Diagnoses & Tests

If you test positive for ANA and your doctor suspects you have scleroderma, they will follow up by testing you for other, more specific autoantibodies. The autoantibodies in your blood show what subset or type of scleroderma disease you have and your likely prognosis.

There are nine known scleroderma-related autoantibodies that we can detect on current commercial blood tests. Each autoantibody is seen in a particular subset of scleroderma. It is very rare to have more than one of these autoantibodies. They help your rheumatologist confirm your specific diagnosis and plan your treatment.

Three scleroderma autoantibodies are the most common. They are also seen most often in certain subsets of scleroderma, so they tell us more about your possible prognosis:

Anti-RNA polymerase III (RNA Poly III): Most often seen in people with diffuse scleroderma. People with anti-RNA polymerase III antibodies are at higher risk for rapidly progressive skin thickening and kidney problems like scleroderma renal crisis.

Anti-topoisomerase I (Topo): Also called the anti-SCL-70 antibody, more commonly seen in people with diffuse scleroderma. People with anti-topoisomerase are at high risk for developing interstitial lung disease.

Anticentromere (ACA): Most often seen in people with limited cutaneous systemic sclerosis (SSc). People with anticentromere antibodies tend to develop pulmonary arterial hypertension (PAH).

There are six other scleroderma-related autoantibodies that are far less common. They may be seen in people who also have another, overlapping connective tissue disease, like polymyositis or dermatomyositis:

• Anti-fibrillarin (U3RNP)
• Anti-Th/To
• Anti-U11/U12 RNP
• Anti-U1 RNP
• Anti-PM-Scl
• Anti-Ku

At your initial clinic appointment, you’ll also have some routine tests to check your overall health. Scleroderma can affect the function of your liver, kidney, and other organs. It’s important to have baseline testing of your organ function when you are diagnosed. You may have tests like these:

Complete blood count (CBC), which measures levels of red and white blood cells and platelets
Metabolic panel, a blood test that measures kidney and liver function
Muscle enzyme blood testing

Urinalysis, or a urine test

What to expect: Scleroderma blood and urine tests will be performed in your doctor’s office. Your nurse will tell you if you need to prepare in any way, such as skipping breakfast the day of your blood test (also called a “fasting test”). If you’re anxious about needles or having blood drawn, let your nurse or lab tech know, so they can try to minimize your discomfort or fears.

Skin biopsy is another test to detect fibrosis, although it is not used to diagnose scleroderma. A biopsy is any test on a sample of tissue. Your doctor can do a punch biopsy, removing a small piece of your skin for examination under a microscope
and testing.

Laboratory tests on your skin samples can show signs of fibrosis, or tissue scarring. Skin changes picked up on a biopsy include overexpression of certain genes or high levels of proteins associated with scleroderma inflammation.

What to expect: Your doctor will perform a punch biopsy with a device that punches out a very small sample of skin. Typically, skin biopsy is done on a few areas of your arm, such as your upper arm, elbow and/or wrist.

First, they will clean and disinfect the areas of your skin to be biopsied. Then, they will take a regular ink pen and mark the areas where the tool will punch out each skin sample. Then, they will numb your skin with an injection of lidocaine, and a tiny amount of epinephrine to constrict the blood vessels and reduce bleeding. You will feel a little pinch and burning sensation when they give you the injections.

When they perform the punch biopsy, you should only feel some pressure, not sharp pain. Your doctor will use the tool to press down on your thick layer of skin and remove the samples to send to the lab. Your doctor or nurse will give you instructions on how to keep the biopsy areas clean, so they heal properly.

Spirometry is done using a machine called a spirometer that takes different measurements of your breathing and lung capacity, including:

Lung volume or tidal volume, or how much air that you take into your lungs when you breathe normally.

Diffusion capacity, which measures gas exchange in your lungs. That tells you how efficiently oxygen gas moves from the air you inhale into your lung tissue and then into your red blood cells. This is an important measurement of your lung function.

Forced vital capacity (FVC), or how much air you can forcefully breathe out after inhaling a quick, deep breath. You may also be tested for forced expiratory volume (FEV), or how much air you breathe out in the first few seconds of your FVC test.

Total lung capacity, or how much air your lungs can take in as you breathe very deeply, and vital capacity, which measures the amount of air you exhale after a deep breath.

Residual volume, or how much air is in your lungs after you breathe out as forcefully as you can manage.

Minute volume, or how much you can breathe out in the span of one minute.

Peak expiratory flow rate (PEFR), or how quickly you can breathe air out of your lungs.

Sometimes, your technician will ask you to do some gentle exercise to measure your lung volume and function during movement.

Pulmonary (meaning lung) function testing can help diagnose lung complications like PAH or ILD, even at early and more treatable stages. When you’re diagnosed with scleroderma, you’ll have a PFT to measure the baseline of your lung function. You’ll have regular PFTs to track any progression of lung disease over time.

What to expect: Pulmonary function tests are not invasive or painful. You’ll have your testing done either at your rheumatology clinic or a special pulmonary lab. Your technician will walk you through the testing. Some tests are done while you’re seated, while others are performed as you walk down a hallway in the clinic or lab.

You will breathe into a mouthpiece attached to a tube that connects to the spirometer. Some people need an adapter mouthpiece to ensure that it’s tightly fitted and doesn’t let air escape and throw off the measurements. Your lab technician will carefully instruct you on how to do the breaths for each test, including normal breathing, deep breathing, gentle breathing, or rapid breathing. They’ll give you time to catch your breath when you need to.

Six-minute walking testing measures how far you can walk during a six-minute period while your lab technician measures the oxygen saturation in your lungs, your blood pressure, and your heart rate. The six-minute walking test measures how far you can walk in meters, but not how quickly you’re able to walk. You won’t have to jog on a treadmill or do any special movements.

What to expect: While you do this test, you’ll wear a small oximeter on your finger or thumb. This small device measures oxygen in your blood. Some people with scleroderma who have Raynaud’s phenomenon, a condition where there is limited blood flow to your digits, need to wear an oximeter strapped to the forehead

Your technician will take you into a hallway or area for the test, then instruct you to walk normally back and forth between cones or marked areas on the floor. They’ll time you to stop you at six minutes. They will keep track of your heart and lung measurements during your walk.

Pulmonary function testing often includes a computed tomography (CT or CAT) scan, which is a series of images taken of your lungs from different angles. CT scan creates detailed visual images of the inside of your lungs, bone structure, muscles, and tiny blood vessels in your chest.

CT scans of your lungs and chest cavity can help diagnose ILD and track any progression of disease over time. High-resolution CT scans are very detailed. They can show signs of inflammation and fibrosis in your lungs, including hazy or opaque areas, infiltrates called “ground glass,” or enlargement or swelling of the smaller airways.

What to expect: You’ll have a CT scan at the clinic, hospital, or imaging lab. The test takes anywhere from 10-30 minutes. You’ll remove your clothes and any belt, jewelry, keys, eyeglasses, or other metal objects, and put on a gown. You may be asked to drink a solution of a special dye called contrast media that highlights specific parts of your body on the CT scans. Contrast media may also be given as an injection. You’ll notice a slight warming feeling or, if you drink the solution, a mildly metallic taste in your mouth.

NOTE: Contrast media dye is iodine-based. A few people may be allergic to iodine. If you think you’re allergic to iodine, let your doctor or technician know. They will likely ask you about iodine or any other allergies during your screening for the test. If you have diabetes or any kidney problems, let your doctor or technician know before a CT scan, because your kidneys filter the iodine from the contrast dye from your blood.

For the CT scan, you will lie back and rest comfortably on a bed while your technician takes various pictures. They may ask you to hold your breath very briefly at certain points to avoid blurry images. While your CT scan is being done, you’ll hear buzzing and clicking sounds.

After your CT scan, you can go about your normal activities the rest of the day. Your technician may ask you to sit up and relax just for a few minutes just to be sure you’re feeling alright. If contrast dye was used during your scan, you’ll be given instructions on how to flush it out, including drinking plenty of fluids so you urinate.

CT scans do involve a very small amount of radiation. The amount of radiation will be kept as low as possible while ensuring that your scan results in clear images. The risk of missing signs of ILD are greater than any possible risk for this very low dose of radiation. If you’re concerned about the contrast dye or radiation involved in a CT scan, talk with your doctor.

Upper endoscopy is a test that can diagnose GI complications of scleroderma early, so you can get treatment. An endoscope is a long, thin tube with a camera on the end that is inserted into your GI tract to show images of the interior of your esophagus, stomach, and duodenum, or the first, “upper” section of your small intestine, where these GI problems tend to occur. This test is also called esophagogastroduodenoscopy (EGD).

What to expect: EGD is a surgical procedure done at a hospital or GI procedures clinic. You’ll be sedated for the test. You won’t be awake or feel any pain or discomfort. The test takes about 20-30 minutes to complete.

Because you will be sedated for this test, you’ll need a family member or friend to drive you to and from your appointment.

Before your EGD, you’ll have an appointment with your doctor to have a physical exam and blood tests. They’ll go over any medications or supplements you take regularly, any allergies you have, if you’re pregnant or may be pregnant, and how to prepare for your test. You will be given consent forms for the test, and your doctor will explain how it works and any possible, if rare, complications.

You can’t eat or drink anything for at least eight hours before your EGD test. Once you arrive at the clinic or hospital, you’ll change into a surgical gown. An anesthesiologist will give you medicine through an IV so you go to sleep.

During the test, the endoscope is inserted into your GI tract through your mouth. Your doctor will pipe in some air to expand your stomach and intestines so the endoscope’s tiny camera can show the interior more clearly. On a screen, your doctor will look for signs of inflammation, growths, bleeding, or ulcerations. They can also take very tiny samples of tissue from your GI tract (also called biopsy) to be tested in a lab. If you have any polyps or growths of tissue, your doctor can remove them during your EGD while you sleep. Then, they’ll remove the endoscope.

Once you wake up in the recovery room, you may feel a little pressure in your stomach. You may have to flatulate to release any gas. You’ll rest for about an hour as the sedative wears off. Your nurse and doctor will tell you when it’s time to get dressed and go home. Once your friend or family member drives you home, plan to rest and relax for the remainder of the day. Test results for any biopsy done during your EGD will be ready in about a week.

Your doctor may prescribe a 24-hour GI test that you do at home on your own. This test uses a catheter inserted into your esophagus to measure acid levels and spot signs of GI complications that need to be assessed and treated, such as acid reflux.

What to expect: Your GI nurse will insert a very small, thin catheter through your nostril and into the upper part of your esophagus. You may feel a little pressure as they insert the lubricated tube. Your nurse will instruct you to swallow as they position the tube in the correct place for the test.

You go home with the catheter inserted for 24 hours. Try to do your normal activities. You can eat and drink with the catheter in place. You can eat any foods you like during meals, but only drink water between meals. Don’t fast or skip any meals.

When you lie down to sleep that night, you’ll punch a little button on a device attached to the catheter that records any symptoms you have. The next day, you’ll go back to your doctor’s office, where the nurse will remove the catheter and review the data it has collected. Your doctor can go over the test results with you and prescribe any treatments you need.

If your scleroderma causes GI symptoms like dysphagia (trouble swallowing) or pain, your doctor may suggest other tests to diagnose the cause and prescribe the right treatment. Not everyone with scleroderma will need these tests, and some tests, like colonoscopy, are standard screenings for cancer that everyone should have by the time they’re in their 40s or 50s, depending on individual risk or family history.

Esophageal dilation: During an EGD (upper endoscopy), your doctor may perform a test called esophageal dilation. They use an instrument to expand your esophagus t

Colonoscopy: If your doctor suspects that you may have intestinal bleeding, they may suggest a colonoscopy. Similar to an EGD, colonoscopy is a procedure you have while sedated. Your doctor inserts a long, thin tube with a camera on the end, but in a colonoscopy, it is inserted through your anus. The camera can show inside your colon to look for sources of bleeding. Your doctor may be able to treat the bleeding with laser therapy while you’re asleep.

Hydrogen breath test: If your doctor suspects that you have a bacterial overgrowth in your intestines, you can have a breath test to detect it. You simply drink a sugary solution, then breathe into a tube attached to an inflatable balloon. Your breath is tested for signs of gases like hydrogen or methane that are telltale byproducts of bacterial overgrowth. All you’ll need to do to prepare for this test is eat a low-carb diet for two days to cut down on the amount of fiber—which causes gas—in your system that could throw off your test results.

Gastric emptying study: This test can measure motility, or how long it takes for food to move through your GI system. If you experience bloating often, or feel very full after eating small meals, you may need a gastric emptying study to find out why. After midnight on the day of your test, don’t eat or drink anything. At the hospital, you’ll eat a breakfast that includes eggs scrambled with a radioactive solution that you won’t taste. A technician will insert an endoscope into your upper GI tract and take a series of images over four hours. You can get up and move around between each image. This test times how long it takes for your stomach to empty out the breakfast. Your doctor can interpret the results and suggest treatments if needed.

Renal biopsy: Scleroderma-related renal crisis is a rare medical emergency where blood pressure is highly elevated and kidney function declines. Signs that suggest scleroderma renal crisis include a drop in your urine production and abnormal urinalysis results. Most people with scleroderma will not need this test, but if kidney complications worsen, it is possible that you will need a renal biopsy, which would be performed surgically in a hospital.