Parathyroid surgery in familial hyperparathyroid disorders.

Area of Science:

• Endocrinology
• Surgical Oncology
• Genetics

Background:

• Familial hyperparathyroidism (HPT) presents complex management challenges due to genetic predispositions to persistent or recurrent disease.
• Specific syndromes like Multiple Endocrine Neoplasia (MEN1, MEN2A), familial isolated HPT, and HPT-Jaw Tumor (HPT-JT) syndrome require distinct surgical strategies.
• Underlying genetic mutations, such as in the calcium-sensing receptor (CASR) gene, influence surgical considerations and outcomes.

Purpose of the Study:

• To outline the surgical management principles for various familial hyperparathyroidism syndromes.
• To emphasize the importance of achieving and maintaining normocalcemia while avoiding complications.
• To discuss the applicability of minimally invasive techniques in familial HPT.

Main Methods:

• Surgical strategies including subtotal parathyroidectomy, total parathyroidectomy with autotransplantation, and radical subtotal parathyroidectomy are discussed.
• Intraoperative parathyroid hormone (PTH) monitoring is highlighted as a tool to guide surgical resection.
• Bilateral cervical exploration is presented as the standard approach, with consideration for minimally invasive parathyroidectomy (MIP) in select cases.

Main Results:

• Different familial HPT syndromes necessitate specific surgical techniques, such as parathyroidectomy for MEN2A and familial isolated HPT, and careful attention to cancer risk in HPT-JT.
• Radical subtotal parathyroidectomy is indicated for familial HPT with CASR gene mutations.
• Intraoperative PTH measurements aid in optimizing parathyroid resection, especially in multiglandular disease.

Conclusions:

• Surgical management of familial HPT must be individualized based on the specific genetic syndrome.
• The goals of surgery are long-term normocalcemia, prevention of hypocalcemia and complications, and enabling future interventions.
• While bilateral exploration is common, MIP may be feasible for a subset of familial HPT patients.