General Anesthesia and Fabry Disease: A Case Report

Krüger S, Stefan Krüger, Albina Nowak, Nowak A, Müller TC, Torben Christoph Müller
A & A case reports · 2017 · vol. 8(10) , pp. 247–249 · doi:10.1213/XAA.0000000000000479 · PMID:28079663
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This case report details the perioperative management of two female patients with Fabry disease undergoing general anesthesia for gynecological and trauma surgeries.

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This case report examines the perioperative management of two female patients with Fabry disease who underwent general anesthesia for gynecological and trauma surgeries. The authors highlight the progressive accumulation of glycosphingolipids in major organ systems, which leads to variable clinical presentations including cardiac, renal, and nervous system dysfunction. They discuss specific anesthetic considerations based on new medical literature to address the unique risks associated with this inherited X-linked disorder. The paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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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.
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Case Reports: Case Report General Anesthesia and Fabry Disease: A Case Report - Stefan Krüger* - Albina Nowak† - Torben Christoph Müller* 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. Copyright © 2017 International Anesthesia Research Society

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Condition tags

endometriosis

MeSH descriptors

Anesthesia, General Endometriosis Fabry Disease Gynecologic Surgical Procedures Gynecologic Surgical Procedures Orthopedic Procedures Orthopedic Procedures Adult Adult Aged Aged alpha-Galactosidase alpha-Galactosidase alpha-Galactosidase Anesthesia, General Anesthesia, General Anesthesia, General Endometriosis Endometriosis Endometriosis

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europepmc
last seen: 2026-10-18T09:30:06.152893+00:00
pubmed
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