SUMMARY.A relationship between serum concentrations of ionized calcium and parathyroid hormone (PTH) in persons without parathyroid over activity was defined by performing an oral calcium load test. As a result, a serum PTH concentration greater than 2· 6 pmol/L in a hypercalcaemic patient was regarded as suggestive of hyperparathyroidism. Fasting serum PTH concentrations in 58 patients with surgically and histologically proven primary hyperparathyroidism (PHPD were all above 2· 7 pmol/L (range 3' 2-84' 5). Thirteen of 20 patients with familial benign hypercalcaemia (FBH) had fasting serum PTH concentrations greater than 2· 6 pmollL (range 1'6-6'1). There was a significant correlation between serum PTH and age in the FBH patients only. Fasting urine calcium excretion (CaE) ranged from 14 to 222 p.mol/L of glomerular filtrate in PHPT and 3-34 p.mol/L of glomerular filtrate in FBH. The best biochemical discriminant between patients with PHPT and FBH was a plot of fasting serum PTH against CaE' A plot of post-calcium load PTH against post-load CaE showed no further significant advantage in discriminating between the two conditions.
Additional key phrases: hypercalcaemia; calcium excretion; differential diagnosisMost patients with biochemical evidence of primary hyperparathyroidism (PHPT) are referred to a parathyroid surgeon, even if symptoms are mild or absent.t-' The advent of technology enabling measurement of the intact PTH molecule in serum has improved our ability to diagnose PHPT biochemically.v' but the lower limit of serum PTH concentration in patients with proven PHPT has not been established. The inherited condition familial benign hypercalcaemia (FBH) is recognized as one which can be difficult to distinguish from PHPT biochemically. 5 FBH is characterized by asymptomatic hypercalcaemia beginning early in life. It is inherited in an autosomal dominant pattern with high penetrance. Patients with FBH should not be advised to undergo parathyroid surgery. The condition probably accounts for around 10070 of cases of unsuccessful parathyroid explorations.' We have studied a number of blood and urine measurements to try to achieve Correspondence: Dr Ian R Gunn.
52clear distinction among patients without parathyroid pathology, patients with PHPT and those with FBH.
SUBJECTS AND METHODSHealthy volunteers comprised 38 laboratory workers (19 women, 19 men, age range 18-60).Fifty-eight patients (43 females, 15 males, age range 24-90) had histologically proven PH PT. Fifty had a single adenoma, and the remaining eight had two or three enlarged overactive glands. None had diffuse hyperplasia of all four glands. Three of the eight with more than one enlarged gland developed post-operative hypocalcaemia which required treatment with vitamin D. In two cases, the diagnosis of PHPT had been confirmed at post-mortem examination, but in the other 53 cases stable normocalcaemia was achieved postoperatively without calcium or vitamin D therapy.Twenty patients (12 females, 8 males, age range 9-69) from four different families ...