Familial Hypocalciuric Hypercalcemia and Benefits of Genetic Confirmation: A Case Report and Review

Objective: To differentiate familial hypocalciuric hypercalcemia (FHH), a rare condition, from primary hyperparathyroidism (PHPT), one of the most common causes of hypercalcemia, leading to avoidance of unnecessary surgical treatment; and also to review FHH.Methods: We present the history, physical, laboratory investigations, and clinical course of a 42-year-old woman who presented to our endocrinology office with hypercalcemia. An updated...