Familial hypocalciuric hypercalcemia historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

In the year 1966 FHH was first described by Jackson and Boonstra in a hypercalcemic patient presumed to have Hyperparathyroidism. He wasn't cured despite the removal of three and a half hyperplastic parathyroid glands. Subsequently, seventeen family members with hypercalcemia were identified in three generations^[1]^[2].

A similar family was identified in the year 1972 by Foley Et al. The family members of both the families were asymptomatic and hypercalcemic which is very typical of FHH^[2].

In 1990 ten cases of pancreatitis were reported in patients with family members of FHH^[3].

In 1995 studies were conducted to characterize the mutations of Calcium sensing mutations in FHH and Neonatal hyperparathyroidism^[4].