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.