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Safety & Wellness

Scleroderma: Diagnoses and Tests

November 06, 2023

Scleroderma, also known as systemic sclerosis, is a group of rare diseases that involve hardening and tightening of the skin and connective tissues. It is an autoimmune disease, meaning the body’s immune system mistakenly attacks the normal, healthy cells. The attack range differs from affecting only the skin to many systems in the body. This is due to build up of extra collagen (a protein) in the skin and other organs, leading to signs and symptoms. At a serious stage, scleroderma can damage your blood vessels and internal organs such as the heart, lungs, and kidneys. As of now, there is no treatment available; however, only the symptoms' severity can be managed. 


Scleroderma types

There are mainly two types of scleroderma: localized and systemic. 


Localized scleroderma (also called morphea): This type only affects the skin and no vital organs, while some sub-types may also affect tissues under the skin, such as muscle and bone.


Systemic scleroderma: This type affects the skin and many tissues or systems under it, including blood circulation and organs such as the gastrointestinal tract, heart, lungs, or kidneys. 

Both types of scleroderma may improve on their own with time; however, some types worsen and lead to complications causing life-threatening problems. 


Causes of scleroderma

Scleroderma has no known cause. It is thought to occur due to a malfunctioning immune system and a combination of genetic and environmental triggers.


Risk factors for scleroderma

Anyone can get scleroderma. However, having certain factors or parameters can increase your likelihood of its occurrence. These include:


•Sex: Scleroderma is more common in women than men. 


Age: Typically, the disease is diagnosed between ages 30–50, and most symptoms show up before the age of 40. It is more common in adults than in children.


Race: The disease can affect any race; however, it is reported to occur severely in African Americans.


• Environmental exposure: Exposure to certain environmental influences definitely increases the risk of developing the disease in some people when compared to others. It has been found that men who have been exposed to silica appear to have a higher risk of scleroderma.


• Genetics: Scleroderma is a complex genetic disease. For people with certain genetic variations, it can increase their likelihood of developing scleroderma. However, this disease is not hereditary.


Symptoms of Scleroderma

Signs and symptoms may vary from person to person depending on the affected body part. These may include:


• Skin-related problems (thickening and swelling of fingers; pale fingers due to Raynaud’s phenomenon; darker skin areas; calcium bumps and sores on fingers)


Joint-related problems (stiffness, joint pain, and limited mobility due to thickening of skin)


Heart and lung problems (shortness of breath; excess fluid build up in legs, feet, and sometimes around heart; irregular heartbeats; heart failure)


• Kidney-related problems (high blood pressure affecting kidneys)


• Digestive problems(heartburn, difficulty swallowing, bloating, diarrhea, and constipation)


Early signs of scleroderma include the thickening of the skin on your fingers and toes (due to extra collagen). The thickening can spread to the elbows, arms, legs, and face. The skin on fingers usually become very sensitive to cold or even changes colour due to cold or emotional stress and becomes swollen (commonly known as Raynaud’s phenomenon). This could happen due to the narrowing of blood vessels as extra collagen damages the blood vessels.

People who have scleroderma may also experience symptoms of other autoimmune diseases, such as rheumatoid arthritis, lupus, or Sjogren's syndrome.


Diagnosis and tests

After a thorough physical examination and going through your medical history, if the doctor suspects any signs of scleroderma, he would order a set of diagnostic tests, such as:


1. Blood tests: These include


Antinuclear antibody (ANA) testing is the most important blood test for scleroderma. This test detects the presence of autoantibodies (blood proteins) in the blood. A positive ANA test confirms scleroderma. However, our bodies can release autoantibodies for different reasons or factors. So, your healthcare provider may order further testing to confirm if it is scleroderma or any other autoimmune disorder. Similar is the case for a negative ANA result; people with localized scleroderma show a negative ANA and hence would require further tests to validate it.


Blood tests to examine the function of kidneys. When scleroderma affects the kidneys, it can cause an increase in blood pressure, harming the kidneys, and release of protein in the urine. This is also called scleroderma renal crisis.


Blood work may also include tests such as complete blood cell count (CBC), serum muscle enzyme levels, erythrocyte sedimentation rate (ESR), C-reactive protein, etc.


2.Nailfold Capillary Test: This test looks for physical changes in your nails, also known as abnormal nailfold capillaries, which is considered one of the early and hallmark symptoms of scleroderma. Nailfold capillaroscopy is the machine used to test for this abnormality. This machine shows if your nails’ capillaries are larger than normal or even bleeding, all signs of vascular conditions caused by the presence of scleroderma. This method holds great importance for evaluating scleroderma patients. 


3. Skin tests: A dermatologist may perform a skin biopsy to examine the hard and thickened areas of your skin.


4. Imaging tests: These include,

X-ray or computed tomography (CT scan) to detect any lung damage (scarring).


Electrocardiogram to check the electrical activity of heart and look for signs of scarring that may lead to heart failure.


Echocardiogram to check for any signs of pulmonary hypertension (high blood pressure that affects the arteries of the lungs and the heart).


Endoscopy (insertion of a thin tube with a camera) is used to examine the muscles of the esophagus and walls of the intestine.


Scleroderma Treatment

There is no permanent cure for scleroderma; doctors provide various therapies to manage and ease the symptoms. Treatment depends on the severity of symptoms, including


Medications: A wide range of medications are used to elevate the patient’s symptoms.


• Pain relievers to ease pain in muscles, joints, and tendons.


• Topical skin medications to prevent the skin from drying out and improve blood circulation.


• Medications to suppress the immune system and improve lung function.


• Digestive remedies to help improve digestive problems (heartburn, etc.).


• Medications or dialysis to treat kidney-related problems of scleroderma.


• Anti-inflammatory drugs to help with joint pains. 


• Calcium channel blockers are given to treat Raynaud’s phenomenon by dilating blood vessels.


• Artificial tears or medicated eye drops (in the case of Sjogren’s syndrome).


Therapies: This involves physical therapy (shoulders, elbows, wrists, neck, fingers, and back stretches)


Self-care: This includes gently washing hands and applying moisturizer regularly.


Identifying symptoms early on and seeking medical advice can help in the treatment of scleroderma. Lifestyle modifications, including exercise, diet, skin protection, joint protection, stress control, and proper dental care, aid in the management of the disease. Tests such as Antinuclear antibody (ANA) test are primary diagnostic tests for determining if or not you have scleroderma.  


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