Definition
Familial hypocalciuric hypercalcemia (FHH) is a benign autosomal dominant disease characterized by mild hypercalcemia and hypocalciuria, which develops due to a defect in the calcium sensing receptor (CaSR).
Symptoms
- Usually asymptomatic
- Mild hypercalcemia
- Low urine calcium
- Similar history in family
Reasons
Heterozygous inactivating mutation in the calcium-sensing receptor (CaSR) gene.
Diagnosis
Slightly elevated blood calcium, low urinary calcium excretion, CaSR gene analysis.
Treatment
Treatment is usually not required. Parathyroidectomy should be avoided.
Which Polyclinic Should You Apply To?
Endocrinology Polyclinic
What to Do in an Emergency?
In rare cases, if a hypercalcemia crisis occurs, emergency services should be consulted.
This page is for general information purposes only.