How is familial benign (hypocalciuric) hypercalcemia differentiated from hyperparathyroidism?

Updated: Dec 24, 2020
  • Author: Lawrence Kim, MD, FACS, FACE; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Answer

Answer

Familial benign (hypocalciuric hypercalcemia (FHH) is caused by a loss-of-function mutation of one allele of the gene for the calcium-sensing receptor (CaR). It causes hypercalcemia, hypophosphatemia, and hypermagnesemia. The parathyroid hormone level is usually within the reference range or is mildly elevated. It can be distinguished from primary hyperparathyroidism by low 24-hour urinary calcium excretion. Persons with FHH are asymptomatic. Parathyroidectomy is not indicated.


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