SFEBES2022 Poster Presentations Bone and Calcium (40 abstracts)
A case of Familial hypocalciuric hypercalcemia with markedly elevated serum calcium
Suhail Ahmed 1 , Muhammad Mizanour Rahman 1 , Shahzeel Raza Qureshi 2 , Shahid Ahmed Khan 3 , Saba Qureshi 4 , George Botros 5 , Satis Kumar 1 & Umesh Kumar Dashora 1
1Conquest Hospital, East Sussex, United Kingdom; 2Mullingar Regional Hospital, Mullingar, Ireland; 3Royal College of Surgeons, Dublin, Ireland; 4South Infirmary Victoria University Hospital, Cork, Ireland; 5Eastbourne District General Hospital, Eastbourne, United Kingdom
A 50-year-old lady presented with fatigue, tiredness and constipation, has more than twenty years history of hypercalcemia. She was clinically and biochemically diagnosed as familial hypocalciuric hypercalcemia with high calcium, normal parathormone, low urinary calcium, low fractional excretion of calcium, positive family history. Genetic confirmation was done by positive molecular genetic analysis of CASR gene. She has persistent high calcium level ranging between 2.8 and 3.10 mmol/l, which is rare finding in FHH. No intervention was needed as no evidence of end organ damage. FHH is an autosomal dominant condition with occurs as a result of mutation at calcium-sensing receptor gene (CaSR) causing decreased receptor activity. Patient have mild hypercalcemia, hypocalciuria, hypophosphatemia. Parathyroid hormone level is normal or mildly elevated. Mutations in the (CaSR) gene in the parathyroid gland increases the set point for calcium sensing. It makes the parathyroid glands less sensitive to calcium, and a higher than normal serum calcium level is required to reduce PTH release. In the kidney, this defect leads to an increase in tubular calcium and magnesium reabsorption resulting in hypercalcemia, hypocalciuria, and frequently high normal levels of serum magnesium.
29/06/18 01/11/16 22/09/15 15/10/14 05/04/05 10/12/04
Parathormone (63-82 pg/ml) 48 66 67
Serum Calcium 2.97 2.96 2.95 2.95 2.77 2.83
Corrected Calcium (2.2-2.6 mmol/l) 2.97 3.02 2.91 2.97 2.73 2.75
Inorganic Phosphate (0.8-1.5 mmol/l) 0.88 0.78 0.91 0.65 0.79
Serum 25-hydroxy vit D 77
Why this case of FHH is different
Familial hypocalciuric hypercalcemia 1 with heterozygous mutation is a benign condition with mild elevation of calcium with normal or mild increase of PTH. Patients with homozygous mutation may have severe hypercalcemia with marked elevated PTH. Despite heterozygous mutation this patient has persistently presented with marked hypercalcemia (2.8-3 .10 mmol/l) with mildly raised PTH.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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