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10-05-2023 | Obesity | Review Article

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding

Authors: Ilya Khaytin, A. Kaitlyn Victor, Sarah F. Barclay, Leslie A. Benson, Susan M. Slattery, Casey M. Rand, Kyle C. Kurek, Debra E. Weese-Mayer

Published in: Clinical Autonomic Research | Issue 3/2023

Abstract

Purpose

To provide an overview of the discovery, presentation, and management of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD). To discuss a search for causative etiology spanning multiple disciplines and continents.

Methods

The literature (1965–2022) on the diagnosis, management, pathophysiology, and potential etiology of ROHHAD was methodically reviewed. The experience of several academic centers with expertise in ROHHAD is presented, along with a detailed discussion of scientific discovery in the search for a cause.

Results

ROHHAD is an ultra-rare syndrome with fewer than 200 known cases. Although variations occur, the acronym ROHHAD is intended to alert physicians to the usual sequence or unfolding of the phenotypic presentation, including the full phenotype. Nearly 60 years after its first description, more is known about the pathophysiology of ROHHAD, but the etiology remains enigmatic. The search for a genetic mutation common to patients with ROHHAD has not, to date, demonstrated a disease-defining gene. Similarly, a search for the autoimmune basis of ROHHAD has not resulted in a definitive answer. This review summarizes current knowledge and potential future directions.

Conclusion

ROHHAD is a poorly understood, complex, and potentially devastating disorder. The search for its cause intertwines with the search for causes of obesity and autonomic dysregulation. The care for the patient with ROHHAD necessitates collaborative international efforts to advance our knowledge and, thereby, treatment, to decrease the disease burden and eventually to stop, and/or reverse the unfolding of the phenotype.

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Title: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding
Authors: Ilya Khaytin
A. Kaitlyn Victor
Sarah F. Barclay
Leslie A. Benson
Susan M. Slattery
Casey M. Rand
Kyle C. Kurek
Debra E. Weese-Mayer
Publication date: 10-05-2023
Publisher: Springer Berlin Heidelberg
Keywords: Obesity
Obesity
Published in: Clinical Autonomic Research / Issue 3/2023
Print ISSN: 0959-9851
Electronic ISSN: 1619-1560
DOI: https://doi.org/10.1007/s10286-023-00936-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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