Hereditary Primary Hyperparathyroidism

Primary hyperparathyroidism (PHPT) is a commonly encountered clinical problem and occurs as part of an inherited disorder in ∼10% of patients. Several features may alert the clinician to the possibility of a hereditary PHPT disorder (eg, young age of disease onset) whilst establishing any relevant family history is essential to the clinical evaluation and will help inform the diagnosis. Genetic testing should be offered to patients at risk of a hereditary PHPT disorder, as this may improve management and allow the identification and investigation of other family members who may also be at risk of disease.