Distinguishing between asymptomatic primary hyperparathyroidism and familial hypocalciuric hypercalcemia in adults

Both primary hyperparathyroidism and FHH may have hypercalcemia with a PTH concentration that is mildly elevated or in the upper part of the normal range. Distinguishing between these two conditions is important because FHH is a benign inherited condition that typically does not require parathyroidectomy and will not be cured by it. Refer to UpToDate content related to differentiating primary hyperparathyroidism and FHH.

Ca/Cr: calcium/creatinine ratio; FHH: familial hypocalciuric hypercalcemia; PTH: parathyroid hormone; CaSR: calcium-sensing receptor.

* If the patient is taking a thiazide diuretic or lithium, discontinue (if the drug can be stopped without exacerbating the underlying condition) and remeasure calcium and PTH in 3 months. Persistent hypercalcemia with elevated or high-normal PTH after drug withdrawal suggests that the drug has unmasked primary hyperparathyroidism.

¶ Refer to UpToDate content on treatment of vitamin D deficiency. Adequate total calcium (diet plus supplement) intake in this setting is approximately 800 to 1000 mg daily.

Δ A family history of asymptomatic hypercalcemia, especially in young children, is supportive of FHH.

◊ The majority of patients with primary hyperparathyroidism do not require genetic testing to confirm diagnosis.

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Distinguishing between asymptomatic primary hyperparathyroidism and familial hypocalciuric hypercalcemia in adults