Abstract
Primary hyperparathyroidism may occur as a part of an inherited syndrome in a combination with pancreatic endocrine tumours and/or pituitary adenoma, which is classified as Multiple Endocrine Neoplasia type 1 (MEN-1). This syndrome is caused by a germline mutation in MEN-1 gene encoding a tumour-suppressor protein, menin. Primary hyperparathyroidism is the most frequent clinical presentation of MEN-1, which usually appears in the second decade of life as an asymptomatic hypercalcemia and progresses through the next decades. The most frequent clinical presentation of MEN-1-associated primary hyperparathyroidism is bone demineralisation and recurrent kidney stones rarely followed by chronic kidney disease. The aim of this paper is to present the pathomechanism, screening procedures, diagnosis, and management of primary hyperparathyroidism in the MEN-1 syndrome. It also summarises the recent advances in the pharmacological therapy with a new group of drugs—calcimimetics.
Highlights
Primary hyperparathyroidism is rarely a part of multiple endocrine neoplasia type 1 (MEN-1) syndrome with familial occurrence
The classic clinical manifestation of MEN-1 is a composition of parathyroid hyperplasia, pancreatic endocrine tumour, and pituitary adenoma [1]
In patients with primary hyperparathyroidism (HPT) approximately 1–5% is associated with the MEN-1 syndrome [3, 5]
Summary
Primary hyperparathyroidism is rarely a part of multiple endocrine neoplasia type 1 (MEN-1) syndrome with familial occurrence. The classic clinical manifestation of MEN-1 is a composition of parathyroid hyperplasia, pancreatic endocrine tumour, and pituitary adenoma [1]. In patients with primary hyperparathyroidism (HPT) approximately 1–5% is associated with the MEN-1 syndrome [3, 5]. Combining this data with HPT incidence, the prevalence of MEN-1 can be estimated to be 10–30 per 100,000 in the general population. In about 60% of MEN-1 patients enteropancreatic tumours are found. Opposite to parathyroid tumours MEN-1associated gastrinomas are typically multiple, often malignant [6]. Other rare enteropancreatic tumours diagnosed in MEN-1 may secrete somatostatin, glucagon, vasoactive intestinal peptide (VIP), growth hormone-releasing factor (GHRH), International Journal of Endocrinology. The interaction of menin with mixed-lineage leukaemia protein-containing histone methyl transferase (MLL-HMT) complex mediates tissue-selective tumour-suppressing and tumour-promoting effects and may be responsible for the tissue susceptibility to tumourigenesis in MEN-1 [14]
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