ABSTRACT
Familial hyperparathyroidism (FHPT) is one of the causes of primary hyperparathyroidism (PHPT). It could be caused by non-syndromal cause like familial isolated hyperparathyroidism (FIHP) or syndromic ones associated with multiple endocrine neoplasias (MEN 1, MEN2 A), familial hypercalcemic hypocalciuria (FHH), neonatal severe PHPT (NSPHPT), hyperpararthyroidism-jaw tumor (HPT-JT) syndrome etc. Various genes have been identified and assigned causative roles in all these syndromes. Some of them are somatic and others are germline mutations. They have a wide range of manifestations ranging from mild to very severe hypercalcemia, completely symptomatic to highly aggressive crippling bone disease. High index of suspicion will lead to timely investigation of majority if these conditions with serum calcium and parathormone levels persist, mandating genetic testing in few of these patients. The necessity of imaging in some and pure biochemical diagnosis in a few of them along with clear indications for surgery as well as the type of surgery becomes exceedingly important from the surgical perspective. A highly skilled surgeon in the discipline of endocrine surgery would be able to perform a subtotal/total parathyroidectomy with clear identification of all glands including thymectomy, resulting in cure, reducing morbidity significantly. This chapter is an overview of all the syndromic and non-syndromic presentation of FHPT.
