Hyperparathyroidism is caused by overactivity of one or more of four parathyroid glands in the body. This increase in parathyroid activity leads to increased levels of parathyroid hormone (PTH) in the bloodstream, which results in abnormal calcium levels in the blood and organs.
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Primary hyperparathyroidism is caused by enlargement of one of the parathyroid glands, which results in overproduction of PTH and hypercalcemia. Individuals with primary hyperparathyroidism are typically treated with surgery.
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Individuals who have hyperparathyroidism due to another underlying condition are said to have secondary hyperparathyroidism. These individuals initially have low levels of calcium in the body, and over time an increase in PTH is seen.
Common presenting symptoms of individuals with hyperparathyroidism are skeletal abnormalities/fragility and kidney stones. Neuromuscular, gastrointestinal, cardiovascular, and psychiatric abnormalities have all been noted in individuals with primary hyperparathyroidism.
Understanding if there is an underlying genetic cause of hyperparathyroidism is useful for making treatment and management decisions, for providing information on other possible complications, and for informing familly members who may be at risk. This panel includes sequence and deletion/duplication analysis of the listed genes.
