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General Surgery · Parathyroid: differential of hypercalcaemia
Sample itemA 35-year-old woman has asymptomatic serum calcium 11.0 mg/dL, normal PTH, and a 24-hour urinary calcium to creatinine clearance ratio below 0.01. Her father and sister also have mild hypercalcaemia. What is the diagnosis and management?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Familial hypocalciuric hypercalcaemia, with no surgery
Familial hypocalciuric hypercalcaemia results from an inactivating mutation of the calcium-sensing receptor, so the kidney reabsorbs calcium avidly despite hypercalcaemia. A calcium to creatinine clearance ratio under 0.01 differentiates it from primary hyperparathyroidism. It is benign, and parathyroidectomy does not correct the biochemistry.
Option by option
A. Sporadic parathyroid adenoma, for parathyroidectomy
In primary hyperparathyroidism the clearance ratio is usually above 0.02 and surgery cures it, which is not the case here.
B. Humoral hypercalcaemia of malignancy, for oncology work-up
Malignancy produces suppressed PTH and a marked clinical illness rather than a stable familial pattern.
C. Vitamin D intoxication, for steroids
Vitamin D toxicity has a suppressed PTH and high urinary calcium, and does not run in families.
D. Familial hypocalciuric hypercalcaemia, with no surgery (correct)
Correct. Low urinary calcium with a family history and a normal PTH point to FHH, which is benign.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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