Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2023) 91 CB60 | DOI: 10.1530/endoabs.91.CB60

SFEEU2023 Society for Endocrinology Clinical Update 2023 Additional Cases (69 abstracts)

Familial Hypocalciuric Hypercalcemia: the importance of taking detailed family history when assessing patients

Petra Hanson 1,2 & Christopher Harrold 2

1Warwick University, Coventry, United Kingdom; 2University Hospital Coventry, Coventry, United Kingdom

54 year south Asian woman was found to have mild hypercalcaemia of 2.64mmol/l, vitamin D of 21 nmol/land PTH of 4.9 pmol/lin 2013. She had a DEXA scan showing osteopenia of the fourth lumbar vertebrae. She did not have any symptoms suggestive of hypercalcaemia but reported generalised aches and pains. She had a past medical history of hysterectomy, right oophorectomy, dyspepsia and asthma. She was initially treated with vitamin D. Repeat calcium, vitamin D and PTH normalised and she was diagnosed with secondary hyperparathyroidism due to vitamin D deficiency and discharged. In 2017 she was referred back due to raised PTH and calcium, with normal vitamin D. She was diagnosed with primary hyperparathyroidism and had a neck ultrasound scan. As this did not find any adenoma, she underwent nuclear medicine scan, which also failed to localise adenoma. She had a 24-hour urinary calcium excretion which came back normal at 5.4mmol. MRI neck indicated possible presence of parathyroid adenoma at the upper pole of the right thyroid gland. She continued to have non-specific aches and pains and was referred for right parathyroidectomy in 2017. In 2019 she underwent resection of right superior parathyroid adenoma. Unfortunately, she continued to have mildly elevated calcium post-operatively. Histology showed normal gland and she was referred for another surgical opinion. In March 2020 she had 4D CT which failed to locate any residual parathyroid adenoma. She underwent inferior thyroid vein exploration. This suggested a raise in PTH level towards the right lower part of the neck, however, repeat ultrasound scan failed to show adenoma. In 2020 it became apparent that she had a strong family history of hypercalcaemia and failed parathyroidectomies in her mother and brother, and unexplained hypercalcaemia in her son. She has a repeat 24-h urinary calcium excretion which came back normal at 2.6mmol/l. She also had a repeat bone density scan which showed worsening of osteopenia in lumbar spine. Eventually, she underwent calcium creatinine excretion ratio which was 0.0073, suggesting familial hypercalciuric hypercalcaemia. She was referred for genetic testing and asked to undergo testing for MEN syndrome.

YearAdjusted calcium (mmol/l)vitamin D (nmol/l)PTH (pmol/l)
2019 (post-op)2.86

Article tools

My recent searches

No recent searches.