Appendiceal involvement in a patient with Gaucher disease

Area of Science:

• Gastroenterology
• Genetics
• Pathology

Background:

• Gaucher disease (GD) is a lysosomal storage disorder with diverse organ involvement.
• Abdominal lymphadenopathy is a known, though less common, manifestation of GD, particularly during treatment.

Observation:

• A 14-year-old boy with GD type 3 presented with acute appendicitis symptoms.
• Imaging revealed ileocecal region intestinal wall thickening and periappendicular infiltration.
• Appendectomy was performed after conservative antibiotic treatment failed.

Findings:

• Histopathology demonstrated Gaucher cells infiltrating mesoappendiceal adipose tissue, subserosal tissue, and muscularis propria of the appendix.
• This represents the first documented case of frank vermiform appendix infiltration by Gaucher cells.

Implications:

• Appendiceal infiltration by Gaucher cells is a previously unreported manifestation of Gaucher disease.
• This finding suggests a potential causative link between Gaucher cell infiltration and appendicitis in affected individuals.
• Highlights the need for considering GD in the differential diagnosis of appendicitis, especially in patients with known GD.