A 27 year old male patient with severe cardiomyopathy secondary to Epirubicin chemotherapy for rhabdomyosarcoma in infancy was noted to be hypercalcaemic during the course of admission for severe inotrope dependant congestive cardiac failure. Biochemical investigations confirmed a diagnosis of primary hyperparathyroidism (corrected Calcium 3.10 mmol/l, PTH 22 pmol/l, Vitamin D 77 nmol/l).
His brother had undergone trans-sphenoidal pituitary surgery for acromegaly and his paternal grandfather may have been diagnosed with a pituitary tumour. In a young person with primary hyperparathyroidism with family history of pituitary tumours, MEN 1 was considered to be highly likely. He was investigated for possible pituitary and pancreatic involvement, but pituitary profile, fasting hormonal gut profile, pituitary MRI and CT pancreas were normal.
He was on the waiting list for cardiac transplantation, but with development of hypercalcaemia could not be actively considered until its resolution. Urgent cardiac transplantation was deemed to be in his best interests given the severity of cardiac failure, but with insufficient time for genetic MEN-1 mutation analysis to plan further management, consideration was given to the extent of parathyroid surgery. Pre-operative imaging suggested a left lower parathyroid adenoma, and single gland vs subtotal parathyroidectomy were weighed as options. A decision was made in favour of subtotal parathyroidectomy with higher probability of normalising serum calcium and also to avoid second surgery if MEN-1 is later confirmed. A single left inferior parathyroid adenoma was noted during full neck exploration and three and a half glands were excised. Post-operatively, he remains normocalcaemic, PTH has normalized to 3.2 pmol/l and histology confirms the operative findings. The result of genetic test for MEN-1 is still outstanding.
This case highlights a management dilemma in which urgent surgical intervention had to be undertaken before a definitive diagnosis of MEN-1 could be made.