Double Jeopardy: a Patient's Tale of Two Concurrent Hypercalcaemic Syndromes

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2020 Aug 27

PMID 32843465

Authors

Aditi Sharma

Fatima Bahowairath

Chukwuma Uduku

Julia E Ostberg

Affiliations

Soon will be listed here.

Abstract

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.

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