Prevalence: about 1/75.000 for type I. Autosomal recessive transmission of a mutation of the GBA gene (1q22). Lysosomal storage disorder characterized by deficiency in ß-glucocerebrosidase (accumulation of glucocerebroside in lysosomes mainly in the liver, spleen and bone marrow). Strabismus, lung infiltration, kyphoscoliosis, cardiac problems, swallowing disturbance. 

Different types:

-         type I non neuronopathic (94 %), adult, or chronic [MIM 230 800]: hepato-splenomegaly, pancytopenia, skeletal lesions (pathological fractures, osteonecrosis at the level of the large joints) (the most common form, especially in people of Ashkenazi descent)

-         type II acute neuronopathic (1 %) or acute infantile [MIM 230 900]: severe neurological signs,  early death. A letal fetal form has been described [MIM 608 013].

-         type III subacute neurological  (5 %) or subacute infantile [MIM 231 000]: hepato-splenomegaly, pancytopenia, and neurological signs starting when more than 6 years old: seizures, myoclonus

-         type IIIc: [MIM 231 005] due to a homozygous mutation of D409C on the GBA gene. Clinical presentation : cardiac pathology with calcification of the aortic or mitral valves, or even of the aortic arch starting during adolescence. Hepatosplenomegaly and thrombocytopenia are mild.

-        there is a very rare n "atypic" form [MIM 610 539], similar  to type III and caused by a mutation of the PSAP gene (10q22.1), coding for saposine C, an protein activating β-glucocerebrosidase.

Treatment of types I and III:

1)        substitution enzymes: IV administration every two weeks of recombinant ß-glucocerebrosidase  (imiglucerase or Cerezyme® or velaglucerase; dose: 15 to 60 U/kg), The substitution enzyme does not cross the hematoencephalic barrier.

2)        reduction of the substrate: daily oral administration of miglustat or eliglustat. This treatment quickly leads to a disappearance of painful bone and abdominal crisis as well as asthenia. Some time later, anemia and thrombocytopenia improve and the volume of the liver and the spleen decreases. In the developing countries, high doses of ambroxol (cyclohexanol with mucolytic and expectorating properties) are given orally for the same purpose.

Anesthetic implications: 

Difficult intubation (untreated cases) : select a smaller than usual for age endotracheal tube size. Risk of pulmonary inhalation. Check complete blood count: anemia, platelets. Check the hemostasis: platelet function may be impaired, sometimes factor deficiency, fibrinolysis: thromboelastrography can be contributive. Osteoporosis. Antiepileptic treatment. In adults, echocardiography.

References : 

• Tobias JD, Atwood R, Lowe S, Holcomb GW, III. 
  Anesthetic considerations in the child with Gaucher disease. 
  J Clin Anesth 1993; 5:150-3.
• Dell'Oste C, Vincenti F. 
  Anaesthetic management of children with type II and III Gaucher disease. 
  Minerva Pediatr 1997; 49:495-8.

• Mireles SA, Seybold J, Williams G. 
  Undiagnosed Type IIIc Gaucher disease in a child with aortic and mitral valve calcification : perioperative complications after cardiac surgery. 
  J Cardiothorac Vasc Anesth 2010; 24: 471-4.
• Tharp WG, Farhang B.
  Thromboelastography before epidural placement in a thrombocytopenic parturient with Gaucher disease treated with Imiglucerate: a case report.
  A&A Practice 2018; 11: 16-8 
• Zhan X, Zhang H, Maegawa GHB, Wang Y, Gao X, Wang D, Li J.
  Use of ambroxol as therapy for Gaucher disease.
  JAMA Network Open. 2023;6 :e2319364. doi:10.1001/jamanetworkopen.2023.19364

Updated: July 2023