Familial or heritable hyperparathyroidism (FHPT) is seen in approximately 10-15 % of patients with primary hyperparathyroidism (PHPT). Once the diagnosis of PHPT is established, consideration of heritable forms should be made in patients with positive family history, young onset, multi-glandular disease, and recurrent or persistent disease. FHPT encompasses both syndromic and non-syndromic forms. Syndromic forms include multiple endocrine neoplasia (MEN) types 1, 2, 3 and 4, hyperparathyroidism-jaw tumor syndrome, hereditary pheochromocytoma and paraganglioma, and the more recently reported, Birt-Hogg-Dubé (BHD) syndrome, and X-linked intellectual disability syndrome. Non-syndromic forms include familial hypocalciuric hypercalcemia (FHH)- types 1,2, and 3, neonatal severe hyperparathyroidism, GCM2-mediated hyperparathyroidism, transient neonatal hyperparathyroidism, and familial isolated hyperparathyroidism. In this review we aim to review the heritable forms of PHPT and highlight the important genetics insights and clinical implications.
Keywords: Birt Hogg Dubé; GCM2; Jaw tumor syndrome; PTH; ZFX; calcium sensing receptor; multiple endocrine neoplasias; parathyroid tumors.
Published by Elsevier Ltd.