What is the definition of Familial Hypocalciuric Hypercalcemia Type 1?

Familial hypocalciuric hypercalcemia (FHH) type 1 is subtype of a rare genetic (autosomal dominant) condition caused by a mutation in the calcium-sensing receptor gene (CASR). Familiar hypocalciuric hypercalcemia type 1 results in a loss of sensitivity in parathyroid and kidney cells that makes the body register high calcium levels (hypercalcemia) as normal. Familial hypocalciuric hypercalcemia type I accounts for 65% of cases.

What are the symptoms for Familial Hypocalciuric Hypercalcemia Type 1?

Most individuals with familial hypocalciuric hypercalcemia type 1 do not have any symptoms. In rare cases, individuals with familial hypocalciuric hypercalcemia type 1may experience symptoms of weakness, fatigue, headache, constipation, excessive thirst, excessive urination, and problems focusing. Some individuals with familial hypocalciuric hypercalcemia type 1 may develop relapsing pancreatitis, a build-up of calcium deposits in the joints, and early vascular calcification.

What are the current treatments for Familial Hypocalciuric Hypercalcemia Type 1?

For most individuals with familial hypocalciuric hypercalcemia type 1, no treatment is necessary. In patients with familial hypocalciuric hypercalcemia type 1 who have developed pancreatitis, a total parathyroidectomy may be performed.

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