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Related Experiment Videos

Familial hyperinsulinism presenting in adults.

W J Burman1, M T McDermott, M Bornemann

  • 1Department of Medicine, Fitzsimons Army Medical Center, Aurora, Colo.

Archives of Internal Medicine
|October 1, 1992
PubMed
Summary

Adult siblings experienced recurrent fainting from severe hyperinsulinism. This case is the first report of familial hyperinsulinism without multiple endocrine neoplasia type 1 syndrome, suggesting a new diagnostic approach.

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Area of Science:

  • Endocrinology
  • Genetics
  • Medical Diagnostics

Background:

  • Familial hyperinsulinism is a rare cause of severe hypoglycemia.
  • Multiple endocrine neoplasia type 1 (MEN1) syndrome is a genetic disorder associated with pancreatic tumors and hyperinsulinism.
  • Adult-onset hyperinsulinism without other MEN1 manifestations is uncommon.

Observation:

  • Two adult siblings presented with recurrent syncope attributed to severe hyperinsulinism.
  • Histologic examination of the elder sibling's pancreas revealed islet cell hyperplasia, despite a grossly normal appearance.
  • Neither sibling exhibited signs of MEN1 syndrome or had a relevant family history.

Findings:

  • This study reports the first known case of adult-onset familial hyperinsulinism unassociated with other MEN1 syndrome features.

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  • The presentation suggests a distinct genetic basis for familial hyperinsulinism.
  • Treadmill exercise was utilized as a provocative test to diagnose hyperinsulinism and monitor treatment response.

    • Implications:

    • This finding expands the known spectrum of familial hyperinsulinism and its genetic underpinnings.
    • The exercise-induced hyperinsulinism test may offer a simple diagnostic tool for similar cases.
    • Further research into the genetic and clinical variations of hyperinsulinism is warranted.