracking kidney and liver function over time. It helps detect conditions like scleroderma renal crisis early, a potentially life-threatening complication that requires immediate treatment.

• Creatine Kinase (CK) or Aldolase: If muscle involvement is suspected, these tests measure muscle enzyme levels in the blood, which rise when muscle tissue is inflamed or damaged.

• NT-proBNP or BNP: These are markers used to evaluate heart function and detect early signs of pulmonary hypertension or heart failure, which can occur in systemic scleroderma.

Who Benefits Most from Regular Testing?

• Patients with diffuse scleroderma: This form often progresses more quickly and is more likely to involve internal organs.

• Those on long-term medications: Drugs like corticosteroids, immunosuppressants, or ACE inhibitors can affect liver, kidney, and blood cell function.

• People with early or mild symptoms: Lab results may detect changes before symptoms become noticeable, allowing for earlier intervention.

How Often Are Tests Done?

The frequency depends on the type and severity of scleroderma, as well as the organs involved. Some tests may be ordered every 3–6 months, while others—like inflammation markers—may be checked more often during flare-ups or treatment adjustments.

Your rheumatologist or primary provider will tailor the testing schedule to your individual case.

The Convenience of Mobile Lab Testing

For many scleroderma patients, traveling to a clinic for frequent blood draws can be exhausting—especially when fatigue, skin stiffness, or mobility issues are part of everyday life. Mobile phlebotomy services, like those offered by Quick Lab Mobile, bring the testing to you, providing a safe, convenient, and stress-free option for staying on top of your care plan.

📞 Need a blood test for ongoing autoimmune monitoring? Book a mobile visit with Quick Lab Mobile today.

Up next, we’ll look beyond blood tests and explore how lifestyle, nutrition, and whole-body wellness play a role in living well with scleroderma.

The Role of Mobile Blood Draw Services

For individuals living with scleroderma, managing health often means regular doctor visits, ongoing lab work, and proactive monitoring. But what many people outside the autoimmune community don’t realize is just how physically demanding that can be—especially when fatigue, joint stiffness, or limited mobility make even basic tasks feel overwhelming.

This is where mobile phlebotomy services become more than just a convenience—they’re a vital tool in maintaining consistent care.

Why Mobile Services Matter for Scleroderma Patients

• Reduced Physical Strain: Many scleroderma patients experience joint stiffness, skin tightening, or muscle weakness that makes driving or sitting in a waiting room uncomfortable or even painful.

• No Exposure to Germs or Stress: Infections can be more serious for those with autoimmune conditions. At-home lab draws reduce the need to visit busy clinics or hospitals.

• Better Compliance with Lab Orders: When blood work is easier to access, patients are more likely to stick to testing schedules—leading to earlier detection of complications and more timely treatment adjustments.

What to Expect During a Mobile Visit

1. You schedule an appointment online or by phone.

2. A licensed phlebotomist arrives at your home or office at the scheduled time.

3. You will receive the same high-quality care as in a clinic, but with the added benefits of comfort, privacy, and convenience right at home.

4. Your results are delivered to your healthcare provider, just as if you’d gone to a clinic.

The goal is to remove barriers to testing—so patients can focus on healing, not logistics.

Who Should Consider It?

Mobile blood draw services are ideal for:

• Patients with limited mobility

• Anyone with fatigue or chronic pain

• Individuals without easy access to a lab or clinic

• Those seeking greater comfort, privacy, and flexibility

Whether you're in an early stage of scleroderma or managing long-term complications, making blood testing easier means better care—and better outcomes.

📞 Want to book an at-home lab test? Schedule your visit with Quick Lab Mobile now.

Living with Scleroderma – Beyond the Lab

Blood tests may be essential in managing scleroderma, but they’re only one part of a much larger picture. Living well with this condition requires a comprehensive approach—one that supports not just the body, but the mind and daily lifestyle as well.

Scleroderma is more than a medical diagnosis; it’s a lived experience that affects how people eat, move, work, and connect with others. That’s why treatment plans should be personalized and holistic, adapting to the specific symptoms, pace, and emotional impact each person faces.

Lifestyle Adjustments That Make a Difference

While there’s currently no cure for scleroderma, small changes in daily habits can lead to big improvements in quality of life:

• Stay Active Within Your Limits: Gentle movement like walking, stretching, or physical therapy can improve joint flexibility and reduce stiffness.

• Eat Anti-Inflammatory Foods: A diet rich in fruits, vegetables, lean protein, and healthy fats may help support immune balance and digestive health.

• Protect Your Hands: Use gloves in cold weather, moisturize often, and avoid triggers for Raynaud’s phenomenon.

• Practice Stress Management: Meditation, journaling, or counseling can help reduce the emotional toll of living with a chronic condition.

Emotional Health & Support Systems

Chronic conditions like scleroderma often come with an invisible weight—anxiety, frustration, isolation, or grief. These emotions are normal, and they deserve attention.

• Join a Support Group: Whether in person or online, connecting with others who understand can be incredibly healing.

• Talk to a Therapist: Mental health is health. Therapists can help you process changes, manage stress, and stay resilient.

• Celebrate Small Wins: Progress isn’t always linear, but every step matters. Whether it’s a symptom-free day or keeping up with your lab work, it counts.

Staying Proactive with Care

Ultimately, early detection, regular testing, and a proactive mindset are your best tools in living with scleroderma. By combining medical insight (through blood tests and exams) with lifestyle strategies and personal support, many people with scleroderma are able to live full, meaningful lives.

“You are not defined by your diagnosis. With the right tools, support, and care—you can still thrive.”

Conclusion

Scleroderma is a complex and often misunderstood condition, but knowledge is power—especially when it comes to early detection and long-term management. Blood tests provide the foundation for identifying the disease, monitoring its progression, and tailoring care to each person’s unique experience.

From tracking inflammation to detecting antibodies, these tests help paint a clearer picture of what’s happening inside the body—even when symptoms aren’t yet visible. Combined with lifestyle changes, emotional support, and consistent follow-up, patients can take a proactive role in their health.

And for those who find it difficult to get to a clinic, mobile blood draw services like Quick Lab Mobile offer a more comfortable, accessible way to stay on top of your care—without the stress.

Your health shouldn’t wait. Let us bring the lab to you.

Resources:

Watch this short video where Rheumatologist Dr. Zsuzsanna McMahan discusses the signs and symptoms of Scleroderma.

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