familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia (FHH) is a rare, inherited metabolic disorder that affects calcium regulation in the body. It is characterized by an abnormal increase in parathormone secretion, leading to elevated calcium levels in the blood. This condition is caused by a mutation in the calcium receptor gene, which impairs the body's ability to properly inhibit parathormone secretion in response to calcium.1

In most individuals with FHH, the elevation in serum calcium and parathormone levels is only slightly increased, and they may not experience any symptoms. However, some may develop nonspecific symptoms like fatigue, weakness, or depression. Unlike other forms of hypercalcemia, FHH is typically not associated with kidney stones or significant bone disease. There is no cure for FHH, and treatment focuses on managing symptoms if they arise.1