Premium
Subarachnoid anesthesia in a patient with type I Gaucher disease
Author(s) -
GarcÍa Collada J. C.,
Pereda MarÍn R. M.,
MartÍnez A. I. Garrote,
Miralles Serrano E. M.,
Pacheco López J. F.
Publication year - 2003
Publication title -
acta anaesthesiologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.738
H-Index - 107
eISSN - 1399-6576
pISSN - 0001-5172
DOI - 10.1034/j.1399-6576.2003.470121.x
Subject(s) - medicine , glucocerebrosidase , gaucher's disease , enzyme replacement therapy , disease , perioperative , glucocerebroside , anesthetic , lysosomal storage disease , anesthesiology , pathophysiology , anesthesia , surgery , immunology , pathology
Gaucher's disease is a rare genetic disorder characterized by lack or functional insufficiency of glucocerebrosidase, an enzyme accountable for intracellular hydrolysis of glucosyl ceramide and other glycosphingolipids, which results in macrophage storage in the mononuclear‐macrophage system. The severity of Gaucher's disease is correlated with the extent to which the central nervous system is involved. It is associated with the so‐called Gaucher's cells in the bone marrow, but is specifically diagnosed by showing enzyme acid beta‐glucosidase activity in a sample of blood leukocyte or cultured macrophages from skin biopsy. In the last 10 years, an enzyme replacement therapy (alglucerase) for the disease has been available, which has significantly changed approaches to its treatment. Here we report the case of a 56‐year‐old female patient with type I Gaucher's disease who underwent surgery for subcapital hip fracture with subarachnoid anesthesia. Type I Gaucher's disease clinical and pathophysiologic aspects relevant to anesthetic management are discussed. As very few similar cases have been reported in the anesthesiology literature, it is our belief that the present case may help to elucidate some controversial issues relating to the perioperative anesthetic management of patients with type I Gaucher's disease.