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Familial hypocalciuric hypercalcaemia — SCE Endocrinology MCQ

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ModerateCalcium/BoneFamilial hypocalciuric hypercalcaemiaSCE Endocrinology

A 34-year-old man has lifelong mild hypercalcaemia. Calcium is 2.72 mmol/L, PTH is 6.2 pmol/L and 24-hour urinary calcium excretion is very low. His mother has similar results and no renal stones. What is the most likely diagnosis?

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Correct answer: D — Familial hypocalciuric hypercalcaemia

Mild familial hypercalcaemia with low urinary calcium suggests familial hypocalciuric hypercalcaemia. Primary hyperparathyroidism usually has normal or raised urinary calcium and may cause stones or osteoporosis. Parathyroidectomy does not correct FHH and should be avoided.

Reference: NICE NG132; Endocrine Society Calcium Guidance