Hipercalcemia hipocalciúrica familiar: a propósito de una nueva mutación

It is very important to determine the difference between FHH and primary hyperparathyroidism. Therefore, in a mild to moderate PTH-dependent hypercalcemia we must perform a family study and determine the urinary excretion of calcium. The presence of any other affected family member or reduced urinary calcium excretion is enough to suspect FHH, and this should be confirmed by the mutational analysis of the CASR gene, in order to establish the correct diagnosis, differentiated from primary hyperparathyroidism, to avoid unnecessary investigations or operations.