天美传媒

Abstract

Gaucher disease, a genetic lysosomal storage disorder, is characterized by the accumulation of glucocerebrosides due to a deficiency in the enzyme glucocerebrosidase. This case report highlights a patient diagnosed with Gaucher disease who developed rare complications: gaucheroma and protein-losing enteropathy. The patient presented with abdominal distension, weight loss, and persistent diarrhea. Imaging studies revealed the presence of gaucheroma, which contributed to the gastrointestinal symptoms. A multidisciplinary approach was undertaken for management, including enzyme replacement therapy and nutritional support. This case underscores the importance of recognizing uncommon complications of Gaucher disease, which can significantly impact patient quality of life and management strategies. Early diagnosis and intervention are crucial in addressing these complications effectively.