Familial hypocalciuric hypercalcemia screening

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.^[1]^[2]

References

↑ Fernández López I, Fernández Peña I, Cózar León MV, Viloria Peñas MM, Martínez De Pinillos Gordillo G, Fernández-Ladreda MT, Duran García S (2011). “[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation]”. Endocrinol Nutr (in Spanish; Castilian). 58 (7): 325–30. doi:10.1016/j.endonu.2011.04.004. PMID 21697018.
↑ “FHH and Diagnosing FHH. Familial Hypocalciuric Hypercalcemia (FHH); Low Urine Calcium”.

Overview