Gaucher's disease is one of the most common lysosomal storage disorders with defects in the enzyme glucosylceramidase (glucocerebrosidase). The disease is caused by mutations in the GBA gene on chromosome 1 (autosomal recessive) and affects both sexes.
The incidence is estimated to be 1:40,000 in Europe. Most commonly, the disease is differentiated into a non-neuronopathic form and a neuronopathic form. Thus, patients may present with symptoms early during childhood or later in life. Patients may develop organ damage with some manifestations in the coagulation system relevant to anaesthesia, an impaired immune competence, reduced lung function and elevated pulmonary arterial pressure in adults. A specific therapy with eliglustat may interact with peri-operative medication and should be paused for 48h before surgery. Neuroaxial anaesthesia, regional-anaesthesiological nerve blocks and general anaesthesia can be performed safely in these patients with individual risk assessment.