IS THERE A GENETIC BASIS FOR PRIMARY HYPERPARATHYROIDISM?
In most patients (> 95 %) primary hyperparathyroidism (PHPT) occurs
sporadically, which means that the disease occurs by chance. However, in a
small percentage of patients, PHPT may be a particular manifestation of a
familial (inherited) syndrome. The most common of these genetic syndromes are
multiple endocrine neoplasia (MEN) type 1 and type 2 A. MEN1 SYNDROME is caused
by mutations of the MEN1 gene and is characterized by tumors of the pituitary,
parathyroid and pancreas (the “three P’s”). In MEN1 syndrome, PHPT is
frequently the first clinical manifestation, with patients commonly being
affected in their twenties or thirties. PHPT is much less common in MEN2A SYNDROME
(which is caused by mutations in the RET gene), affecting about one-third of
these patients (other clinical manifestations of MEN2A syndrome include
medullary thyroid cancer and pheochromocytoma). FAMILIAL PHPT alone (without
tumors of other endocrine glands) is a rare form of inherited PHPT, caused by specific
mutations (in the MEN1, CDC73, or CASR gene). In PHPT
associated with a familial syndrome diffuse gland hyperplasia is a typical
finding, in contrast to sporadic PHPT which is most commonly due to a solitary
(85 %) or double (5 %) parathyroid adenoma.
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