Hyperparathyroidism and multiple endocrine neoplasia

Multiple endocrine neoplasia (MEN) syndromes comprise the group of heritable endocrinopathies, MEN 1, MEN 2A, and MEN 2B. Primary hyperparathyroidism caused by multiglandular involvement is usually the initial manifestation in MEN 1, occurring in more than 90% of patients. In patients with MEN 2A, hyperparathyroidism develops less commonly and is usually milder than in MEN 1. Advances in genetics and molecular biology aid in confirming the diagnosis and screening relatives who are carriers or at risk for the disease. Surgery plays an important role in the management of hyperparathyroidism in both MEN 1 and MEN 2A, although the timing and extent of surgery are areas of controversy. Long-term follow-up reveals a high rate of recurrent hyperparathyroidism in MEN 1 despite surgical intervention.