Familial hypocalciuric hypercalcemia screening

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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

There is insufficient evidence to recommend routine screening for familial hypocalciuric hypercalcemia (FHH).

Screening

• Prenatal testing for FHH is not recommended routinely.
• If both 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.