Systemic Sclerosis (SSc) or systemic scleroderma is a rare disease characterized by hardening of the skin due to a build-up of fibrous scar tissue, causing a tight and shiny appearance. The most common area affected is the fingers but it can happen in many other areas. In some cases other connective tissues or organs like the lungs and kidneys are affected, leading to a wider range of symptoms.
There are two forms of systemic sclerosis: limited and diffuse. In the limited form, skin involvement is limited to lower parts of the arms and legs, and the face and neck. In the diffuse form, skin involvement can be far more widespread.
Systemic sclerosis is an autoimmune connective tissue disease, meaning it is caused by the body’s immune system attacking its own skin and connective tissues. The reason why it does this is not well understood. When the body’s immune system is “activated” in this way, it can make a person feel very tired, similar to when they have the flu.
Almost all people with systemic sclerosis have a condition called Raynaud’s phenomenon. This causes the fingers and toes or the tips to turn white and then blue and/or red in the cold because of an over-reaction to cold temperatures.
SSc is very rare. It affects about 1 in every 100,000 people. About 90% of cases are seen in women who are often aged between 40 and 60 years, but it can start at any age. It is extremely rare in children. It can be difficult to diagnose the disease when it is in its early stages.
Systemic sclerosis or systemic scleroderma (SSc) can cause a wide range of symptoms.
There are two forms of systemic sclerosis: limited and diffuse. In the limited form, skin involvement is limited to lower parts of the arms (elbows down), legs (knees down), and the face and neck. Often only the skin of the fingers and the face and neck are affected. In the diffuse form, skin involvement can be far more widespread and can also affect the trunk, back, thighs, and upper arms.
Skin changes (shiny, loss of pigment, tightening)
When the skin tightens it takes on a shiny appearance. It can lose pigment in some areas and gain pigment in others giving it a “salt and pepper” appearance. The skin can tighten on the face causing a loss of wrinkles. Tightening of the skin on the face and around the mouth can make it difficult to properly open your mouth. The fat under the skin can disappear so the cheeks may look hollow.
Lung problems (pulmonary hypertension or interstitial lung disease)
Systemic sclerosis can affect other organs. In some people, but not all, the lungs can become affected. There are two main patterns of lung problems doctors look for. The first is inflammation in the lung tissue resulting in scarring of the lungs. This is called pulmonary fibrosis. The second is fibrosis and narrowing of the blood vessels running through the lungs. This causes high blood pressures in the lungs. This is called pulmonary hypertension.
Hypertension (high blood pressure)
Systemic sclerosis can also affect the kidneys causing kidney damage and high blood pressure. In some cases the blood pressure can rise very quickly and can be a medical emergency. It is important to follow your blood pressure closely if you have recently been diagnosed systemic sclerosis and especially if you have the diffuse type.
Swallowing, heartburn, bloating
Systemic sclerosis can also affect the esophagus (swallowing tube), which is the tube that connects the mouth to the stomach. This can make swallowing food more difficult and can make it easier to choke on food. It can also lead to significant heartburn. Sometimes, other parts of the digestive tract such as the bowel can be affected. This can lead to trouble digesting food and malnutrition. Sometimes too many bacteria grow in the small bowel and this can cause bloating, possibly constipation and then foul smelling or severe diarrhea. If this problem is suspected, it is often treated with antibiotics.
Raynaud’s phenomenon (colour changes in fingers and toes)
Almost all people with systemic sclerosis have a condition called Raynaud’s phenomenon. This causes the fingers and toes or the tips to turn white and then blue and/or red in the cold. This happens because the blood vessels in the hands and feet overreact to cold temperatures and constrict (tighten) reducing the flow of blood.
In people with limited systemic sclerosis, Raynaud’s usually starts years before skin symptoms are noticed. With diffuse systemic sclerosis, Raynaud’s usually comes on around the same time as the skin symptoms. Raynaud’s in people with systemic sclerosis is usually far more severe than people who have Raynaud’s without systemic sclerosis (3 to 5% of the population). Sometimes, painful ulcers can develop on the fingertips.
Telangiectasia (tiny red dots on skin)
When small blood vessels are damaged, the body tries to make new ones. When this happens, people with SS may notice tiny little red dots on the skin. These are called telangiectasia and often appear on the palms of the hands, fingers and around the mouth.
Fatigue is a common complaint in people with systemic sclerosis because the body’s immune system is “turned on” similar to when it’s fighting a virus like the flu.
Joint and Tendon Inflammation
The joints and tendons can be inflamed in people with systemic sclerosis. This is known as inflammatory arthritis. All the fingers may be swollen like sausages.
Carpal Tunnel (Numbness and Tingling of Fingers)
It is common to have swelling at the wrist which can compress a nerve causing numbness and tingling of the fingers (carpal tunnel) at the onset of systemic sclerosis.
Some people with systemic sclerosis can also have features of other connective tissue diseases. Some examples include dryness of the eyes or mouth and muscle inflammation with muscle weakness.
Systemic Sclerosis (SSc) is best diagnosed by a rheumatologist, a type of doctor that specializes in arthritis and autoimmune disease.
To diagnose SSc, they will take a careful and complete history and perform a thorough physical examination. Based on this information, the doctor will likely order tests like blood tests and scans to confirm their diagnosis.
Common Tests to Diagnose SSc
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:
Looking for inflammation: Complete Blood Count (CBC) to look at red blood cells, white blood cells, and platelets Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP) to look for evidence of inflammation in your bloodwork
Looking for antibodies that attack the body – Most people with systemic sclerosis have a positive anti-nuclear antibody (ANA). This test helps determine if the body is making too many antibodies to itself (having a small amount is normal) and checks if they might be attacking unusual places. The pattern of the ANA may predict which category of systemic sclerosis a person has.
Looking for antibodies that attack certain proteins: the Extractable Nuclear Antigen (ENA) Panel is a test that measures antibodies to 6 or 7 other proteins in the body.
Looking at kidney function: Creatinine is a common blood test that looks at how well the kidneys are working. Abnormally high levels of creatinine can indicate a problem and can mean that the kidneys are involved.
Looking at muscle enzymes: the Creatine Kinase (CK) test looks for high levels of muscle enzymes in the blood. When the muscles are inflamed they become damaged and break down. The enzymes inside the muscles then “leak out” into the blood. The levels of these enzymes can be measured with a blood test. High levels of CK can mean that muscle tissue in the body is inflamed.
Looking for kidney involvement: urinalysis testing to detect protein or blood in the urine can give a sign that the kidneys might be involved.
Pulmonary function tests are breathing tests that are performed to check how the lungs are working, and can help determine if SSc is affecting this organ.
Looking for lung involvement: Chest x-ray and/or CT scans can help confirm if the lungs are involved.
Echocardiograms are a type of ultrasound that checks the condition of the heart.
Skin biopsy: this type of test can occasionally be useful but is rarely done. A small sample of tissue is taken from the patient to be analyzed by doctors.
Looking for nerve involvement: EMG or Nerve Conduction Studies can be performed to look for nerve involvement.
Scientists don’t know exactly what causes systemic sclerosis. As an autoimmune connective tissue disease, the immune system gets confused and starts to attack the skin and connective tissues. This attack causes a build-up of fibrous scar tissue that makes the skin or connective tissue feel hard and inflexible.
Because systemic sclerosis has a variety of features, your treatment plan will be tailored just for you. There are effective treatments available that can help relieve the symptoms of systemic sclerosis that bother you. Although they do not cure the disease, they can make living with systemic sclerosis more comfortable.
There are a number of treatment options available depending on what bothers you and what organs are involved. Therapy such as range of motion of your hands and physical or occupational therapy to improve hand function with aids, splints etc. are important for many patients. Preventive strategies also play an important role in managing systemic sclerosis.
Fatigue is a common symptom in people with systemic sclerosis and it is unfortunately one of the most difficult symptoms to treat. Patients are advised to learn how to balance the demands in their life with their need to rest.
Medications that Relax Blood Vessels and Treat Raynaud’s Phenomenon
Medications that relax the blood vessels (i.e. dilate them, decrease spasm) can be helpful for the symptoms of Raynaud’s. They can decrease the number of Raynaud’s episodes and possibly the severity of the Raynaud’s attacks.
Medications that relax the blood vessels can help to reduce high blood pressure. Examples include calcium channel blockers (Adalat). Medications called sildenafil (Viagra) or tadalafil (Cialis) are sometimes used in people with Raynaud’s Phenomenon to relax the muscles in the blood vessel walls to promote better circulation in the fingers and toes.
Other drugs that open or dilate blood vessels may be considered but there is a risk that they can cause low blood pressure (light headedness).
Topical drugs such as nitrates may also be considered.
When Raynaud’s is severe, an intravenous medicine called iloprost can be very effective to help heal sores on the fingertips and improve circulation in the hands and feet.
Medications for Heartburn, Acid Reflux, Bowel, and Digestive Problems
Medications called proton pump inhibitors or PPIs can help relieve symptoms of heartburn or acid reflux. They work by reducing the amount of acid produced by the stomach. They can also help relieve symptoms of burning in the swallowing tube or upper belly area, indigestion, stomach upset, and nausea.
When the digestive tract is involved, medications that promote motility (muscle contractions that move things along) such as domperidone, prucolapride, and erythromycin might help. These stimulate the swallowing tube and small intestine (bowel) to increase the frequency of muscle contractions that move things along through the digestive system. Motility agents can also help reduce symptoms of heartburn.
In patients where food sticks behind the breast-bone and/or there are problems having food transit down the entire swallowing tube, the medication domperidone might help, as well as a procedure that stretches or widens the lower end of the swallowing tube (called dilatation).
Antibiotics can decrease small bowel bacteria in patients suffering from bloating, early fullness, and diarrhea. Antibiotics do not alter the overall disease and are only recommended if there is an infection or overgrowth of bacteria in the small bowel.
Patients with SSc who are full early or are losing weight without trying due to gut issues should consult with their doctor. Increasing calorie intake can help by eating frequent small meals or by possibly using supplements such as high protein or calorie drinks.
Medications for Swollen and Inflamed Joints
Swollen and inflamed joints may be treated with the same medications that are used for people with rheumatoid arthritis. These include NSAIDs, analgesics, prednisone, and disease-modifying anti-rheumatic drugs (DMARDs).
Medications for Severe Cases with Organ Involvement (Immunosuppressants)
In more severe disease of SSc where there is organ involvement such as the lungs, kidneys, or heart, immune suppressing medications or potent Disease-Modifying Anti-Rheumatic drugs (DMARDs) may be used.
Living with SSc
The pain and stiffness caused by SSc can sometimes limit people’s normal activities, including work. There are many things people can do to lessen the impact of SSc on their work and daily routine.
We recommend adjusting features of the workplace to help make working with SSc easier. For example, people that sit for much of the day can adjust the position of chairs and desks for proper posture. Vehicle seats can be adjusted to make driving more comfortable and reduce stress on joints and affected tissues.
Those who find out they have SSc while they’re still young can consider choosing work that isn’t physically demanding on their joints and back.
Exercise is important to overall health. It also helps keep the joints moving properly, and helps protect them by strengthening the muscles around them.
The level and amount of exercise people with SSc can do depends on the activity of their disease.
A trained arthritis physiotherapist is the best person to help design an exercise program tailored to the needs of patients with SSc.
The following are some useful articles on exercising with arthritis:
Exercise and Arthritis: An article by arthritis physiotherapist Marlene Thompson
Exercising in a Flare: Another excellent article by Marlene Thompson on how to cope with flares through your exercise routine.
Alcoholic beverages are not an effective treatment for SSc, and they can interact with many medications.
People with SSc that plan on drinking should ask their doctor about possible negative interactions with the medications they take.
Some examples of medication that mixes poorly with alcohol includes, and is not limited to: the DMARDs methotrexate, Arava (leflunomide), and Imuran (azathioprine).
Smoking is not healthy for people with SSc. It can make symptoms worse and harder to treat.
Research has shown that some arthritis medications do not work as well in people who smoke.
We recommend that smokers quit immediately to reduce the impact of their symptoms, improve the effectiveness of their medications, and improve their overall health.
Smoking significantly increases the risk of cardiovascular disease. The chronic (long-term) inflammation caused by rheumatic diseases like SSc already increases this risk without a big extra boost from smoking.
Travel is still possible when you have SSc.
It is best for people with this disease to get organized well in advance of a trip to ensure a smooth, comfortable, and enjoyable time.
Check out our Travel Checklist page.
Though SSc does not particularly cause a loss of sex drive, it can cause pain, fatigue and emotional hardships. These hardships risk creating barriers to sexual needs, ability, and satisfaction.
People with SSc can take comfort knowing that sex and intimacy can be maintained. In many cases, it can help draw partners closer together, especially through improved communication.
For more information on intimacy and arthritis, a great book is: Rheumatoid Arthritis: Plan to Win by Cheryl Koehn, Taysha Palmer and John Esdaile.
Systemic Sclerosis (Scleroderma) (SSc) has no effect on fertility. The chances of getting pregnant for people with SSc are the same as with people that don’t have it. SSc also has no known effects on the developing fetus or the newborn.
The two main issues doctors worry about with SSc and pregnancy are:
Patients with SSc might be treated with a number of medications that can affect pregancies including NSAIDs, anti-TNF biologics, and occasionally DMARDs. It is important for people with SSc who want to become pregnant to discuss their medications with their doctor and create a pre-pregnancy plan. A plan is important for a number of reasons. For example, discontinuing a particular medication for safety of the newborn might cause SSc to flare, so its wise to have a plan in place to handle these possibilities.
Any type of arthritis that affects the pelvis or the hips can make vaginal delivery difficult. It is important for those planning pregnancy to discuss delivery options with an obstetrician.
Following the basics of healthy eating can help improve health and well-being in everyone, including those with SSc. Keeping a healthy weight helps reduce the load on weight-bearing joints including the spine, hips, and knees, making it easier to live with the disease.
Unfortuantely, no special diet has ever been proven to significantly alter the course of SSc or any other types of arthritis.
In addition, no known natural remedies or complementary therapies have been proven to help SSc in any significant way.
People with SSc should consult with their doctor to make sure that any supplements or alternative therapies they consume will not negatively interact with their medications.
Its very important for people with SSc to attend regularly scheduled appointments with their rheumatologist, and promptly get any tests that are ordered by their doctors.
It is often very important that medications are taken exactly as prescribed. Patients should always talk to their doctor about any issues they experience, or if they would like to change anything.
Systemic Sclerosis (Scleroderma) is a chronic disease and a rheumatologist is the best partner in helping patients achieve the best quality of life possible.