Systemic sclerosis (scleroderma) – The disease and its signs

The scleroderma is a rare but serious autoimmune disease that can affect multiple organs and threatens the function of internal organs in addition to skin lesions. The development of the disease is insidious and is often detected late, as symptoms appear gradually. Scleroderma Awareness Day serves to draw attention to this disease and to strengthen collaboration between society and healthcare professionals.

Scleroderma not only causes skin problems but can also severely affect the gastrointestinal tract, lungs, heart, and kidneys. The disease is characterized by excessive activity of connective tissue cells, known as fibroblasts, leading to a significant increase in collagen production. This process can lead to various organ lesions, which can result in life-threatening conditions if not properly treated. Scleroderma is more common in women, and understanding and managing the disease is crucial for improving patients’ quality of life.

The symptoms and risks of scleroderma

The first signs of scleroderma often appear on the skin, but the real danger lies in the involvement of internal organs. The skin lesions, which are characteristic symptoms of the disease, are first observed on the fingers and then gradually spread upwards to the forearm, upper arm, and face. In the late stages, the skin on the abdomen, chest, and legs may also become affected. One of the most common accompanying phenomena of the disease is Raynaud’s phenomenon, during which the fingers turn white and then red, primarily in response to cold.

Due to the thickening and tightening of the skin, the fingers may become deformed, leading to restricted movement. Additionally, painful ulcers may appear on the fingertips and other areas, such as around the face and ears. Changes in skin color, such as pigment loss and telangiectasia, can also be observed. As the disease progresses, facial movements become restricted, resulting in a smaller mouth opening.

Scleroderma not only causes skin problems but can also severely affect internal organs. Gastrointestinal symptoms appear in 80-85% of patients, complicating nutrition and digestion. The lungs can also be severely affected by the disease, leading to pulmonary fibrosis, which causes respiratory problems. Cardiac involvement is also common, accompanied by pericarditis and arrhythmias. Kidney damage increases the risk of renal failure.

The internal organ involvement in systemic sclerosis

The internal organ involvement in scleroderma can have serious consequences. Gastrointestinal problems include thickening of the esophageal wall, making it difficult to properly transport solid food. This process is exacerbated by the rigidity of the stomach and intestinal walls, which hinders nutrient absorption. As a result, patients may face nutritional issues and various gastrointestinal complications.

Pulmonary fibrosis, which occurs in half of the patients, causes breathing difficulties and places a significant burden on the heart as the disease progresses. Collagen accumulation in the heart muscle can lead to arrhythmias and cardiomegaly. Kidney involvement is also concerning, as parts of the kidney can necrotize due to the disease, leading to kidney damage. A decrease in tear and saliva production can cause numerous inconveniences in daily life.

Specialists rely on quick diagnosis based on skin symptoms, laboratory tests, and the presence of autoantibodies. A skin biopsy can also assist in establishing an accurate diagnosis if clinical symptoms are not clear.

Treatment options for scleroderma

The treatment of scleroderma focuses on alleviating symptoms and slowing the progression of the disease. Immunosuppressive agents, such as cyclophosphamide, methotrexate, and azathioprine, are among the most common treatment options, especially in cases of respiratory involvement. Additionally, steroids may be used to reduce inflammation.

To alleviate the symptoms of Raynaud’s phenomenon, vasodilators such as pentoxifylline and nifedipine can be effectively used. Patients are advised to protect their hands from the cold and to regularly perform exercise routines to prevent joint stiffness, even if they are struggling with painful skin lesions.

As symptomatic treatment, proton pump inhibitors and antihypertensives can also be used, as well as antibiotics in cases of pneumonia. Providing psychological support to patients is also exceptionally important, as the limitations in movement and changes in external appearance resulting from the disease can impose significant psychological burdens on patients.