GAUCHER DISEASE AND THE DIFFICULTY IN ITS DIAGNOSIS

Abstract

Gaucher Disease is a rare metabolic disorder caused by the deficiency of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in organs such as the spleen, liver, bone marrow, and central nervous system. Early identification of GD is challenging due to nonspecific symptoms and a lack of awareness among healthcare professionals. This study aims to understand the factors influencing the diagnosis of this disease, providing practical recommendations to improve both diagnosis and clinical outcomes. The study evaluated the effectiveness of diagnostic methods for GD and explored recent advances in early detection and disease management using a multidimensional approach, including a literature review, analysis of clinical data from patients diagnosed between 2014 and 2024, and an evaluation of technological innovations in the field. The literature review and clinical data analysis revealed that type 1 GD is the most prevalent, particularly among Ashkenazi Jews, often presenting with hepatosplenomegaly. The study highlighted the importance of enzyme replacement therapy (ERT) in managing GD, significantly improving clinical symptoms. Recent technological advances, such as new genotyping techniques and neonatal screening, have the potential to revolutionize the diagnosis of GD. However, the centralization of healthcare services and the lack of awareness about the disease remain significant challenges. Despite advances in understanding and detecting GD, the clinical complexity and variability of presentations continue to pose significant challenges. Investing in continuing education in genetics for healthcare professionals and decentralizing genetic services are essential to optimize early identification and appropriate treatment, resulting in better clinical outcomes for patients with GD.