A 28-year-old woman is found to have a serum calcium of 10.9 mg/dL on routine labs. PTH is elevated at 95 pg/mL. She is asymptomatic. A 24-hour urinary calcium is 60 mg/day (hypocalciuria). Her mother had similar findings. CASR gene mutation analysis is positive. What is the most appropriate management?
- A Parathyroidectomy, as PTH is elevated
- B No surgery; reassurance and observation ✓
- C Cinacalcet to normalize calcium
- D Bisphosphonate therapy to protect bone
Correct answer: B. No surgery; reassurance and observation
Explanation
This presentation is consistent with Familial Hypocalciuric Hypercalcemia (FHH), an autosomal dominant condition caused by inactivating mutations in the calcium-sensing receptor (CASR) gene. The urinary calcium-to-creatinine clearance ratio <0.01 is the hallmark. FHH is benign and does not require parathyroidectomy; surgery is ineffective and contraindicated. Cinacalcet is not standard treatment. Annual surveillance is sufficient.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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Written and medically reviewed by the StethoPrep medical team.