Molecular biology of primary hyperparathyroidism

The advances in molecular genetics during the past 10 to 15 years have increased the understanding of familial diseases. Although the precise genetic mapping of an individual patient may not influence the surgical or clinical management of an affected individual, the management of the patient's relatives may benefit from analysis. The proper selection of patients at risk will significantly decrease costly unnecessary biochemical screening in those not carrying the genetic mutations. In addition, morbidity and days of work lost because of office visits will also be minimized. Perhaps, with the earlier identification of clinical disease in affected individuals, timely intervention may improve the clinical outcome in patients with parathyroid disease. Patients found to have affected family members, recurrent disease, onset of disease before the age of 35 years, ossifying fibromas, or other endocrine tumors should have genetic analysis. With the identification of different genetic mutations involving the MEN1 gene, the HRPT2 gene, and others soon to be reported, it is possible that patients with familial HPT can be shown to harbor one of these syndromes. Identifying these patients will enable careful follow-up screening of family members and appropriate genetic counseling.