Primary hyperparathyroidism (PHPT) is characterised by the overproduction of
parathyroid hormone (PTH) due to parathyroid
hyperplasia,
adenoma or
carcinoma and results in hypercalcaemia and a raised or inappropriately normal PTH. Symptoms of hypercalcaemia occur in 20% of patients and include
fatigue,
nausea,
constipation, depression, renal impairment and cardiac arrythmias. In the most severe cases, uraemia,
coma or
cardiac arrest can result.
Primary hyperparathyroidism in pregnancy is rare, with a reported incidence of 1%. Maternal and fetal/neonatal complications are estimated to occur in 67 and 80% of untreated cases respectively. Maternal complications include
nephrolithiasis,
pancreatitis,
hyperemesis gravidarum,
pre-eclampsia and hypercalcemic crises. Fetal complications include
intrauterine growth restriction; preterm delivery and a three to five-fold increased risk of
miscarriage. There is a direct relationship between the degree of severity of hypercalcaemia and
miscarriage risk, with
miscarriage being more common in those patients with a serum
calcium greater than 2.85 mmol/L. Neonatal complications include
hypocalcemia. Herein, we present a case series of three women who were diagnosed with
primary hyperparathyroidism in pregnancy. Case 1 was diagnosed with
multiple endocrine neoplasia type 1 (MEN1) in pregnancy and required a bilateral neck exploration and subtotal
parathyroidectomy in the second trimester of her pregnancy due to symptomatic severe hypercalcaemia. Both case 2 and case 3 were diagnosed with
primary hyperparathyroidism due to a
parathyroid adenoma and required a unilateral
parathyroidectomy in the second trimester. This case series highlights the work-up and the tailored management approach to patients with
primary hyperparathyroidism in pregnancy. Learning points:
Primary hyperparathyroidism in pregnancy is associated with a high incidence of associated maternal fetal and neonatal complications directly proportionate to degree of maternal serum
calcium levels.
Parathyroidectomy is the definitive treatment for
primary hyperparathyroidism in pregnancy and was used in the management of all three cases in this series. It is recommended when serum
calcium is persistently greater than 2.75 mmol/L and or for the management of maternal or fetal complications of hypercalcaemia. Surgical management, when necessary is ideally performed in the second trimester.
Primary hyperparathyroidism is genetically determined in ~10% of cases, where the likelihood is increased in those under 40 years, where there is relevant family history and those with other related endocrinopathies. Genetic testing is a useful diagnostic adjunct and can guide treatment and management options for patients diagnosed with
primary hyperparathyroidism in pregnancy, as described in case 1 in this series, who was diagnosed with MEN1 syndrome. Women of reproductive age with
primary hyperparathyroidism need to be informed of the risks and complications associated with
primary hyperparathyroidism in pregnancy and pregnancy should be deferred and or avoided until curative surgery has been performed and
calcium levels have normalised.