Chapter 10. Endocrine and metabolic issues in 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.
10.1 Screening and management of diabetes mellitus in Friedreich ataxia
10.2 Screening and management of osteoporosis in Friedreich ataxia
10.3 Assessing nutritional status in 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.
10. Endocrine and metabolic issues in Friedreich ataxia
This chapter describes important endocrine and metabolic issues for individuals with Friedreich ataxia, including diabetes, osteoporosis and assessing nutritional status, and strategies for investigation and management. In making recommendations for screening and management of endocrine and metabolic issues, the authors were tasked with answering the following questions:
For individuals with Friedreich ataxia, what management strategies could be implemented for diabetes mellitus? (see 10.1)
For individuals with Friedreich ataxia, what management strategies could be implemented for osteoporosis? (see 10.2)
For individuals with Friedreich ataxia, what management strategies could be implemented to assess nutritional status? (see 10.3)
Professor, Universite Libre de Bruxelles, Brussels, Belgium
Email: miriam.cnop@ulb.be
Andreas Eigentler, MD, PhD
Resident of Neurology, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria
Email: andreas.eigentler@i-med.ac.at
Shana E. McCormack, MD, MTR
Assistant Professor of Pediatrics, Attending Physician, Perelman School of Medicine at the University of Pennsylvania, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Email: mccormacks1@chop.edu
Jaclyn Tamaroff, MD
Instructor in Pediatrics, Division of Pediatric Endocrinology and Diabetes, Vanderbilt University Medical Center, Nasvhille, Tennessee, USA
Email: jaclyn.tamaroff@vumc.org
David R. Weber, MD, MSCE
Assistant Professor of Pediatrics – Endocrinology, The Children’s Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
Email: weberd@chop.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.