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The current state of adult metabolic medicine in the United States: Results of a nationwide survey

  • Jessica I. Gold
    Correspondence
    Correspondence and requests for materials should be addressed to Jessica I. Gold, Division of Human Genetics, The Children’s Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104
    Affiliations
    Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA
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  • Nina B. Gold
    Affiliations
    Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children and Harvard Medical School, Boston, MA
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  • Alanna Strong
    Affiliations
    Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA

    The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA
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  • Erin Tully
    Affiliations
    Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA
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  • Rui Xiao
    Affiliations
    Division of Biostatistics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA

    Department of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA
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  • Lisa A. Schwartz
    Affiliations
    Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA

    Division of Oncology, The Children’s Hospital of Philadelphia, Philadelphia, PA
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  • Can Ficicioglu
    Affiliations
    Division of Human Genetics, Section of Biochemical Genetics, The Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA
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      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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