Familial hypocalciuric hypercalcaemia

Familial hypocalciuric hypercalcaemia is an autosomal dominant condition which results in asymptomatic mild hypercalcaemia.

Bloods show mildly raised calcium and a normal or mildly raised PTH.

Familial hypocalciuric hypercalcaemia can be distinguished from primary hyperparathyroidism by fractional urinary calcium excreation:
  • Patients with familial hypocalciuric hypercalcaemia: fractional urinary calcium excreation <0.01
  • Patients with primary hyperparathyroidism: fractional urinary calcium excreation >0.02

It is important to distinguish the two as primary hyperparathyroidism requires treatment whilst familial hypocalciuric hypercalcaemia does not.

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