Familial Hyperparathyroidism

Shih-Ming Huang, MD

Although most cases of primary hyperparathyroidism (HPT) occur sporadically, familial clusters have been reported. Most of these familial cases occur in association with multiple endocrine neoplasia (MEN). Goldman and Smyth in 1936 were the first to report a patient with familial HPT who had no other manifestations of MEN.1 Many more familial cases have subsequently been reported.2"33 Similarly to the classification of medullary thyroid cancer, HPT can be classified into four types: (1) sporadic HPT, (2) familial HPT with MEN 1 and 2, (3) non-MEN familial HPT (NMFH) or familial isolated HPT(FIH), and (4) non-MEN familial HPT associated with jaw tumor syndrome. Because NMFH is uncommon, these patients are frequently included in the series of patients with familial HPT with MEN, or they are confused with patients with benign familial hypocalciuric hypercalcemia (BFHH).7,34 From our experience at the University of California, San Francisco (UCSF) (Table 55-1) and from a review of the literature,3"20 we confirm that NMFH is a distinct entity.22

This chapter emphasizes the clinical characteristics and management of NMFH. In the literature, NMFH has been associated with an increased risk of parathyroid cancer, especially when associated with the jaw tumor syndrome.21'33,35^3 Familial HPT occurring in infants (familial neonatal HPT) is different from NMFH in adults. Neonatal HPT occurs in children of parents with BFHH, and most patients have high serum calcium levels.44"56 Patients with neonatal primary HPT have a specific chromosomal defect on chromosome 3 and always present before 10 years of age. Patients with NMFH almost always develop hypercalcemia after 10 years of age. Patients with NMFH are diagnosed by means of family history. A thorough personal family history must be taken concerning the clinical manifestations of MEN 1 and 2. Laboratory tests should include prolactin, gastrin, chromogranin, and pancreatic peptide to rule out MEN-associated parathyroid disease. Progressive genetic mapping has proved useful in excluding the possibility of MEN 1, MEN 2, or BFHH.

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