INTRODUCING
Gastrointestinal disorders
Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.
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
- Kim YM, Shin DH, Park SB, et al. Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy. BMC Med Genet 2017; 18: 55.
- Park HW, Lee Y, Kim GH, et al. Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease. Gene 2012; 507: 170-173.
- Hoffmann B, Schwahn B, Knobbe CB, et al. Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding. Neuropediatrics 2006; 37: 163-165.
- Henderson JM, Gilinsky NH, Lee EY, et al. Gaucher's disease complicated by bleeding esophageal varices and colonic infiltration by Gaucher cells. Am J Gastroenterol 1991; 86: 346-348.
- Yamadori I, Morikawa T, Kobayashi S, et al. Gaucher's disease type I. Report of a case with prominent deposition of ceroid in splenic endothelial cells and intestinal smooth muscle fibers. Acta Pathol Jpn 1990; 40: 425-430.
- Emanuel AJ, Holman N, Presnell SE, et al. Small bowel mucosal involvement and mesenteric mass formation in a young female with Type 3 Gaucher disease. A case report. J Gastrointestin Liver Dis 2018; 27: 459-463.
BURDEN OF DISEASE
Haematological malignancies
Are haematological malignancies associated with Gaucher disease?
Patients with Gaucher disease may have an increased risk of developing certain types of cancer, particularly multiple myeloma and haematological malignancies.
BURDEN OF DISEASE
Neurological disorders
What neurological disorders have been linked to Gaucher disease?
The risk of developing Parkinson’s disease is increased in patients with Gaucher disease, compared with the general population.
BURDEN OF DISEASE
Metabolic disorders
Have metabolic disorders been linked to Gaucher disease?
Gaucher disease is recognised as a multisystemic chronic disease where clinical symptoms can be accompanied by metabolic and hormonal disturbances.
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