Scleroderma - Diagnosis & Treatments

Scleroderma is referred to as a group of rare diseases of connective tissues, characterized by the hardening and tightening of the skin, spontaneous scarring, blood vessel disease, and varying degrees of inflammation. It is an autoimmune disorder, which means that it occurs when the body's tissues are attacked by the patient’s own immune system.

In scleroderma, there is a formation of scar tissue, called fibrosis, in the skin. This results in the thickness and firmness of involved skin. It may also affect the internal organs such as the kidney.
There are different types of scleroderma. In some people, it may affect only the skin while in others, scleroderma can also harm the structures beyond the skin, such as blood vessels, internal organs and the digestive tract, called systemic scleroderma.

The signs and symptoms of scleroderma may vary depending on the type of disease (localized or systemic) a person has.
Scleroderma - Diagnosis & Treatments

How is it diagnosed?

The diagnosis of scleroderma can be challenging sometimes. This is particularly because it may affect other parts of the body, such as the joints. Therefore, scleroderma can be initially mistaken for other conditions such as rheumatoid arthritis or lupus.

The doctor considers the family as well as personal medical history, along with the physical examination and several medical tests to diagnose scleroderma. The doctor aims to look for specific symptoms related to scleroderma, especially thickening or hardening of the skin around the fingers and toes or discoloration of the skin (paleness). When scleroderma is suspected, further tests are recommended to confirm the diagnosis and determine the severity of the disease.

The tests may include:

Blood tests: This is to check the elevated levels of certain immune factors, called antinuclear antibodies. These factors are found in around 95% of scleroderma patients. These antibodies may also be present in other autoimmune diseases such as lupus,  and they may not give a definitive diagnosis. However, testing for these antibodies in suspected scleroderma patients can help assist in making an accurate diagnosis.

Pulmonary function tests: These are performed to measure the functions of the lungs. If scleroderma is suspected in a patient or has been confirmed, this test is important to check whether it has spread to the lungs or not. Scleroderma causes scar tissue formation in the lungs which can be seen on an X-ray or computed tomography (CT scan).

Electrocardiogram: Scleroderma can lead to scarring in the heart tissue, which can result in congestive heart failure and defective electrical activity of the heart. An electrocardiogram can be performed to check whether the disease is affecting the heart.

Echocardiogram: This is an ultra-sonogram of the heart. The doctor recommends this test to be done once every 6 to 12 months. It helps in evaluating complications such as pulmonary hypertension and congestive heart failure.

Gastrointestinal tests: Scleroderma may affect the oesophagus muscles and walls of the intestine. This can cause problems such as heartburn and difficulty in swallowing, as well as affect the nutrient absorption and movement of food through the intestine. This includes endoscopy, a test in which a small tube with a camera attached on one end is inserted, to view the oesophagus and the intestines. Another test called a manometer can also be used to measure the strength of the oesophageal muscles.

Kidney function: Scleroderma can also affect the kidneys and result in increased blood pressure as well as the accumulation of protein into the urine. The most serious form of the disease, called scleroderma renal crisis, involves a rapid increase in blood pressure, causing kidney failure. The functions of kidneys can be assessed using certain blood tests.

Treatment of scleroderma

Currently, there is no cure for systemic sclerosis (scleroderma). The existing treatments are aimed at:
  • Relieving the symptoms
  • Preventing the condition from progressing further (as much as possible)
  • Detecting and treating the complications at an early stage
  • Minimizing any disability

Medications for the treatment of scleroderma symptoms are:

Skin changes: Steroid creams or pills are used to treat or slow the skin changes by reducing the swelling, joint pain and loosen stiff skin.

Dilate blood vessels: Blood pressure medications for dilation of blood vessels can help in preventing lung and kidney damage. It may also help treat Raynaud's disease.

Suppress the immune system: Immunosuppressive drugs, such as those given after organ transplants, help reduce certain scleroderma symptoms (as it is an auto-immune disorder).

Relieve gastrointestinal symptoms: Medicines to reduce heartburn and lower stomach acid are also used. Antibiotics and a special diet are also recommended to help move food through the stomach and intestines and also to reduce bloating, diarrhea and constipation.

Prevent infections: Antibiotics, cleaning and taking precautions against cold may help in preventing infection of fingertips and ulcers caused due to Raynaud's phenomenon.

Pain medications: Usually, Nonsteroidal anti-inflammatory drugs (NSAIDs) and over-the-counter pain relievers are recommended. But in case they don’t help enough, the doctor can prescribe stronger medications.

Physical therapy and stretching exercises are also used to help scleroderma patients:
  • Provide some relief from pain
  • Improve the strength and mobility of the limbs
  • Maintain independence while performing the daily tasks
Stem cell therapy for scleroderma is an upcoming treatment. The treatment is aimed at removing the faulty immune processes and reset or reboot the immune system to restore its natural healthy functions. Hematopoietic stem cell transplant (HSCs) or bone marrow transplant involves the use of tissue-specific stem cells (blood-forming stem cells in the bone marrow) for the treatment of systemic sclerosis. The goal of this scleroderma treatment is to arrest the fibrotic process that causes symptoms and reverse the immune malfunction.

Stem cell therapy for scleroderma in India is offered by many top hospitals with very effective results. Patients from all over the world travel to India for their treatment.
Author:

Dr. SuneetSingh holds a post-graduate degree in Hospital and Healthcare Management from Tata Institute of Social Sciences (TISS) and works as an International Patient Coordinator at Lyfboat.

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