Is there evidence for gastrointestinal involvement in Gaucher disease?

Gastrointestinal involvement in patients with Gaucher disease has been described as very rare.1 There have been only a few cases of gastrointestinal tract infiltration in Gaucher disease Type 1 and Gaucher disease Type 2 (Table 1).

Table 1.
Clinical characteristics and genotype of patients with Gaucher disease Types 1 and 2 and gastrointestinal involvement. Adapted with permission from Kim Y-M et al. BMC Med Genet 2017; 18: 55.1

A case report of a 24-year-old female patient with Gaucher disease Type 3 was published, detailing unusual sites of Gaucher cell deposition in the gastrointestinal tract. Uncommon gastrointestinal clinical symptoms of the disease occurred, namely small-bowel obstruction and lower gastrointestinal haemorrhage. The authors suggested that this case report highlights the importance of recognising manifestations of Gaucher disease beyond the well-characterised and classic hepatosplenomegaly. Moreover, they suggested that bowel obstruction and the resulting gastrointestinal haemorrhage observed in this patient are complications that are more likely to be observed in patients with long-standing, moderate-to-severe Gaucher disease.6

C-ANPROM/INT//7566; Date of preparation: September 2020