Cholelithiasis in patients with Gaucher disease

Area of Science:

• Biochemistry
• Genetics
• Gastroenterology

Background:

• Gaucher disease is an inherited lysosomal storage disorder caused by glucocerebrosidase deficiency.
• Clinical manifestations of Gaucher disease are diverse and can affect multiple organ systems.
• Previous observations suggested a potential link between Gaucher disease and gallstones.

Purpose of the Study:

• To investigate the prevalence of gallstones in adult patients with type 1 Gaucher disease.
• To identify potential contributing factors to gallstone formation in this patient population.

Main Methods:

• Retrospective review of clinical records of 66 adult patients with type 1 Gaucher disease at the National Institutes of Health.
• Analysis of patient demographics, history of gallstones, cholecystectomy, anemia, and splenectomy.
• Validation of findings by reviewing medical records of a second cohort of 80 adult Gaucher disease patients in Northern Israel.

Main Results:

• Twenty-one out of 66 patients (31.8%) at NIH had gallstones or a history of cholecystectomy.
• Commonly associated factors included chronic anemia (11 patients) and prior splenectomy (15 patients).
• Sixteen out of 80 patients (20%) in the Israeli cohort also had gallstones, confirming a higher prevalence.

Conclusions:

• Gallbladder disease, specifically gallstones, appears to be more common in adult patients with Gaucher disease than previously recognized.
• Factors such as anemia, splenectomy, and potentially increased glucosylceramide excretion may contribute to cholelithiasis.
• Further research is warranted to elucidate the mechanisms and clinical implications of gallbladder involvement in Gaucher disease.