ABSTRACT
Purpose
Patients with inherited metabolic disorders (IMDs) now have improved health outcomes
and increased survival into adulthood. There is scant evidence on managing adults
with IMDs. We present an analysis of current care practices for adults with IMDs in
the United States.
Methods
We created and distributed an online survey to US members of the Society of Inherited
Metabolic Disorders. The survey addressed ambulatory care, acute management, and health
care transition (HCT) practices of adults with IMDs.
Results
The survey was completed by 91 providers from 73 institutions. Most adult patients
with IMDs receive lifelong care from a single metabolic clinician, predominantly in
pediatric clinic settings. Adults receive comprehensive ambulatory metabolic care,
but fewer trainees participate compared with pediatric visits. Most acute IMD management
occurs in pediatric hospitals. Clinician comfort with HCT increased the frequency
of HCT planning. Overall, all respondents felt that providing specialized care to
adults with IMDs is high value.
Conclusion
Our survey demonstrates the paucity of clinical resources dedicated to adult metabolic
medicine. Care is fragmented and varies by medical system. Interest in HCT is robust
but would benefit from standardized practices. Our findings reinforce the need for
greater focus on adult metabolic medicine in the United States.
Keywords
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Article info
Publication history
Published online: May 10, 2022
Accepted:
April 13,
2022
Received in revised form:
April 12,
2022
Received:
December 7,
2021
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
