Familial hypocalciuric hypercalcemia diagnostic criteria

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD[2]]

Overview

The diagnosis of familial hypocalciuric hypercalcemia (FHH) is based on the presence of asymptomatic hypercalcemia in the multiple family members, hypercalcemia, and hypocalciuria.

Diagnostic Criteria

The diagnosis of FHH is made when the following criteria are met:

• Familial - A genetic condition that runs in multiple family members of the same family
  • Hypocalciuric - Low urinary calcium
  • Hypercalcemia - High serum calcium
• Prenatal testing for FHH is not recommended routinely unless both the parents have type-1 FHH, their children should be screened for CASR mutation.
• Genetic screening for the CASR familial mutation is also offered to family members of affected individuals.
• CaSR and AP2S1 sequencing are done in patients with familial hyperparathyroidism and phenotype suggesting FHH.
• Learning disabilities in patients, associated with higher serum calcium and magnesium levels may suggest the presence of an AP2S1 mutation and may require further genetic evaluation.