MANAGEMENT
OF HYPERPARATHYROIDISM (HPT) IN THE HYPERPARATHYROIDISM-JAW TUMOR SYNDROME
(HPT-JT)
HPT-JT is a
very rare cause of hereditary primary HPT, associated with a fibroma in the
jaw. The exact prevalence remains unknown, with only 200 cases reported in the
literature. HPT-JT is caused by mutations in the CDC73 gene (also known as the
HRPT2 gene) and is inherited in an autosomal dominant pattern. HPT in the
HPT-JT is usually due to single gland disease in the majority of patients (90
%). Selective parathyroidectomy during which only grossly enlarged parathyroid
gland(s) is (are) removed is the treatment of choice. Intraoperative PTH
monitoring is required to verify success of surgery. Parathyroid carcinoma is much
more frequent among HPT-JT patients (15 – 20 %) compared to the patients with
sporadic HPT (< 1 %). Radical parathyroidectomy which includes en bloc
resection of the affected gland with adjacent tissues (thyroid lobe, muscles,
etc) is required to maximize therapeutic results. Recurrent disease will be
observed in a significant percentage of patients (~ 20 %) within the first 15
years following initial surgery. This is typically due to metachronous single
gland involvement. Indications for reoperative surgery should be reevaluated.
Accurate preoperative localization of the hyperfunctioning parathyroid
parenchyma is mandatory before attempting reoperation in these patients.HPT-JT
is often associated with uterus tumors (occurring in about 75 % of women with
HPT-JT) and benign-malignant kidney lesions (most commonly cysts, but also Wilms
tumor etc).
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