Hardening Connective Tissue – The Disease of Scleroderma

A systemic sclerosis is a chronic autoimmune disease that affects the body’s connective tissues and can have severe consequences for the lives of those affected. During this disease, the connective tissues thicken and scar, which can impact the functioning of various organ systems, such as the lungs, heart, kidneys, and digestive system. The appearance of sclerosis not only deteriorates health but can also threaten the quality of life.

Estimates of the prevalence of the disease suggest that approximately 2.5 million people worldwide have been diagnosed with scleroderma, but due to the diversity of symptoms, many cases are misdiagnosed. This means that the actual number of affected individuals is likely even higher. To support undiagnosed patients and their families, the ‘World Scleroderma Day’ is held annually, aimed at raising awareness of the disease and accelerating diagnosis.

The name comes from the Greek words for “hard” (sclero) and “skin” (derma), as skin thickening is one of the most prominent symptoms. There are various forms of sclerosis that differ in terms of disease severity and the affected organ systems. The course of the disease varies from person to person, and early diagnosis is crucial for managing symptoms.

The symptoms of sclerosis and their recognition

Systemic sclerosis most commonly occurs in middle-aged women, although men and children can also be affected. Among the first signs of the disease are swelling of the skin on the fingers and toes, which can worsen with cold or stress. It is often observed that the fingers turn pale, become numb, and cause pain. Additionally, symptoms such as heartburn, difficulty swallowing, and shortness of breath may occur, which can worsen as the disease progresses.

Different forms of the condition can present with varying symptoms. In localized scleroderma, there is no impact on the internal organs, while the diffuse form can lead to extensive skin and organ lesions. Besides skin thickening, the disease can cause joint pain, muscle inflammation, and various internal organ problems. Because the symptoms are diverse and vary from person to person, diagnosing the disease is often challenging, leading to many cases being confused with other connective tissue diseases.

Early treatment and regular medical check-ups are considered extremely important, as monitoring the condition of patients living with systemic sclerosis can help prevent the development of more severe symptoms and avoid tissue damage.

The forms of scleroderma and their consequences

The different forms of scleroderma include localized and diffuse forms. The localized version typically has a milder course and does not affect the internal organs. In contrast, the diffuse form is associated with more serious skin and organ lesions, such as scarring in the lower esophagus, which can cause swallowing difficulties. Furthermore, scarring in the lungs can lead to respiratory problems, while kidney damage can cause high blood pressure.

The condition of the skin can also change significantly due to scleroderma: the skin becomes tight and shiny, and facial expressions may become stiff. It is common for patients to struggle with joint contractures due to skin scarring, meaning that the joints cannot fully open. Additionally, heart problems, such as heart failure and arrhythmias, may occur, further exacerbating the condition.

Since scleroderma is often misdiagnosed, the treatment options encompass a wide range. Establishing a diagnosis requires medical examinations and a thorough evaluation of the skin and internal organs. Treatment usually necessitates collaboration among multiple medical specialties, meaning that patients often have to visit several specialists.

Future prospects and treatment options

Genetic factors may also play a role in the development of systemic sclerosis, but the exact causes are not yet fully understood. Currently, numerous studies are underway to understand and treat the disease. The goal is to establish early diagnosis and develop more effective treatment options. New laboratory procedures now allow for the early detection of the disease, which is crucial for reducing symptoms.

The VEDOSS (Very Early Diagnoses Clinics for Systemic Sclerosis) clinics aim to ensure that those suffering from systemic sclerosis receive a diagnosis as soon as possible across Europe. Such initiatives play an important role in early detection, which is essential for slowing the progression of the disease.

For scleroderma patients, home remedies can also help alleviate symptoms. Wearing warm gloves and socks, engaging in regular exercise, and properly caring for the skin can contribute to maintaining circulation and improving skin condition. Quitting smoking is also essential, as nicotine worsens circulation and can exacerbate symptoms.

Although sclerosis is currently incurable, the ongoing research process and the continuous development of treatment options may provide hope for those affected. Early diagnosis and appropriate treatment are crucial for improving the course of the disease and maintaining quality of life.