Scleroderma: Rare Autoimmune Disease You Must Know About

Scleroderma is a rare and complex autoimmune disease that leads to the tightening and hardening of the skin and connective tissues. This condition, also known as systemic sclerosis, results from the body’s immune system mistakenly attacking its tissues, leading to excessive production of collagen. Collagen is a protein that provides structure and support to skin and organs, and its overproduction causes thickening and hardening, affecting not only the skin but sometimes internal organs such as the heart, lungs, and kidneys. 

What Is Scleroderma?

Understanding scleroderma requires exploring its types, causes, symptoms, and treatment options, all of which are crucial for improving the quality of life for those affected by the disease.

There are two primary forms of scleroderma: localized and systemic. Localized scleroderma mainly affects the skin and is generally less severe than its systemic counterpart. It tends to present in patches of thickened skin, with two key subtypes: Morphea and Linear Scleroderma. Morphea is characterized by patches of hardened skin, which may be white or discoloured, often localized to certain areas of the body. On the other hand, Linear Scleroderma typically involves a line or band of thickened skin, frequently affecting the arms, legs, or forehead. While localized scleroderma is usually limited to the skin, it can sometimes cause deeper tissue damage, although it does not typically involve internal organs.

In contrast, systemic scleroderma affects not only the skin but also various internal organs and is a more severe form of the disease. This form is further divided into two subtypes: Limited Systemic Scleroderma and Diffuse Systemic Scleroderma. Limited systemic scleroderma is sometimes referred to as CREST syndrome, an acronym representing the primary features of the disease: Calcinosis (calcium deposits under the skin), Raynaud’s phenomenon (reduced blood flow to fingers and toes in response to cold or stress), Esophageal dysfunction, Sclerodactyly (skin thickening on the fingers), and Telangiectasia (small red spots caused by dilated blood vessels). Limited scleroderma tends to progress slowly, and while it primarily affects the skin of the face, hands, and forearms, it can eventually involve internal organs.

Diffuse systemic scleroderma is more aggressive and progresses more rapidly than limited scleroderma. It causes widespread thickening of the skin and early involvement of internal organs such as the heart, lungs, kidneys, and gastrointestinal system. The rapid onset of diffuse scleroderma means that complications with internal organs can arise early in the course of the disease, making early diagnosis and treatment essential to improving outcomes.

Symptoms Of Scleroderma

The symptoms of scleroderma vary widely depending on the type and severity of the disease. For many individuals, the first sign is skin changes, such as thickening, tightening, and hardening of the skin. The skin may appear shiny and tight, and in some cases, these changes can lead to contractures, which limit joint mobility. Another common symptom is Raynaud’s phenomenon, which causes the fingers and toes to turn white or blue in response to cold temperatures or stress due to reduced blood flow. This condition can precede the development of scleroderma or occur as a symptom after diagnosis.

Digestive issues are also frequent in individuals with systemic scleroderma, as the disease can affect the gastrointestinal tract. These issues may include heartburn, difficulty swallowing, and problems with digestion or bowel movements. In more severe cases, pulmonary complications can arise, such as lung fibrosis (scarring of lung tissue) or pulmonary hypertension (high blood pressure in the lungs), which can lead to difficulty breathing and other respiratory symptoms. Kidney involvement is another potential complication, ranging from mild dysfunction to severe kidney failure, which can lead to high blood pressure and other serious health problems. Additionally, joint pain and muscle weakness are common symptoms, often resulting in reduced mobility and physical limitations.

Although the exact causes of scleroderma are not well understood, it is thought to result from a combination of genetic, environmental, and immune system factors. Certain genetic variations may predispose individuals to developing the disease, while environmental triggers, such as exposure to specific chemicals or infections, may contribute to its onset. The central feature of scleroderma is an abnormal immune response that causes the body to target its tissues, leading to inflammation and the overproduction of collagen. Women are significantly more likely to develop scleroderma than men, with most cases occurring in individuals between the ages of 30 and 50.

Diagnosing scleroderma involves a combination of clinical evaluation, laboratory tests, and imaging studies. Doctors typically begin with a physical examination to assess skin changes and blood tests are used to detect specific autoantibodies associated with the disease. Imaging techniques, such as X-rays or MRIs, may be employed to evaluate the involvement of internal organs. In some cases, a skin biopsy may be performed to confirm the diagnosis.

While there is currently no cure for scleroderma, treatments focus on managing symptoms, slowing the progression of the disease, and improving quality of life. Medications are commonly used to control inflammation and immune system activity, such as corticosteroids and immunosuppressants. Additionally, medications to manage specific symptoms, such as high blood pressure, digestive issues, or pain, are often prescribed. Physical therapy plays an important role in maintaining mobility and reducing joint stiffness, while lifestyle changes can help manage the disease's impact. For instance, patients are encouraged to manage stress, maintain a healthy diet, and avoid extreme temperatures to mitigate symptoms. In severe cases, surgical interventions may be necessary, such as procedures to treat gastrointestinal issues or lung fibrosis.

Living with scleroderma can be challenging, but many individuals manage their symptoms effectively with proper medical care, support, and lifestyle modifications. Emotional support from family, friends, and support groups can be invaluable, and patient education is crucial in helping individuals understand their condition and treatment options. Though scleroderma is a life-altering disease, advances in medical research continue to improve the outlook for those affected.

In summary, scleroderma is a complex and rare autoimmune disease characterized by the hardening and tightening of the skin and connective tissues. Its localized and systemic forms can range in severity, with systemic scleroderma being more likely to affect internal organs. Although there is no cure, understanding the symptoms, causes, and available treatment options is vital for managing the disease and enhancing the quality of life for patients.

Authored by Dr Dipti Patel, Consultant Rheumatologist, Wockhardt Hospital, Mumbai Central