ea0094p38 | Bone and Calcium | SFEBES2023
Linn Su Khin Kyaw
, Hazlehurst Johnathan
, Juszczak Agata
Background: Familial hypocalciuric hypercalcaemia (FHH) is a rare benign autosomal dominant condition which causes life-long mild to moderate hypercalcaemia. It is usually underdiagnosed due to lack of symptoms in majority of patients and low rate of screening even among endocrinologists. Recent NHS England National Genomic Directory testing criteria for FHH recommend testing patients presenting with hypercalcaemia and calcium creatinine clearance ratio (CCCR)...