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 · doi:10.1213/XAA.0000000000000479 · PMID:28079663
case-report OA: closed public-domain-us
Full text JSON View on PubMed View at publisher
⚙ AI-generated deep summary by qwen3.7-flash, 2026-08-25 · read from full text ⓘ

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.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

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.
Full text 890 characters · extracted from oa-doi-fallback · click to expand
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

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

⚙ Ask this paper AI returns verbatim quotes from the full text · source: oa-doi-fallback ⓘ

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Condition tags

endometriosis

MeSH descriptors

Anesthesia, General Endometriosis Fabry Disease Gynecologic Surgical Procedures Orthopedic Procedures Adult Aged alpha-Galactosidase alpha-Galactosidase Anesthesia, General Anesthesia, General Endometriosis Endometriosis Endometriosis Enzyme Replacement Therapy Fabry Disease Fabry Disease Fabry Disease Fabry Disease Female

Citation neighborhood (no data yet)

We don't have any in-corpus citations linked to this paper yet. The paper's references may be in our DB but unresolved to ``paper_id`` (resolution happens at ingest when the cited DOI matches a row we already have). Run the cross-source citation reconcile pass to retry.

Source provenance

europepmc
last seen: 2026-09-06T09:34:12.023084+00:00
pubmed
last seen: 2026-05-13T22:20:37.704673+00:00
unpaywall
last seen: 2026-05-14T19:30:52.867331+00:00
License: public-domain-us · commercial use OK · attribution required
Courtesy of the U.S. National Library of Medicine