Systemic Sclerosis: Getting a Diagnosis

Blood and urine samples with medical results
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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.

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.

Getting Diagnosed: First Steps

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

  • Skin thickening around bony prominences and near your face or mouth
  • Shiny skin
  • Unexplained hair loss
  • Joint pain
  • Small calcium deposits or nodules under the skin
  • Abdominal bloating after eating
  • Constipation
  • Difficulty swallowing
  • Shortness of breath

If you have any of these symptoms, see your doctor right away. He or she may suspect systemic sclerosis. If that is the case, other tests may be done to confirm the diagnosis.

Diagnostic tests for systemic scleroderma may include:

  • Chest x-ray
  • Blood tests
  • Urinalysis
  • Biopsy of your skin, especially in areas affected by the disease

These tests are typically performed to look for changes in your immune system, indicating that your body's immune response has been triggered. This immune response is manifesting as systemic sclerosis.

Once you obtain a diagnosis of systemic sclerosis, it is time to start treatment. There is currently no cure for the disease, but it must be managed properly to help you maintain your mobility and function during day-to-day activities.

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 physician 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 I get this? Doctors 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, and medication to control inflammation and to suppress your immune system is the first step in treatment.
  • What is my prognosis? There is no cure for systemic sclerosis, so controlling inflammation and your immune response is an important component in your care.
  • How should I get started on treatment? Your doctor 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 physician 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 doctor to get started on the best treatment.

After Your Diagnosis

After being diagnosed with systemic sclerosis, your doctor 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 doctor's treatment decisions.

These types include:

  • CREST Syndrome: this is an acronym for calcinosis, Reynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias. CREST is a diffuse set of symptoms in systemic sclerosis.
  • Localized scleroderma: this affects your skin and local tissues, but not your internal organs
  • Diffuse scleroderma: this type of systemic sclerosis involves the skin and major organs and may include loss of appetite, fatigue, and joint pain and swelling.
  • Morphea: these are small, red patches of skin that thicken into oval shapes.

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 doctor 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 doctor 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.

Source:

Scleroderma Handout On Health. NIAMS. http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp

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