This article highlights Gaucher Disease, a rare genetic disorder caused by GBA1 mutations, resulting in enzyme deficiency and glucosylceramide accumulation. It causes organ damage, especially in the spleen and liver. Diagnosis delays are frequent; treatment involves enzyme replacement therapy. Early diagnosis and multidisciplinary management are crucial for effective patient care. This article discusses Gaucher Disease, its diagnostic challenges and approach and touches on multidisciplinary management. MAT-ZA-2500623