Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female.

[familial hypocalciuric hypercalcemia]

Familial hypocalciuric hypercalcemia (FHH ) is a cause of lifelong hypercalcemia resulting from inactivated mutations in the calcium sensing receptor gene . Diffuse idiopathic skeletal hyperostosis (DISH ) is an under diagnosed condition that leads to ossification of ligaments and entheses of the spine and peripheral skeleton . We describe a 45 -year -old diabetic woman with hypercalcemia secondary to FHH who developed dysphagia because of external esophageal compression from DISH . The patient had no additional identifiable risk factors for DISH except for diabetes mellitus . An association between FHH and DISH has not been previously reported . Although most cases of hypercalcemia are found to have decreased bone mineralization , inactivation of calcium sensing receptor may induce a promitogenic response to hypercalcemia resulting in increased bone density . However , a causal association between FHH and DISH remains unproven .

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Diseases presenting "inactivation of calcium sensing receptor may induce a promitogenic response to hypercalcemia resulting in increased bone density" symptom

familial hypocalciuric hypercalcemia

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