Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease

Gaucher disease is an inborn error of metabolism resulting from the deficiency of the enzyme glucocerebrosidase and consequent accumulation of glucocerebroside within the lysosomes of macrophages. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease, and results from the progressive infiltration of lipid-laden cells in various organs. Common manifestations of Gaucher disease include enlarged liver and/or spleen (hepatosplenomegaly), bone marrow disease (pancytopenia) and bone abnormalities, which are extremely variable and can affect multiple skeletal sites. While bone involvement of long bones and vertebrae is a well-recognised feature of Gaucher disease, jawbone involvement is less commonly noted. Here, we describe a case of a 63-year-old patient with type 1 Gaucher disease with a history of long-term use of bisphosphonates and who had presented with dental pain, with subsequent investigations confirming the radiological features of jaw involvement in Gaucher disease, including periodontal disease.

Automated summary

Gaucher disease is a metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase, resulting in the accumulation of glucocerebroside in macrophage lysosomes. Clinical presentation varies widely and commonly includes hepatosplenomegaly, pancytopenia, and bone abnormalities. This case describes jaw involvement in a 63-year-old patient with type 1 Gaucher disease, who had a history of long-term bisphosphonate use.