title: General Anesthesia and Fabry Disease: A Case Report.
abstract: Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the major organ systems. The subsequent organ damage that manifests in childhood and early adulthood presents a widely variable clinical picture of pain, hypertension, and cardiac, renal, nervous system, and lung dysfunction. We present 2 female patients with Fabry disease who required general anesthesia twice for gynecological and trauma surgery, respectively, and discuss their perioperative management based on new information in the medical literature.
authors.affiliation: From the *Department of Anesthesia and Intensive Care, Kantonsspital Schaffhausen, Schaffhausen, Switzerland; and †Clinic of Medicine/Endocrinology, UniversitätsSpital Zürich.
authors.forename: Stefan
authors.initials: S
authors.lastname: Krüger
authors.forename: Albina
authors.initials: A
authors.lastname: Nowak
authors.forename: Torben Christoph
authors.initials: TC
authors.lastname: Müller
mesh_terms: D000328:Adult; D000368:Aged; D000768:Anesthesia, General / Q000009:adverse effects / Q000379:methods*; D004715:Endometriosis / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology; D005260:Female; D013509:Gynecologic Surgical Procedures; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D019637:Orthopedic Procedures; D012307:Risk Factors; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D007527:Isoenzymes; D000519:alpha-Galactosidase