We report the case of a middle age woman with the first presentation in our clinic for recurrence of hypercalcemia following surgery for parathyroid adenoma.
Her personal history was positive for chronic thyroiditis and with long lasting asymptomatic hypercalcemia not exceeding 11 mg /dL for total plasmatic calcium since 2006. In 2011 her hypercalcemia was worsened (maximum level 13.49 mg/dL) and she was diagnosed with primary hyperparathyroidism due to a left inferior parathyroid adenoma. The histopathological report confirmed the parathyroid adenoma with clear cell and scarce cytoplasm.
Her brother was known as papillary thyroid carcinoma and intermittent hypercalcemia with inappropriate PTH value when tested.
After a six months trial of alfacalcidol, our patient normalizes urinary excretion of total calcium with the maintenance of minimally raised total calcium and PTH in the low reference values.
The unusual occurrence of both familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism in the same patient is reported in literature along with the mutation responsible for the defect. Decreased expression or function of the CaSR may play a pathogenic role in the proliferation of parathyroid cells and can explain the development of parathyroid adenomas. Close monitoring of affected family members over time will provide more information in this regard. Surgical intervention for concomitant primary hyperparathyroidism in FHH patients does not resolve hypercalcemia but is beneficial reducing the degree of hypercalcemia, alleviating the symptoms, and preventing potential complications of hyperparathyroidism.