How Systemic Sclerosis Is Diagnosed

Systemic sclerosis is a condition that is marked by the abnormal growth of connective tissue, like collagen, in your body. This tissue supports your skin and internal organs.

Blood and urine samples with medical results
Andrew Brookes / Getty Images

It is considered an autoimmune disease; your body's immune system starts treating your skin and other tissues as a foreign invader. It then starts attacking the collagen that makes up your skin and internal organs. When systemic sclerosis affects your skin, it is commonly referred to as scleroderma.

If you suspect you may have systemic sclerosis, one of the most important things you can do is get an accurate diagnosis of the condition. Getting your condition diagnosed properly can ensure that you get the best treatment.

First Steps

Diagnosis of systemic sclerosis is typically made during a clinical examination by your healthcare provider. Examination of your skin and other symptoms may lead your healthcare provider to suspect systemic sclerosis or scleroderma. Symptoms you may experience if you have systemic sclerosis include:

  • Skin thickening or tightening of the fingers and around the mouth
  • Shiny skin
  • Unexplained hair loss
  • Episodes of cold-induced color changes and pain in the fingers and sometimes toes (Raynaud’s phenomenon)
  • Joint pain
  • Small calcium deposits or nodules under the skin
  • Abdominal bloating after eating
  • Constipation
  • Difficulty swallowing
  • Shortness of breath

The hallmark symptom of scleroderma is skin thickening of the fingers.

If you have any of these symptoms, see your healthcare provider right away. He or she may suspect systemic sclerosis. If that is the case, other tests may be done to help make the diagnosis. Diagnostic tests may include:

• Chest X-ray, chest CT, and pulmonary function tests to look for lung involvement

  • Blood tests to look for autoantibodies
  • Blood and urine tests to look for kidney involvement
  • An EKG and echocardiogram to look for heart involvement
  • Rarely, a biopsy of the affected skin is necessary

Once you have a diagnosis of systemic sclerosis, it is time to start treatment. There is currently no cure for the disease, but there are many approaches to reducing symptoms, improving your day-to-day function, and limiting progression of the disease.

Questions to Ask During the Diagnosis Process

During the diagnosis process you will likely have many questions. This is normal, and it is important to fully understand your condition to ensure that you treat it right.

Common questions to ask your healthcare provider during the diagnosis process may include:

  • Who gets systemic scleroderma? Systemic sclerosis occurs more frequently in women than men, and the average age of onset is typically 30 to 50 years, although it can affect anyone at any age.
  • Why did you get this? Medical professionals and scientists are unsure of why people get systemic sclerosis or scleroderma. There is nothing you did personally to get the disease.
  • Is systemic scleroderma treatable? Systemic sclerosis is a treatable condition. Treatment regimens focus on alleviating symptoms and controlling the underlying autoimmune response. 
  • What is your prognosis? There is no cure for systemic sclerosis, so controlling inflammation and your immune response is an important component in your care.
  • How should you get started on treatment? Your healthcare provider will work with you to ensure you are taking the right medication for your specific type of systemic sclerosis. Typically systemic sclerosis is managed by a specialist called a rheumatologist.

The most important thing you can do during the diagnosis process is learn all you can about your condition and work with your healthcare provider to get started on the best treatment.

After Your Diagnosis

After being diagnosed with systemic sclerosis, your healthcare provider can help you get the proper treatment for the condition. There are different types of systemic sclerosis, and the type you have may guide your healthcare provider's treatment decisions. These types include:

  • Limited cutaneous systemic sclerosis (lcSSc): Skin involvement is limited to the hands/lower arms, feet/lower legs, and face. CREST Syndrome is a form of lcSSC. CREST stands for its most prominent features: calcinosis, Reynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias. People with lcSSc may develop severe vascular complications including damage to the fingers from Raynaud’s phenomenon and pulmonary hypertension (high blood pressure between the heart and lungs).
  • Diffuse cutaneous systemic sclerosis (dcSSc): Skin involvement begins like in lsSSc but eventually involves the entire limb and often the trunk. People with dcSSc may develop involvement of the lungs, heart, or kidneys. 
  • Systemic sclerosis sine (without) scleroderma: A small percentage of people with SSc have no detectable skin involvement but have other features of SSc.
  • Morphea: A form of localized scleroderma that leads to hardened patches of skin that are often oval or round in shape. Blood vessels and internal organs are not involved. 

Besides medication to control your immune system and decrease inflammation, there are other treatments available to help you manage systemic sclerosis. These may include:

  • Light therapy to treat skin tightness
  • Physical therapy to maintain optimal mobility and function
  • General exercise
  • Ointment for localized areas of skin tightness

Since everyone experiences a different set of symptoms with systemic sclerosis, finding the best treatment for you may take some work. Your exact treatment needs to be specific to your condition, and working with your healthcare provider to manage your systemic sclerosis is paramount.

A Word From Verywell

If you are noticing redness, shiny patches, and tightness in your skin, you may have systemic scleroderma, an autoimmune disease affecting the collagen tissue in your body. You must see your healthcare provider to get an accurate diagnosis. A simple examination, blood test, and urinalysis may be used to confirm your diagnosis, and then you can be on the road to proper treatment.

By getting an accurate diagnosis, you can get the best treatment for your condition to ensure you maintain your optimal level of activity and function.

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By Brett Sears, PT
Brett Sears, PT, MDT, is a physical therapist with over 20 years of experience in orthopedic and hospital-based therapy.