Nutritional management of a patient suffering with Gaucher's disease

A Case Report

Abstract

Gaucher disease is a rare inherited lysosomal storage disorder with multisystem involvement, commonly affecting the haematological, hepatic, and metabolic systems. This case report describes a 28-year-old Hindu female admitted to Mahatma Gandhi Medical College and Hospital, Jaipur, presenting with oral ulcers, fever, lower respiratory tract infection, weight loss, joint pain, pancytopenia, and impaired liver function, along with a past history of tuberculosis. Biochemical investigations revealed leukopenia, thrombocytopenia, anaemia, elevated liver enzymes, hypoalbuminemia, and electrolyte imbalance. Based on these findings, a beta-glucosidase leukocyte test was performed, confirming the diagnosis of Gaucher disease. The patient received symptomatic medical management, including antimicrobials, hepatoprotective agents, antiemetics, and nutritional supplements. Nutritional assessment showed undernutrition with a body mass index of 17.32 kg/m², low protein status, and excessive intake of empty calories. The patient was classified as Subjective Global Assessment grade B, indicating moderate malnutrition. A personalized nutrition intervention comprising a high-calorie, high-protein, and low-fat diet with micronutrient supplementation was implemented to address hypermetabolism, thrombocytopenia, impaired liver function, and bone health concerns. Monitoring during hospitalization demonstrated gradual improvement in dietary intake. At discharge, the patient was advised to continue the prescribed diet, lifestyle modifications, and regular follow-up. This case emphasizes the importance of early diagnosis and individualized nutritional management in improving clinical outcomes and quality of life in Gaucher disease.