Chapter 6: Syndromic primary hyperparathyroidism

Syndromic primary hyperparathyroidism has several features in common: younger age at diagnosis when compared with sporadic primary hyperparathyroidism, often synchronous or metachronous multi-glandular involvement, higher possibility of recurrence, association with other endocrine or extra-endocrine disorders, and suggestive family background with autosomal dominant inheritance. Hyperparathyroidism in multiple endocrine neoplasia type 1 is the most common syndromic hyperparathyroidism. It is often asymptomatic in adolescents and young adults, but may be responsible for recurrent lithiasis and/or bone loss. Hyperparathyroidism-jaw tumor syndrome is less frequent, but often immediately symptomatic, with higher blood calcium levels, and is sometimes associated with an atypic parathyroid tumor or parathyroid carcinoma. Hyperparathyroidism in multiple endocrine neoplasia type 2A is not at the forefront of the clinical picture, rarely revealing the disease, and often manifests with few symptoms. Multiple endocrine neoplasia type 4 is a more recently described entity, in which hyperparathyroidism seems to occur later and be less severe than in previous syndromes. In all cases, the indications and modalities of surgical treatment should be discussed in an expert center. The risk of recurrence after surgery, particularly high in multiple endocrine neoplasia type 1, requires long-term monitoring.

Published by Annales d'endocrinologie, 2025. The guideline itself is at the source linked here.

doi.org/10.1016/j.ando.2025.101695