| Abstract [eng] |
Endocrine ophthalmopathy (EO) is an autoimmune inflammatory disorder of the orbit and the most common extrathyroidal manifestation of Graves’ disease. The condition presents with a broad spectrum of clinical manifestations, ranging from mild, nonspecific ocular symptoms to sight-threatening complications. Although EO most frequently occurs in association with hyperthyroidism, it may also develop in patients with hypothyroidism or euthyroidism, which can complicate and delay diagnosis. This thesis presents a narrative literature review addressing the epidemiology, etiology, pathogenesis, clinical features, as well as diagnostic and therapeutic aspects of EO, along with an illustrative clinical case study. Current evidence indicates that the development and course of EO are determined by a multifactorial interplay of genetic, immunological, and environmental factors. Among these, the most clinically relevant modifiable factors are smoking and thyroid dysfunction. The pathogenesis of EO is driven by autoimmune mechanisms within orbital tissues, in which thyroid-stimulating hormone receptor antibodies activate orbital fibroblasts, promoting glycosaminoglycan accumulation, tissue edema, adipogenesis, and fibrosis. Clinically, EO manifests with features such as eyelid retraction, proptosis, diplopia, ocular pain, and visual impairment, which may progressively lead to significant deterioration in patients’ quality of life. Due to its often nonspecific onset, diagnosis is frequently delayed. Diagnostic evaluation is based on clinical assessment, determination of disease activity and severity, and, when indicated, immunological and imaging studies. Management is individualized according to disease activity, severity and clinical phenotype. The presented clinical case illustrates an atypical manifestation of EO in a patient who developed the disease in a euthyroid state following previously treated hypothyroidism, which contributed to delayed diagnosis. The patient was diagnosed with active moderate-to-severe EO and treated with a 12-week course of high-dose intravenous glucocorticoids in combination with mycophenolate mofetil. Treatment resulted in clinical remission, reduction in disease activity and proptosis, and improvement in quality of life. The case discussion highlights diagnostic challenges related to nonspecific ophthalmological symptoms and atypical disease presentation, as well as the effectiveness of the selected treatment approach. |
