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Related Experiment Videos

Familial hyperparathyroidism without multiple endocrine neoplasia

S M Huang1, Q Y Duh, J Shaver

  • 1Department of Surgery, University of California San Francisco/Mount Zion, 1600 Divisadero Street, Room C342, San Francisco, California 94115, USA.

World Journal of Surgery
|January 1, 1997
PubMed
Summary

Familial hyperparathyroidism (FHPT) is a distinct endocrine disorder. Patients often have multiple abnormal parathyroid glands, leading to severe hypercalcemia and recurrent disease, unlike sporadic or MEN-associated forms.

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Hyperparathyroidism presents sporadically, with Multiple Endocrine Neoplasia (MEN) types I and II, or as Familial Hyperparathyroidism (FHPT).
  • FHPT is a rare form occurring without other endocrine manifestations.

Purpose of the Study:

  • To analyze the clinical course of FHPT patients.
  • To compare FHPT with other forms of hyperparathyroidism.

Main Methods:

  • Retrospective analysis of 16 FHPT patients from 14 families (1934-1991).
  • Literature review of 51 additional FHPT cases.
  • Clinical data comparison between FHPT, MEN-associated, and sporadic hyperparathyroidism.

Main Results:

  • FHPT patients frequently presented with severe hypercalcemia (44% >/= 3.75 mmol/L) and hypercalcemic crisis (31%).

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  • Multiple abnormal parathyroid glands (75%) and reoperation for persistent/recurrent disease (44%) were common.
  • Associated conditions included nephrolithiasis (31%), osteitis fibrosa cystica (19%), and papillary thyroid cancer (19%).

    • Conclusions:

    • Familial hyperparathyroidism without other endocrinopathies is a distinct clinical entity.
    • FHPT is characterized by multiple abnormal parathyroid glands, high recurrence rates, and severe hypercalcemia.
    • FHPT clinical presentation differs significantly from MEN-associated and sporadic hyperparathyroidism.