CHALLENGES OF SURGICAL MANAGEMENT IN PATIENTS WITH CDC73-RELATED PRIMARY HYPERPARATHYROIDISM

AUTHORS:
W. Chudzinski (Warsaw, Poland) , M. Popow (Warsaw, Poland) , J. Rymuza (Warsaw, Poland) , A. Skowronska-Szczesniak (Warsaw, Poland) , H. Kozubek (Warsaw, Poland) , T. Ostrowski (Warsaw, Poland) , Z. Galazka (Warsaw, Poland)
Background:
Primary hyperparathyroidism (PHPT) is common disease. However, the recognition of rarely occurring inherited syndromes, including CDC73 gene mutation, is crucial. Such patients require special management. The extent of the surgery is still under discussion.
Methods:
Our aim is to present 5 cases of patients with CDC73 gene mutation-related PHPT. All of them underwent surgery curried out by the same specialist in the tertiary care center. We compared the patients regarding clinical findings and operative strategies. The mean follow up period was 10±11 years (2,5-3 years).
Results:
Five patients with CDC73-related PHPT were included (4 males and 1 female, mean age of 34±12). Three patients required urgent operation due to hypercalcemic crisis. In 4 patients parathyroidectomy was performed with removal of single gland, guided by intraoperative PTH monitoring. In the fifth patient, two glands were resected with thyroid lobe. In 2 patients after removal single adenoma recurrence of PHPT was detected (4 and 20 years after initial procedure). Redo surgery identified single gland enlargement and it was removed successfully. After surgical treatment mean PTH level decreased from 578±178 to 32±14 pg/ml, whereas calcium level dropped from 3.4±0.6 to 2.3±01 mmol/l. No parathyroid cancer was detected in histopathological examination.
Conclusions:
Our results suggest that selective parathyroidectomy in most patients with CDC73 gene mutation related PHPT is effective. However, close monitoring of patients is crucial due to an increased risk of asynchronous development of next adenoma and parathyroid carcinoma.