When referred for thyroidectomy, patients with large thyroid nodules demonstrate a modest, yet significant, false-negative rate despite initial benign aspiration cytology. Therefore, thyroid nodules ≥3 cm may be considered for removal even when referred with benign preoperative cytology.
Here we report a case of a homozygous RET K666N mutation leading to coincident MTC and PHEO. Heterozygous presentations of RET K666N mutations have low penetrance for isolated MTC. We believe that the gene dosage associated with the homozygosity of this variant contributed to the occurrence of bilateral PHEO.
Primary hyperparathyroidism is surgically correctable and frequently presents with mild hypercalcemia. The symptoms of hyperparathyroidism are nonspecific often leading to a delay in diagnosis until patients present with an acute condition. Literature suggests that up to 20 per cent of patients presenting to the emergency department (ED) found to have hypercalcemia are ultimately diagnosed with hyperparathyroidism. We performed a retrospective review from 2012 to 2013 of patients with hypercalcemia in our ED and analyzed their characteristics. One hundred sixty-eight patients were identified with hypercalcemia. Patient medical history, chief complaint, review of symptoms, discharge disposition, and primary care physician (PCP) status were evaluated. Eighty-four per cent were classified as mild (10.8 to 11.9 mg/dL), 11 per cent as moderate (12 to 14 mg/dL), and five per cent as severe (greater than 14 mg/dL). A definitive diagnosis of hyperparathyroidism was identified in 3.5 per cent (six of 168). Documentation of hypercalcemia as a diagnosis was present in all patients in the severe and 78 per cent in the moderate categories. However, only 21 per cent of patients with mild hypercalcemia had documentation addressing this diagnosis. Of concern, 24 per cent (41 of 168) of patients were identified with mild hypercalcemia and discharged from the ED with no definitive plan based on lack of a PCP. Additionally, 81 per cent of these patients had symptoms referable to hypercalcemia. Mild hypercalcemia found during ED workup rarely requires immediate medical treatment. However, a significant number of those patients will have hyperparathyroidism amendable to surgical correction. Therefore, an appropriate mechanism for outpatient hypercalcemia workup should be integrated into the patient's ED discharge plan.
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