"When I found out I had scleroderma I was quite relieved, as I knew what I was dealing with at last."
Person with scleroderma

Diagnosis



Getting a diagnosis

Getting a diagnosis can be reassuring. It can also be scary but now you know what has been causing your symptoms, you can take control a little more. You can find out what scleroderma (also known as systemic sclerosis) is and work with your doctor to find the best ways to manage your symptoms so that you can carry on doing the things that are important to you. It also gives you an explanation for your family or work colleagues to help them understand what has been happening to you.

Getting there can be a bit of a rollercoaster.

The symptoms of scleroderma are not the same for every person and this makes it hard to spot. The journey is different for everyone. But for many people, the hardest part is the not knowing.


Make the most of each appointment

There are some things you can do to make the most of each appointment. Then you can be sure you get what you need.

It is important to tell your doctor everything:

  • The symptoms you have, when they started and what they mean to you on a day-to-day basis

  • What has changed since your last appointment; what has improved; what has got worse and what is new

  • How you have been managing your symptoms and what seems to make them better or worse

  • What you think of any medication or supplements you have been taking

  • Anything you are uncertain or worried about

When you have given the doctor the whole story, they will be in the best position to help you manage your symptoms. They can deal with your concerns, answer your questions and give you some clear advice about what you should and shouldn’t do to get the best control of your symptoms.

So many times, I’d leave an appointment with an uneasy feeling. You know that feeling in the pit of your stomach when something’s unfinished. I’d forgotten to mention this. Or we never even got on to that. No more, I said. Each appointment was a chance to get an explanation for my symptoms. So I started treating it like a business meeting. I’d prepare. I’d write myself a little agenda – things I wanted to cover, issues I wanted to mention. My kids found it hilarious. I found it kept me focused.

Person with scleroderma


Tests for scleroderma

There isn’t a specific test for diagnosing scleroderma. Using several tests can help to build a good picture. They can give the doctor an idea of what’s happening.1

Here are some of the more commonly used tests that your doctor might use to diagnose or monitor scleroderma. Your doctor will decide which tests they need to do and when. It may be that the tests are not all done at the same time. But your doctor will let you know.

Tests used in scleroderma2, 3 

There are many other tests that you might be asked to have. Each test is important because it builds a picture of what's happening in your body.

Your doctor will tell you when to expect your results. When you get them, it’s a good idea to ask for them to be explained to you. This can give you a better understanding of your own symptoms and disease.

Blood and urine tests

Looking at:

  • Many things your body uses or produces that are carried in your blood or passed out in your urine. These tests look at the levels of different chemicals, proteins, cells and so on
  • Signs that your body’s immune system is active (inflammation, antibodies or autoantibodies)
  • Signs that some organs in your body aren’t working as well as they should

What to expect:
To get clear results, you may be asked to skip breakfast or avoid certain foods just before the test. You might be asked to skip your usual medication before they collect your blood. Your doctor or nurse will let you know. You will usually have to collect a urine sample.

Understanding the results:
Blood tests are commonly used to assess what’s happening in the body and to see if your organs are working properly. There are many types of tests and some could be used by your doctor to exclude other causes of your symptoms.

Often, people with scleroderma have autoantibodies in their blood. This can be a cause of inflammation:

  • ‘Antibodies’: proteins that form a key part of your body’s defence against bacteria and viruses. They search for, and attach themselves to, these invaders, helping your immune system find them and get rid of them
  • ‘Autoantibodies’: antibodies that target your body’s own cells, instead of invaders

There are many forms of autoantibodies. The most common autoantibodies associated with scleroderma are called:1, 4, 5

  • Anti-topoisomerase I (also called Scl-70)
  • Anti-centromere (or ACA)
  • Anti-RNA polymerase III

These are known as anti-nuclear antibodies, or ANAs. ANAs are markers that help with diagnosis. They may also be useful to predict the risk of certain scleroderma complications.5-7

Nail blood vessel test (nailfold capillaroscopy)

Looking at:
Health of the little blood vessels.

What to expect:
Your doctor or nurse will use a microscope or a small camera (sometimes called a dermatoscope) to look at the skin at the bottom of your fingernails (your nailfold). This process of viewing these blood vessels (capillaries) is called nailfold capillaroscopy. It usually takes place in a doctor’s office. It won’t be painful. This test is sometimes used at diagnosis.3

Understanding the results:
The results will tell them what the blood vessels in the rest of your body might be like. In scleroderma, they can be abnormally shaped and this can affect how your blood reaches areas of your body. It might be one of the reasons you experience blood flow problems, like Raynaud’s phenomenon.

Blood pressure test

Looking at:
Pressure of the blood in the main blood vessels that supply your body.

What to expect:
A band will be put around your upper arm. The doctor or nurse will then fill it full of air. This might feel a bit uncomfortable but it’s only temporary. The air will slowly be released and this will tell them the blood pressure. You may have had one of these tests before. It usually takes place in a doctor’s office.

You can also buy blood pressure monitors to use at home. These can help you monitor your own blood pressure in between medical appointments.

Understanding the results:
Blood pressure can be used to monitor your general health or determine if other diseases are causing your symptoms. It comes in waves (with every heartbeat), so two numbers are recorded; one is the maximum pressure and the other is the minimum.8 They are written like this: 120/80 mmHg. 

Normal blood pressure varies from person to person. Your doctor will be able to tell you what is normal for you. 

If you’re monitoring your own blood pressure, check with your doctor if your numbers change by more than 10.8

Skin examination 

Looking at: 
The health of your skin. 

What to expect: 
This test is sometimes used to assess your skin.3 Your doctor will ask questions about how you’re feeling and when you have the worst symptoms.

They will ask to touch your skin. They may also use a small microscope, called a dermatoscope, to look more closely. 

Understanding the results:
This test is used to see if there could be other explanations for your skin symptoms. The doctor may perform additional tests if they have further concerns.

Skin thickness test (often called a modified Rodnan skin thickness score or mRSS)9

Looking at:
The thickness of the skin. 

What to expect: 
The doctor will feel the thickness of your skin at several areas of your body. Each area is then given a number that shows how thick it is. The higher the number, the thicker the skin is compared with average skin thickness. 

Understanding the results: 
The total score gives a measure of the extent and severity of your skin symptoms.

Heart health tests 

Heart health tests

Looking at:

  • How your heart is beating – its rhythm (electrocardiogram [or ECG])3,10
  • The shape of your heart and how well it can pump blood (echocardiogram [or echo])3,11

What to expect:
In most cases, you will be lying down for these tests. For an electrocardiogram, the doctor/nurse will stick sensors to your chest and these will record the electrical signals from your heart.3,10

For an echocardiogram, the doctor/nurse will hold a device against your chest.3,11 It uses sound waves to create images of your heart as it moves. From these, the doctor can see the shape of your heart. They can also get idea of how well the blood is moving through your heart.

Sometimes, longer term heart monitoring is also needed. Measurements are taken by a small portable device that you carry around with you. This can help to give your doctor a clear picture of your heart’s health and activity throughout the day and night.

The doctor/nurse might ask you to do a more specialised type of heart test, but they will tell you about this before the day. The test might take place at a specialist heart clinic.10, 11

Understanding the results:
Heart health is not used to diagnose scleroderma, but the results can indicate if the heart is affected. It can also be used to exclude other diseases that might be causing your symptoms.

Lung health tests (also called lung function tests [LFTs] or pulmonary function tests [PFTs])

Looking at:
How well your lungs are working (how much air you can breathe in and out, how well, and how much oxygen gets from your lungs into your body).

What to expect:
There are a few different types of lung function test. These will usually involve breathing into tubes in certain ways. The doctor may also listen to the sounds inside your lungs. You could be asked to sit in a special room for extra measures and tests. Common tests you might be asked to take include:3

  • Measuring the capacity and flow of air into the lungs: spirometry, lung volume tests
  • Measuring how effectively the air is reaching the blood: pulse oximetry, carbon monoxide diffusion test, capillary blood sample

Most tests will be conducted at a specialist lung clinic, but some can be done by your doctor.

Understanding the results:
This varies depending on the test. Your doctor will monitor any changes over time. Read more about lung problems.

Imaging and scans

Looking at:
How healthy the organs inside your body look.12-15

What to expect:
There are many different scans and machines. Some include:

  • Ultrasound: A sensor is placed on your skin and can see inside your body using sound waves. It can see how things inside your body look and move
     
  • X-ray: Creates a picture of your lungs to check their general health. The doctor will show you what position you need to be in. It can help to wear loose, comfortable clothing. You may need to wear a hospital gown
     
  • CT (Computed Tomography) and HRCT (High Resolution CT) scan: A type of X-ray that provides sharper and more detailed pictures than a standard chest X-ray. CT scans are now used more frequently, but it varies from hospital to hospital. During the test, you will be asked to lie in a doughnut-shaped machine. A ring will then move up and down your body
     
  • MRI (Magnetic Resonance Imaging) scan: Uses a large magnet and radio waves to look at organs and structures inside your body. Health care professionals use MRI scans to diagnose a variety of conditions. During the scan, you lie on a table that slides inside a tunnel-shaped machine. Doing the scan can take a long time, and you must stay still. The scan is painless. The MRI machine makes a lot of noise and the technician may offer you earplugs

None of the scans or images will hurt. They will all be done by specialist doctors or nurses, but some of them can take a few hours. Be prepared for some waiting around.

Understanding the results:
The results vary depending on the test used. Your doctor will normally be looking for specific things in the images and may monitor the difference against any images taken previously.

The CT scan is very commonly used to monitor the health of the lungs in people with scleroderma.

References

  1. van den Hoogen F et al. 2013 classification criteria for systemic sclerosis. Arthritis Rheum 2013;65(11):2737-47.

  2. Chatterjee S. The Cleveland Clinic Foundation. Published 2010. http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/rheumatology/systemic-sclerosis/ Accessed June 2017.

  3. BMJ Best Practice. Systemic sclerosis (scleroderma): diagnosis. http://bestpractice.bmj.com/best-practice/monograph/295/diagnosis/tests.html. Accessed May 2017.

  4. Minier T et al. Preliminary analysis of the Very Early Diagnosis of Systemic Sclerosis (VEDOSS) EUSTAR multicentre study: evidence for puffy fingers as a pivotal sign for suspicion of systemic sclerosis. Ann Rheum Dis 2014;73:2087-2093.

  5. Nihtyanova SI et al. Prediction of pulmonary complications and long-term survival in systemic sclerosis. Arthritis Rheum 2014;66(6):1625-35.

  6. Pattanaik D et al. Pathogenesis of systemic sclerosis. Front. Immunol 2015;6:272.

  7. Allanore Y et al. Systemic sclerosis. Nat Rev Dis Primers. 2015; 1:1-21.

  8. NHS Choices. Blood Pressure. http://www.nhs.uk/Tools/Pages/blood-pressure.aspx. Accessed May 2017.

  9. Clements PJ et al. Skin thickness score in systemic sclerosis: an assessment of interobserver variability in 3 independent studies. J Rheum 1993;20(11):1892-96.

  10. Blood Pressure Association. Electrocardiogram (ECG) and high blood pressure. http://www.bloodpressureuk.org/BloodPressureandyou/Medicaltests/ECG. Accessed May 2017.

  11. NHS Choices. Echocardiogram. http://www.nhs.uk/Conditions/echocardiogram/Pages/Introduction.aspx Accessed June 2017.

  12. Radiological Society of North America Inc. Computed Tomography https://www.radiologyinfo.org/en/submenu.cfm?pg=ctScan. Accessed August 2017.

  13. Radiological Society of North America Inc. Magnetic Resonance Imaging (MRI) https://www.radiologyinfo.org/en/submenu.cfm?pg=mri. Accessed August 2017.

  14. Radiological Society of North America Inc. Ultrasound https://www.radiologyinfo.org/en/submenu.cfm?pg=ultrasound. Accessed August 2017.

  15. Radiological Society of North America Inc. X-ray (Radiography) https://www.radiologyinfo.org/en/submenu.cfm?pg=xray. Accessed August 2017.

     

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