Severe insulin resistance syndromes
Angeliki M. Angelidi,1 Andreas Filippaios,2 and Christos S. Mantzoros1,3
1Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
2Department of Medicine, Lowell General Hospital, Lowell, Massachusetts, USA.
3Section of Endocrinology, Boston VA Healthcare System, Harvard Medical School, Boston, Massachusetts, USA.
Address correspondence to: Christos S. Mantzoros, ASN-249, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, Massachusetts 02215, USA. Phone: 617.667.8633; Email: cmantzor@bidmc.harvard.edu.
Find articles by Angelidi, A. in: JCI | PubMed | Google Scholar
1Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
2Department of Medicine, Lowell General Hospital, Lowell, Massachusetts, USA.
3Section of Endocrinology, Boston VA Healthcare System, Harvard Medical School, Boston, Massachusetts, USA.
Address correspondence to: Christos S. Mantzoros, ASN-249, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, Massachusetts 02215, USA. Phone: 617.667.8633; Email: cmantzor@bidmc.harvard.edu.
Find articles by Filippaios, A. in: JCI | PubMed | Google Scholar
1Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
2Department of Medicine, Lowell General Hospital, Lowell, Massachusetts, USA.
3Section of Endocrinology, Boston VA Healthcare System, Harvard Medical School, Boston, Massachusetts, USA.
Address correspondence to: Christos S. Mantzoros, ASN-249, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, Massachusetts 02215, USA. Phone: 617.667.8633; Email: cmantzor@bidmc.harvard.edu.
Find articles by Mantzoros, C. in: JCI | PubMed | Google Scholar
Published February 15, 2021 - More info
J Clin Invest. 2021;131(4):e142245. https://doi.org/10.1172/JCI142245.
© 2021 American Society for Clinical Investigation
Severe insulin resistance syndromes are a heterogeneous group of rare disorders characterized by profound insulin resistance, substantial metabolic abnormalities, and a variety of clinical manifestations and complications. The etiology of these syndromes may be hereditary or acquired, due to defects in insulin potency and action, cellular responsiveness to insulin, and/or aberrations in adipose tissue function or development. Over the past decades, advances in medical technology, particularly in genomic technologies and genetic analyses, have provided insights into the underlying pathophysiological pathways and facilitated the more precise identification of several of these conditions. However, the exact cellular and molecular mechanisms of insulin resistance have not yet been fully elucidated for all syndromes. Moreover, in clinical practice, many of the syndromes are often misdiagnosed or underdiagnosed. The majority of these disorders associate with an increased risk of severe complications and mortality; thus, early identification and personalized clinical management are of the essence. This Review aims to categorize severe insulin resistance syndromes by disease process, including insulin receptor defects, signaling defects, and lipodystrophies. We also highlight several complex syndromes and emphasize the need to identify patients, investigate underlying disease mechanisms, and develop specific treatment regimens.
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