Systemic sclerosis associated genetic factors in a case report context

Abstract

Introduction: Systemic sclerosis (SSc) is an autoimmune rheumatic disease that affects the gastrointestinal system, renal system, and lungs and causes fibrosis on the skin's surface. It is important to identify genetic factors that influence gene polymorphisms, which enable a correlation with the disease's symptoms. Therefore, the role of interleukin 10 (IL-10), which has anti-inflammatory functions, stands out and should be studied to gain a deeper understanding of the pathophysiology of SSc and new perspectives for effective therapy. Objective: To report a clinical case of systemic sclerosis in an adult patient, associating genetic alterations, clinical data, and imaging studies. Case report: A 45-year-old male patient presented with polyarthralgia (joint pain) and weight loss. He sought medical attention and, through laboratory tests, was diagnosed with Systemic Sclerosis. Treatment continues with medications that alleviate discomfort and slow the autoimmune system's action. Discussion: This case highlights the problems affecting the patient's lungs, characterized by bilateral lung involvement predominantly in the middle and lower lung regions, characterized by peripheral reticularities, ground-glass opacities, and traction bronchiectasis/bronchilosectasis. Treatment primarily includes immunosuppressants. Conclusion: This study highlights the importance of correlating genetic factors with the patient's symptoms to better understand and implement positive treatment.