Primary hyperparathyroidism (PHPT) is the most common cause of parathyroid hormone (PTH) dependent hypercalcaemia, however there are few reported cases of its co-occurrence in patients with familial hypocalciuric hypercalcaemia (FHH). This case highlights the challenges in managing a rare case of dual pathology. A 49-year-old Caucasian woman with symptoms of hypercalcaemia presented with an adjusted serum calcium of 2.77 mmol/L and PTH of 11.5 pmol/L. Neck ultrasound and sestamibi scan were concordant with a left lower parathyroid adenoma, and a preoperative dual-energy X-ray absorptiometry scan confirmed osteopenia. Parathyroidectomy resulted in a PTH reduction from 11.5 pmol/L to 2.7 pmol/L. Interestingly, her lowest pre-operative adjusted serum calcium of 2.67 mmol/L remained unchanged 14 months post-parathyroidectomy. Twenty-four hours urine calcium:creatinine clearance ratio performed postoperatively was low and sequencing analysis of the calcium-sensing receptor gene confirmed the coexistence of FHH. Although surgery is not indicated in FHH, parathyroidectomy may help reduce hypercalcaemia and its associated complications if there is coexistent PHPT.
- calcium and bone
- head and neck surgery
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Contributors AS and JEO contributed to conception, interpretation, drafting, revision and final approval of work. AS, FB, CU and JEO contributed to conception, interpretation and final approval of work. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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