Case report of cholelithiasis in a patient with type 1 Gaucher disease

Abstract

Introduction: Patients with type 1 Gaucher disease have been reported to be more likely to have cholelithiasis.

Presentation of case: A case of cholelithiasis in a patient with type 1 Gaucher disease; which is very intriguing to show this comorbidity. The case was the only known case with this pathology in time of diagnosis in our country (Kosovo). The patient is a 21-year old girl a known case of type 1 Gaucher disease, at the age of 8 years. The patient underwent elective laparoscopic cholecystectomy. Chronic inflammatory changes and adhesions were obvious during surgery.

Discussion: Type 1 Gaucher disease patients have several risk factors for gallstone formation: increased biliary excretion of glucosylceramide, advanced liver disease and cirrhosis, splenomegaly, inborn error of metabolism, chronic systemic inflammation, T cell dysfunction, and insulin resistance" to risk factors.

Conclusion: Gallstones and cholecystitis should be considered when abdominal symptoms and liver dysfunctions are seen in these patients. More studies are needed in especially Kosovo.

Keywords: Cholelithiasis; Kosovo; Type 1 Gaucher disease.