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What is familial hypocalciuric hypercalcemia?

Dr. Jack Merendino, MD
Endocrinology Diabetes & Metabolism
Familial hypocalciuric hypercalcemia (FHH) is a hereditary condition of parathyroid gland sensing. The parathyroid glands in this condition do not properly sense blood calcium levels and secrete excess parathyroid hormone (PTH) even when the blood calcium level is normal. This results in a rise in the blood calcium. This is a true form of hyperparathyroidism, but it tends to be relatively benign, with only mild elevation of the blood calcium and relatively few long-term complications. The hallmark of the condition is an unusually low urine calcium excretion, typically less than 50 mg of calcium in the urine in 24 hours. The condition is not always hereditary -- there are non-familial cases as well. Measurement of urine calcium excretion is an important part of the evaluation of someone with a high blood calcium level, both to exclude FHH as a diagnosis and to determine if the person is at high risk of kidney stones, which might prompt one to recommend surgery.  

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