Cholelithiasis in a patient with type 2 Gaucher disease

Area of Science:

• Genetics and rare diseases
• Lysosomal storage disorders
• Gastrointestinal and hepatic manifestations

Background:

• Gaucher disease is an autosomal recessive lysosomal storage disorder caused by glucocerebrosidase deficiency.
• Accumulation of glucocerebroside in reticuloendothelial cells characterizes the disease.
• Clinical classification includes three types based on neurological involvement.

Observation:

• Gallbladder involvement is more frequent in type 1 Gaucher disease.
• This report details a type 2 Gaucher disease patient with recurrent cholelithiasis and liver failure.
• The patient presented with severe, progressive neurological symptoms.

Findings:

• Type 2 Gaucher disease, typically associated with severe neurological symptoms, can also present with significant gastrointestinal complications.
• Recurrent cholelithiasis and liver failure occurred in this type 2 Gaucher disease case.
• The co-occurrence of severe neurological decline and hepatic compromise underscores disease complexity.

Implications:

• This case expands the understanding of Gaucher disease phenotypes, particularly type 2.
• It suggests a need for vigilant monitoring of gallbladder and liver function in all Gaucher disease types.
• Further research may elucidate the mechanisms linking Gaucher disease subtypes to specific organ involvement.