天美传媒

Gaucher disease; Gaucheroma; Protein-losing enteropathy; Enzyme replacement therapy; Lysosomal storage disorder; Gastrointestinal complications

Introduction

Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from mutations in the GBA gene, which encodes the enzyme glucocerebrosidase [1]. This enzyme deficiency leads to the accumulation of glucocerebrosides in various organs, particularly the spleen, liver, and bone marrow, resulting in a wide array of clinical manifestations. The disease is classified into three main types, with Type 1 being the most common and primarily affecting the non-neurological system. Patients often present with symptoms such as splenomegaly, hepatomegaly, anemia, and thrombocytopenia. Although the classic manifestations of Gaucher disease are well-documented, there are less common complications that can significantly impact patient health and quality of life [2]. Among these rare complications are gaucheroma, which refers to the formation of localized accumulations of Gaucher cells, and protein-losing enteropathy, characterized by excessive protein loss through the gastrointestinal tract. Both complications can lead to debilitating symptoms and require prompt recognition and intervention [3-6]. This case report presents a patient with Gaucher disease who developed both gaucheroma and protein-losing enteropathy, illustrating the challenges in management and the importance of a comprehensive approach to treatment.

Materials and Methods

This case study was conducted, focusing on a patient diagnosed with Gaucher disease who presented with gaucheroma and protein-losing enteropathy. The subject of this study was an age gender with a confirmed diagnosis of Gaucher disease based on clinical evaluation and genetic testing for mutations in the GBA gene. The patient had been receiving enzyme replacement therapy for duration prior to this presentation [7]. A comprehensive clinical evaluation was performed, including a detailed medical history, physical examination, and assessment of symptoms such as abdominal distension, diarrhea, and weight loss. Blood tests were conducted to assess liver function, complete blood count, serum protein levels, and albumin levels. Specific attention was paid to indicators of protein-losing enteropathy, including low serum albumin and hypoproteinemia.

Abdominal ultrasound and computed tomography (CT) scans were performed to visualize the abdominal organs, assess for splenomegaly or hepatomegaly, and identify any masses indicative of gaucheroma. A biopsy of the suspected gaucheroma was obtained during an endoscopic procedure. Tissue samples were processed and analyzed for the presence of Gaucher cells, confirming the diagnosis. Based on the findings, the treatment regimen was adjusted to optimize enzyme replacement therapy dosage. Nutritional support was initiated, including a high-protein diet and possible enteral feeding, to manage protein loss. Symptomatic treatments for diarrhea were also implemented [8]. The patient was scheduled for regular follow-up visits to monitor response to therapy, assess gastrointestinal symptoms, and perform repeat imaging studies as necessary. This structured approach allowed for comprehensive management of the patient’s condition, facilitating timely interventions and optimizing clinical outcomes.

Results and Discussion

The patient, an age was diagnosed with Gaucher disease prior to presentation. Initially managed with enzyme replacement therapy, the patient presented to our clinic with progressive abdominal distension, significant weight loss, and persistent diarrhea lasting over [9]. Upon physical examination, notable findings included abdominal tenderness and signs of dehydration. Laboratory tests revealed hypoproteinemia and low serum albumin levels, indicative of protein-losing enteropathy. Imaging studies, including abdominal ultrasound and CT scan, confirmed the presence of a gaucheroma located in the which was compressing the adjacent intestinal structures. The diagnosis of gaucheroma was confirmed through a biopsy, showing characteristic Gaucher cells. The management plan included adjusting the enzyme replacement therapy dosage and initiating nutritional support to address the protein loss. The patient was also started on symptomatic treatment for diarrhea and monitoring for any signs of obstruction or further complications. The coexistence of gaucheroma and protein-losing enteropathy in this patient underscores the complexity of Gaucher disease and its potential for unusual presentations. While gaucheroma is a rare complication, it can significantly affect gastrointestinal function and contribute to malnutrition, which may further exacerbate the underlying condition [10]. This case emphasizes the necessity for clinicians to be vigilant in recognizing atypical complications in patients with Gaucher disease. Early diagnosis and comprehensive management can improve outcomes and enhance the quality of life for affected individuals. Continued research into the mechanisms behind these complications may lead to better therapeutic strategies and improved patient care.

Conclusion

This case highlights the importance of recognizing rare complications associated with Gaucher disease, specifically gaucheroma and protein-losing enteropathy. Despite the well-established treatment protocols for managing Gaucher disease, the emergence of atypical manifestations can significantly complicate patient care. Early diagnosis and a multidisciplinary approach are essential for effectively addressing these complications, optimizing treatment strategies, and improving patient outcomes. Continued awareness and research into the varied presentations of Gaucher disease will enhance our understanding and management of this complex disorder, ultimately leading to better support for affected individuals.

Acknowledgment

None

Interest of Conflict

None

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