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[Familial hypocalciuric hypercalcemia].

F T Gjestvang1, S Olsson, A Sundøy

  • 1Medisinsk avdeling, Vest-Agder Sentralsykehus, Kristiansand.

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|February 10, 1992
PubMed
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Familial hypocalcemic hypercalcemia is frequently misdiagnosed. This study highlights diagnostic challenges and poor outcomes after parathyroid surgery in affected family members.

Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Familial hypocalcemic hypercalcemia (FHH) is a rare genetic disorder characterized by high calcium levels in the blood and low calcium levels in the urine.
  • Accurate diagnosis of FHH is crucial as it can be mistaken for primary hyperparathyroidism, leading to inappropriate treatment.
  • Genetic factors play a significant role in the pathogenesis of FHH.

Observation:

  • A family with seven members affected by FHH was studied.
  • Diagnostic challenges were encountered in four family members, with diagnosis confirmed in three based on family history.
  • Three family members underwent subtotal parathyroidectomy.

Findings:

  • Subtotal parathyroidectomy in FHH patients can lead to relapse in a significant proportion of cases.

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  • One patient experienced permanent hypocalcemia following surgery, indicating potential complications.
  • The study underscores the difficulties in diagnosing and managing FHH, even within affected families.

    • Implications:

    • The findings suggest that surgical intervention for FHH may not always be curative and carries risks of hypocalcemia.
    • Improved diagnostic criteria and genetic testing are needed for earlier and more accurate identification of FHH.
    • Further research is warranted to explore optimal management strategies for familial hypocalcemic hypercalcemia.