Pathologic Femur Fracture in a Young Patient with Suspected Gaucher Disease: A Multidisciplinary Approach in the Diagnosis and Management of a Rare Condition

We present the case of an 18-year-old female patient with a history of pathologic right femur fracture in 2022, who was admitted to the emergency department for a diaphyseal fracture of the left femur secondary to a low-energy fall. Clinical, radiological and laboratory evaluation revealed findings suggestive of underlying systemic disease, including pancytopenia, splenomegaly and abnormal cellular features on bone marrow aspirate, compatible with a lysosomal deposition disease, specifically Gaucher disease. Management included open reduction and internal fixation of the left femur, along with multiple blood product transfusions due to refractory anemia. Despite surgical treatment, the patient presented postoperative complications, including persistent anemia and poor bone quality, suggesting a poor functional prognosis. This case highlights the importance of a multidisciplinary approach in the diagnosis and management of pathologic fractures in young patients, especially when underlying systemic disease is suspected. Diagnostic confirmation by measuring glucocerebrosidase enzyme activity is essential to establish specific treatment and improve long-term prognosis.