Abstract
Gaucher, the most common form of lysosomal storage diseases, is caused by an inherited deficiency of the beta-glucocerebrosidase enzyme. Gaucher disease may present a challenge to the anesthesiologist because of abnormal coagulation and multiorgan disease in obstetric situations. These factors may affect choice of anesthesia type. We aimed to report the diverse anesthetic management of Gaucher Disease depending on patient’s characteristics in two different cases.
Highlights
Gaucher, the most common form of lysosomal storage disease, is caused by an inherited deficiency of the beta-glucocerebrosidase enzyme
Type I Gaucher disease may present a challenge to the anesthesiologist because of abnormal coagulation and multiorgan disease in obstetric situations
We aimed to report the diverse anesthetic management of Gaucher Disease depending on patient’s characteristics in two different cases
Summary
The most common form of lysosomal storage disease, is caused by an inherited deficiency of the beta-glucocerebrosidase enzyme. Type I (adult, chronic, nonneuronopathic) is the most common and mildest form, marked by absence of neurological involvement by virtue of the presence of the common 1226G (N370S) mutation, is especially prevalent among the Ashkenazi Jewish population with a disease frequency of about 1:850 in live births It is present in different ethnic groups with a frequency between 1:40 000 to 1:60 000 in the general population. Blood group analysis was performed and the laboratory prepared 2 units of packed red blood cells to be used in case of need Since her preoperative fasting period was not enough for general anesthesia we considered that the patient had a higher risk for aspiration (in the presence of pregnancy and gastroesophagic reflux), and since coagulation parameters were within normal limits, we decided that epidural anesthesia would be suitable for her. The patient remained in the ICU for 18 hr, and was transferred to obstetric department and she was discharged 4th day of hospital stay
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