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Parathyroid surgery in familial hyperparathyroid disorders.

The management of hyperparathyroidism (HPT) in the setting of familial HPT differs between the specific syndromes and is generally complex because of the underlying disease, which predisposes patients to persistent and recurrent HPT. The basic principles of surgery include achieving and maintaining normocalcaemia for the longest time possible, avoiding both iatrogenic hypocalcaemia and operative complications, and facilitating future surgery for recurrent disease. Multiple endocrine neoplasia type 1 (MEN1) is treated with either subtotal parathyroidectomy or total parathyroidectomy with immediate heterotopic autotransplantation of parathyroid tissue. MEN2A, familial isolated HPT and HPT-associated with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome typically can be treated with parathyroidectomy, i.e. subtotal or less. The increased risk of parathyroid cancer in HPT-JT requires special attention. Parathyroid surgery in familial HPT syndromes in the setting of underlying mutations in the calcium receptor (CASR) gene involves radical subtotal parathyroidectomy. Intraoperative parathyroid hormone (PTH) measurements may help guide the extent of parathyroid resection, particularly in the case of multigland HPT. The vast majority of patients with familial HPT who require surgery are best served with bilateral cervical explorations. However, minimally invasive parathyroidectomy (MIP) techniques that have become routine for sporadic HPT at selected institutions may be extrapolated to a subset of cases of familial HPT.

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