Diseases

Systemic Sclerosis (Scleroderma)

Systemic Sclerosis (SSc) or 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 by the disease is the fingers, however many other areas can be affected. In some cases other connective tissues or organs such as 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 is more widespread.

Raynaud’s Phenomenon

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.

Autoimmune Disease

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.

Who Gets Systemic Sclerosis

Systemic Sclerosis 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.

Understanding Systemic Sclerosis

Symptoms

Systemic sclerosis or scleroderma 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 limited form patients may have had symptoms for many years such as Raynaud’s Phenomenon.

In the diffuse form, skin involvement can be far more widespread and can also affect the trunk, back, thighs, and upper arms. The diffuse form tends to appear more suddenly often times with the acute onset of swollen sore hands along with Raynaud’s.

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 the mouth. The fat under the skin can disappear so cheeks can look hollow.

Lung problems (pulmonary hypertension or interstitial lung disease)

Systemic sclerosis can affect other organs. In some people, 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, called pulmonary fibrosis.

The second is fibrosis and narrowing of the blood vessels running through the lungs, called pulmonary hypertension. This causes high blood pressures in the lungs which can put a strain on the heart.

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 monitor 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, 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 systemic sclerosis 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

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.

Other Symptoms

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.

Diagnosis

Systemic Sclerosis is best diagnosed by a rheumatologist, a type of doctor that specializes in arthritis and autoimmune disease.

To diagnose the disease, a doctor 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 the diagnosis.

Common Tests 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:

Blood Tests

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 anti-nuclear antibody test 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 Creatine Kinase can mean that muscle tissue in the body is inflamed.

Urine Tests

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 (Breathing) Tests

Pulmonary function tests are breathing tests that are performed to check how the lungs are working, and can help determine if the disease is affecting this organ.

Scans

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 (Tissue Sample)

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.

Nerve Tests

Looking for nerve involvement: Electromyography or Nerve Conduction Studies can be performed to look for nerve involvement.

Causes

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.

The immune system’s attack causes a build-up of fibrous scar tissue that makes the skin or connective tissue feel hard and inflexible.

Treatments

Because systemic sclerosis has a variety of features, treatment plans are tailored to the individual patient.

There are a number of treatment options available depending on what symptoms are problematic 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 (Nifedipine, Amlodipine, Felodipine). 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 systemic sclerosis 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 non-steroidal anti-inflammatory drugs (NSAIDs), analgesics, prednisone, and disease-modifying anti-rheumatic drugs (DMARDs).

Medications for Severe Cases with Organ Involvement (Immunosuppressants)

In more severe disease of systemic sclerosis 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.