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Diseases > Systemic Sclerosis | Scleroderma > Diagnosis | Systemic Sclerosis | Scleroderma

Diagnosis | Systemic Sclerosis | Scleroderma

Systemic sclerosis is a long-term (chronic) disease that causes the skin to thicken and harden. This is because the body makes too much collagen. It’s like a scar that becomes widespread affecting the skin. The most common area affected is  the fingers and possibly many other areas. Other parts of the body can be involved. This can cause a wide range of symptoms. This article will focus on systemic sclerosis or systemic scleroderma. There are other forms of non-systemic scleroderma such as morphea or linear scleroderma. They will not be discussed in this article.

What causes systemic sclerosis?

At this time, we don’t know exactly what causes systemic sclerosis. Systemic sclerosis is an autoimmune connective tissue disease. For some reason, the immune system gets confused and starts to attack the skin and connective tissues. This causes a build-up of fibrous scar tissue that makes the skin or connective tissue feel hard and inflexible.

Who gets systemic sclerosis?

Systemic Sclerosis is a rare disease. It typically affects women (90% are women) often in their 40s and 50s but it can start at any age. It is extremely rare in children. The condition is very uncommon: it is estimated that only about 1 person in every 10,000 has systemic sclerosis. Some famous people who have or have had systemic sclerosis include NFL football player Theo Bell and expressionist Swiss painter Paul Klee.

How is systemic sclerosis diagnosed?

The diagnosis of systemic sclerosis is made by an expert with experience with this condition. This is typically a rheumatologist. The diagnosis is made largely by talking with you to understand your symptoms followed by a thorough physical examination and some blood tests. In the early stages, systemic sclerosis can be difficult to diagnose.

What tests are done to diagnose systemic sclerosis?

There is no single test that is used to make a diagnosis of systemic sclerosis. Some tests that are often ordered when the diagnosis of systemic sclerosis is suspected include:

  • Skin biopsy: This can occasionally be useful but is rarely done
  • Pulmonary Function Tests: These are breathing tests that are performed to check how your lungs are working
  • Echocardiogram: This is an ultrasound to check the condition of your heart
  • Complete Blood Count (CBC) to look at your red blood cells, white blood cells, and platelets
  • Creatinine and urine testing to look at your kidney function
  • Creatine Kinase (CK) to check your muscle enzymes
  • Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP) to look for evidence of inflammation in your bloodwork
  • Anti-Nuclear Antibody (ANA) test: Almost everyone with systemic sclerosis has a positive ANA test. The pattern of the ANA may predict which category of systemic sclerosis you have
  • Extractable Nuclear Antigen (ENA) panel

Read more – Symptoms of Systemic Sclerosis