Chapter 15. Emergency department presentations for Friedreich ataxia
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
15.1 Emergency department presentation with chest pain in Friedreich ataxia
15.2 Other presentations to the emergency department with Friedreich ataxia
Disclaimer / Intended Use / Funding
Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.
The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.
Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.
These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.
Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.
15. Emergency department presentations in Friedreich ataxia
This chapter describes the common presentations to an emergency department for individuals with Friedreich ataxia. Individuals may present with acute or acute on chronic complications related to the multisystem involvement of Friedreich ataxia, including chest pain, musculoskeletal presentations, urinary tract infection and diabetes emergencies. In making recommendations for management of presentations to the emergency department, the authors were tasked with answering the following questions:
For individuals with Friedreich ataxia what is the best management strategies for chest pain and/or raised troponin? (see 15.1)
For individuals with Friedreich ataxia what is the best management strategies for other presentations at the emergency department? (see 15.2)
Hamed Akhlaghi, MD, PhD, FACEM, GradDipClinUSS
Head of Emergency Medicine Research, St Vincent’s Hospital (Melbourne), Melbourne, Victoria, Australia
Email: hamed.akhlaghi@svha.org.au
Noushin Chini Foroush, MD
Neurology Registrar, Monash Medical Centre, Melbourne, Victoria, Australia
Email: noushin.chiniforoush@gmail.com
Anne Fournier, MD, FRCPC
Professor of Pediatrics, University of Montreal, Montreal, Québec, Canada
Email: anne.fournier@umontreal.ca
Yenni Lie, MBBS, FRACP
Neurologist, Monash Health, Melbourne, Victoria, Australia
Email: yenni.lie@monashhealth.org
Roger E. Peverill, MBBS, PhD
Cardiologist, MonashHeart, Monash Health, Clayton, Victoria, Australia
Email: roger.peverill@monash.edu
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These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.