Primary hyperparathyroidism

Primary hyperparathyroidism (PHPT), a disease that classically manifests with hypercalcemia, bone disease and kidney stones, has over the past few decades changed into an asymptomatic, incidentally discovered condition. Although an exact etiology cannot always be identified, radiation exposure, genetic mutations and, most recently, prolonged vitamin D and/or calcium deficiency have been implicated. This article reviews epidemiology, pathophysiology, possible etiologies, and clinical presentation, as well as recommended approaches to diagnosis and management. The indications for surgery in patients with asymptomatic disease, long-term follow-up, and the treatment of co-existing vitamin D deficiency in patients with PHPT are also discussed. Finally, we briefly review the clinical manifestations and management of PHPT in pregnant women.