Endocrine Abstracts

A 51 year old male presented for an NHS healthcheck and was noted to have an alkaline phosphatase (ALP) level of 16iu/L (normal range 30-100). Review of his records revealed similar low readings. He had a recent third metatarsal fracture following an inversion injury and on xray was noted to have previous second and fourth metatarsal fractures. He had a fifth metatarsal fracture four years prior. He was of short stature as were his sister, father and grandmother. He reported having poor dentition as a child and adult. After further investigations in Primary Care, genetic testing confirmed a diagnosis of Hypophosphatasia (HPP). Having identified the diagnosis of HPP in the above patient, an audit was undertaken of all patients in the practice with a list size of 11,518 for low alkaline phosphatase within the previous five years. 23 patients were identified of which 14 were excluded due to a previous or subsequent normal ALP. 4 patients either declined or failed to respond to a request to repeat their ALP. 5 patients were referred for further genetic testing and in total 3 patients were confirmed to have HPP. On comparing this to the expected UK prevalence of 1 in 6,370, this practice had a prevalence of 1 in 3,839 which may suggest that milder forms of HPP may be underdiagnosed. A retrospective cohort study has been approved by CPRD to be undertaken by Alexion Pharmaceuticals to ‘provide an updated estimate of the prevalence of HPP in the UK‘. This is expected to confer a public health benefit by establishing an up-to-date overview of HPP in the UK; with a view to increase rates of detection and potential treatment.