Systemic Sclerosis (Scleroderma)

Rheumatology Now

Systemic sclerosis (SSc) is also known as scleroderma. It’s an autoimmune connective tissue disease. While the exact cause isn’t well understood, the body’s immune system begins to attack its own skin and connective tissues.

There are two types of systemic sclerosis: limited and diffuse. In patients with scleroderma, the skin becomes hardened due to a build-up of fibrous scar tissue, which causes a tight and shiny appearance.

This rare disease most commonly affects the fingers. However, many other connective tissues or organs such as the kidneys and lungs can be affected. In patients with diffuse systemic sclerosis, skin involvement may only affect the lower parts of the arms, legs, face and neck. If someone has diffuse scleroderma, more areas of the body are affected.

 

Who Gets Systemic Sclerosis?

Systemic sclerosis is very rare disease, affecting approximately 1 in every 100,000 people. While it can start at any age, about 90% of patients with scleroderma are women aged between 40 and 60 years.

Symptoms of Systemic Sclerosis

Systemic sclerosis can cause many different symptoms. In patients with the limited form of scleroderma, only the skin of the fingers, face and neck may be affected. Or, skin involvement may be limited to the lower arms and legs.

If patients have the diffuse form of scleroderma, more areas may be affected, generally quite suddenly. Skin involvement may be widespread, affecting the back, thighs, trunk and upper arms.

Skin Changes

As the skin tightens, it begins to take on a shiny appearance. If the skin around the mouth is affected, it can be hard for a patient to open and close the mouth.

Another scleroderma symptoms is a loss of pigment in some areas, and increased pigmentation in others.

Raynaud’s Phenomenon

Nearly all patients with systemic sclerosis have Raynaud’s phenomenon, which causes the blood vessels in the hands and feet to constrict in cold temperatures, which reduces blood flow. As a result, the fingers and toes (or the tips of them) turn white and then blue and/or red in the cold. In some cases, painful ulcers develop on the fingertips.

In patients who have the limited form of systemic sclerosis, Raynaud’s typically begins years before any skin symptoms appear.

Hypertension

Also known as high blood pressure, hypertension can damage a patient’s kidneys. If someone’s blood pressure rises suddenly, it can be a medical emergency.

Especially if a patient has the diffuse type of systemic sclerosis, it’s crucial to closely monitor blood pressure.

Lung Problems

In some patients, the lungs can be affected by systemic sclerosis, leading to pulmonary hypertension or interstitial lung disease. Scleroderma can cause inflammation of the lung tissue, which may scar the lungs. This is known as pulmonary fibrosis.

Other patients suffer from pulmonary hypertension, which includes fibrosis and narrowing of the blood vessels throughout the lungs. This causes high blood pressure in the lungs, then occurs, straining the heart.

Esophageal Problems

The esophagus is the tube that connects the mouth to the stomach. If scleroderma affects the esophagus, patients may experience heartburn, bloating and difficulty swallowing.

If other parts of the digestive tract such as the bowel are affected, a person may have trouble digesting food. Too many bacteria can grow in the small bowel and lead to bloating, constipation or diarrhea.

Fatigue

Because the body’s immune system is fighting itself, people with scleroderma often feel very tired.

Inflammation of Joints & Tendons

Known as inflammatory arthritis, patients with systemic sclerosis, can cause inflammation of the joints and tendons.

Carpal Tunnel

One of the symptoms of scleroderma can be swelling at the wrist, which compresses a nerve causing numbness and tingling of the fingers (carpal tunnel).

Telangiectasia

As small blood vessels become damaged due to scleroderam, the body tries to make new ones, causing the appearance of tiny red dots on the fingers, palms of the hands and around the mouth.

Diagnosis of Systemic Sclerosis

To make the diagnosis of systemic sclerosis, a doctor will examine your medical history, perform a physical examination and order blood tests. Scleroderma is usually diagnosed by a rheumatologist, a type of physician who specializes in arthritis and autoimmune diseases. There isn’t one test that can diagnose systemic sclerosis, so a number of common tests are usually performed.

Blood Tests

A rheumatologist will often use blood tests to make the diagnosis of scleroderma, including:

Complete Blood Count (CBC): By examining red blood cells, white blood cells, and platelets Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP), inflammation may be detected.

Anti-nuclear antibody test (ANA): The majority of people with systemic sclerosis have a positive anti-nuclear antibody. This test helps the rheumatologist look for antibodies that attack the body, and may predict which type of scleroderma a person has (limited or diffuse).

Creatinine test: By looking at your kidney function, a rheumatologist can determine if there are abnormally high levels of creatinine, which can indicate that your kidneys are involved.

Creatine Kinase (CK) test: This test looks for high levels of muscle enzymes in the blood, which can indicate that muscle tissue is inflamed.

Extractable Nuclear Antigen (ENA) Panel: This panels looks for antibodies that attack certain proteins within the body.

Other Tests

Urine Tests

A rheumatologist will also commonly order urinalysis testing, which may detect protein or blood in the urine. If protein or blood in the urine are detected, it can mean that the kidneys are involved.

Scans

Scans may be another effective way to diagnose systemic sclerosis, including:

  • Chest x-ray and/or CT scans to look for lung involvement
  • Echocardiograms to check the health of the heart

Pulmonary Function Tests

These breathing tests can check how well your lungs are working and if your lungs are involved in the diagnosis of scleroderma.

Nerve Tests

Electromyography or nerve conduction studies may indicate nerve involvement.

Skin Biopsy

Because systemic sclerosis involves the skin, a small sample of tissue may be taken for analysis.

Treatment of Scleroderma

Depending on your symptoms, there are a number of treatments available for systemic sclerosis, including:

Medications for Raynaud’s

In many patients, medications that relax the blood vessels can reduce the symptoms and severity of Raynaud’s phenomenon. An added benefit of these medications is reduced high blood pressure. Options include:

  • Calcium channel blockers such as Amlodipine, Felodipine and Nifedipine
  • Tadalafil (Cialis)
  • Sildenafil (Viagra)

In some cases, topical drugs such as nitrates may be effective. If you have severe Raynaud’s, your rheumatologist may prescribe an intravenous medicine called iloprost to help improve circulation and heal sores on the fingertips.

Medications for Esophageal Problems

There are medications called proton pump inhibitors (PPIs) that can help relieve symptoms of acid reflux and heartburn. These can also help reduce symptoms of nausea and indigestion.

If your digestive tract is affected by systemic sclerosis, medications that help move food through the digestive system and decrease heartburn can help. These medications may include domperidone, erythromycin and prucolapride. In more severe cases, a procedure called dilatation, which stretches the lower end of the swallowing tube, may be effective.

Medications for Inflamed & Swollen Joints

Similarly to rheumatoid arthritis, scleroderma may respond to non-steroidal anti-inflammatory drugs (NSAIDs), analgesics, disease-modifying anti-rheumatic drugs (DMARDs) and prednisone.

Medications for Severe Cases

If there is organ involvement (e.g., kidneys, lungs, heart) a patient may benefit from disease-modifying anti-rheumatic drugs (DMARDs) or immune suppressing-medications.

Antibiotics

While not a long-term solution, antibiotics may be prescribed to decrease small bowel bacteria in patients experiencing diarrhea and bloating.

Physical Therapy

By doing certain exercises and stretches, you may be able to improve your range of motion and hand function.

Systemic Sclerosis (Scleroderma)

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