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[Familial hypocalciuric hypercalcemia]
F T Gjestvang1, S Olsson, A Sundøy
1Medisinsk avdeling, Vest-Agder Sentralsykehus, Kristiansand.
Insights
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.
- 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.
Abstract:
Familial hypocalcuric hypercalcemia is a condition that is often incorrectly diagnosed and treated. We studied a family with seven members who had familial hypocalcuric hypercalcemia. In four of the family members it was difficult to make the diagnosis. A correct diagnosis was made in the other three on the basis of known family history. Subtotal parathyroidectomi was carried out on three of the family. After operation, two of these experienced a relapse, and one became permanently hypocalcemic.