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Familial hypocalciuric hypercalcemia and related disorders
Janet Y Lee1, Dolores M Shoback2
1Divisions of Endocrinology and Metabolism and Pediatric Endocrinology, Departments of Medicine and Pediatrics, University of California, San Francisco, United States.
Best Practice & Research. Clinical Endocrinology & Metabolism
|November 20, 2018
Summary
Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder causing mild hypercalcemia. Early diagnosis through urinary calcium testing is crucial to avoid misdiagnosis and unnecessary treatments for primary hyperparathyroidism.
Area of Science:
- Endocrinology
- Genetics
- Nephrology
Background:
- Familial hypocalciuric hypercalcemia (FHH) is a genetic condition characterized by elevated calcium levels in the blood.
- It arises from inactivating mutations in genes regulating calcium sensing.
- Unlike other hypercalcemic disorders, FHH typically presents with mild symptoms and a benign clinical course.
Purpose of the Study:
- To highlight the genetic basis of FHH.
- To emphasize the importance of differentiating FHH from primary hyperparathyroidism (PHPT).
- To outline diagnostic approaches for FHH.
Main Methods:
- Review of genetic mechanisms underlying FHH.
- Analysis of biochemical features distinguishing FHH from PHPT.
- Emphasis on the role of urinary calcium and creatinine measurements.
Main Results:
- FHH results from mutations in the calcium-sensing receptor, G-protein subunit α11, or adaptor-related protein complex 2.
- Biochemical overlap between FHH and PHPT can lead to misdiagnosis.
- Urinary calcium excretion levels are key diagnostic indicators, though some overlap exists.
Conclusions:
- Accurate diagnosis of FHH is essential to prevent inappropriate interventions for PHPT.
- Measurement of 24-hour urinary calcium and creatinine is recommended in hypercalcemia workups.
- Low urinary calcium levels in asymptomatic hypercalcemia suggest FHH.
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