Familial states of primary hyperparathyroidism
Arnold A., Agarwal SK., Thakker RV.
© 2019 American Society for Bone and Mineral Research. Persons with familial primary hyperparathyroidism (PHPT) defined by the combination of hypercalcemia and elevated or nonsuppressed serum PTH, are a small and important subgroup of all cases with PHPT. Their familial syndromes include multiple endocrine neoplasia (MEN) (types 1, 2A, and 4), familial (benign) hypocalciuric hypercalcemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), hyperparathyroidism-jaw tumor syndrome (HPT-JT), and familial isolated primary hyperparathyroidism (FIHPT). This chapter discusses clinical expressions, pathogenesis/genetics, diagnosis, and management of these familial syndromes. For three hereditary PHPT syndromes (MEN1, MEN2A, and HPT-JT), the germline mutation in the parathyroid cell causes susceptibility to postnatal and gradual overgrowth of mono- or oligoclonal parathyroid tumor. Tumor monitoring is best performed with a syndrome specific protocol; it should be followed in each carrier of a syndrome of PHPT. Many aspects of surgery for parathyroid adenoma require modification, when multiple parathyroid glands have the potential to be overactive.