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What is scleroderma? -

Scleroderma is an autoimmune disease where the immune system produces excessive amounts of collagen, leading to the hardening and thickening of skin and organs.

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How common is scleroderma? -

The condition is generally rare. In the US, for instance, it affects approximately 250 individuals in a million.

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Who’s at risk? -

Scleroderma is four times more common in females than it is in males. Patients are usually aged between 35 and 55. Children may also develop the disease, but it’s less common.

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Forms of scleroderma -

The disease manifests through two major forms: localized and systemic scleroderma. Systemic scleroderma is then divided into two main types: diffuse and limited. Let’s take a look at all of them.

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Systemic: localized scleroderma -

Localized scleroderma is the more common form of the condition. It only affects the skin, and usually in just a few specific areas. It usually manifests in the form of waxy patches or streaks on the skin. Localized scleroderma can sometimes disappear without treatment.

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Systemic: diffuse scleroderma -

Diffuse scleroderma, on the other hand, affects multiple areas of the body. It too can affect the skin, but it can also affect internal organs, such as the lungs and kidneys. Systemic scleroderma is therefore a more serious form of the disease.

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Limited scleroderma -

Limited scleroderma is also known as CREST syndrome. The letters stand for Calcinosis (calcium deposits in the skin), Raynaud's phenomenon (cold/numbness of feet and toes), Esophageal dysmotility (difficulty swallowing), Sclerodactyly (skin tightening on the fingers), and Telangiectasias (red spots on the skin).

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Symptoms of limited scleroderma -

People who suffer from limited scleroderma only experience skin thickening of the fingers, hands, and forearms, and occasionally the feet and legs.

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Symptoms of limited scleroderma -

Patients with limited scleroderma don’t experience kidney problems (more on that later). As for other organs, it affects mostly the esophagus and the lungs, and can lead to pulmonary hypertension.

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Causes -

Like many other autoimmune diseases, the exact cause of scleroderma is unknown. In some rare instances, there might be a genetic predisposition for it, but most cases have nothing to do with family history. The condition is not contagious.

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Other symptoms of scleroderma -

While thickening of skin is the main symptom overall, there are many other symptoms associated with the disease. Let’s take a look at them now.

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Other symptoms of scleroderma -

Scleroderma can cause swelling of the hands and feet, red spots may appear on the skin (telangiectasias), as well as excessive calcium deposition in the skin (calcinosis) and pain and stiffness of the joints.

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Other symptoms of scleroderma -

Ulcers may also form on the fingertips and toes, and facial skin may feel tight. Shortness of breath, cough, difficulty swallowing, and heartburn (acid reflux) may also occur.

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Other symptoms of scleroderma -

Scleroderma can also cause digestive and gastrointestinal problems, including constipation. Weight loss, hair loss, and fatigue may also be experienced by patients.

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Raynaud's phenomenon -

Many patients with scleroderma also experience Raynaud's phenomenon. This is when certain body parts become cold and numb and may change colors. It usually affects the fingers and toes.

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Sjögren's syndrome -

People with scleroderma may also experience Sjögren's syndrome. This is when the immune system destroys moisture-producing glands, leading to dry mouth and eyes.

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Diagnosis -

Diagnosis of scleroderma is not easy, as it shares many symptoms with other autoimmune diseases. A review of one's medical history and a few exams are usually the first course of action.

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Diagnosis: blood tests -

Blood tests are done to evaluate the amount of antinuclear antibodies in the blood. The vast majority of patients with scleroderma have high levels.

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Diagnosis: pulmonary function -

These tests are done to assess lung function. The disease can spread to the lungs, and lead to scar tissue forming in the organs. A CT scan or X-ray is usually performed to rule out any pulmonary damage.

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Diagnosis: heart -

Both an electrocardiogram and an echocardiogram can be prescribed. The former to assess any changes in the heart’s electrical activity that may be caused by scarring, and the latter to evaluate any potential complications (e.g. congestive heart failure).

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Diagnosis: gastrointestinal tests -

Both the esophagus and the intestines can be affected by scleroderma, leading to a number of complications (e.g. heartburn). An endoscopy is sometimes performed to assess any damage. A manometry (a test to assess the strength of the muscles in the esophagus) can also be prescribed.

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Diagnosis: kidney function -

Scleroderma can affect the kidneys and lead to an increase in blood pressure. A scleroderma renal crisis can actually result in kidney failure, so it’s important to stay on top of kidney function through blood tests.

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Treatment: skin -

There is no cure as such for scleroderma, but symptoms are mostly treatable. Topical medications are often efficient in the treatment of localized scleroderma.

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Treatment: skin -

These may include moisturizers to prevent and treat dry skin. Nitrates such as nitroglycerin can also be prescribed to improve blood flow, thereby accelerating the healing process.

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Treatment: digestive remedies -

Symptoms such as heartburn and other digestive issues are usually treated with medication. These may include antacids, proton pump inhibitors, and H2 receptor blockers.

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Treatment: lung disease -

Patients who develop pulmonary fibrosis (scarring in the lungs) may be prescribed cyclophosphamide, a drug often used to suppress the immune system as part of chemotherapy.

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Treatment: lung disease -

For patients who develop pulmonary hypertension, an IV infusion of epoprostenol (a prostaglandin) may be part of treatment. A subcutaneous infusion of treprostinil (a related prostaglandin) may also be prescribed. Prostaglandins are hormone-like substances that help with the healing process.

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Treatment: joints -

Anti-inflammatory drugs are usually prescribed to help ease joint pain and swelling caused by scleroderma.

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Treatment: Raynaud's phenomenon -

Patients who develop Raynaud's phenomenon are often treated with vasodilators such as calcium channel blockers, alpha blockers, nitroglycerine ointments, and sildenafil.

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Treatment: Sjögren's syndrome -

A number of treatments are available to help ease symptoms caused by Sjögren's syndrome. These include artificial teardrops and cyclosporine eye drops. For dry mouth, sipping on liquids and chewing gum may help.

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Treatment: kidney problems -

Depending on the severity of the kidney issues experienced by the patient, Angiotensin Converting Enzyme (ACE) inhibitors or dialysis may be necessary.

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Living with scleroderma -

People with scleroderma can benefit from exercising and consuming a healthy diet. Additionally, patients should pay particular attention to their skin (e.g. moisturizing it, protecting it from the cold and heat, etc.).

Sources: (Cleveland Clinic) (NHS) (National Scleroderma Foundation) (Mayo Clinic)

See also: The painful and debilitating condition that is arthritis

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