HPP diagnosis: from a multidisciplinary perspective

What are some of the complexities of diagnosing paediatric patients <6 months of age? In this video, Prof. Padidela, a paediatrician in endocrinology and metabolic bone diseases from the United Kingdom, describes a case of an infant presenting with seizures, respiratory distress and encephalopathy. He highlights significant steps in the diagnostic journey of hypophosphatasia (HPP):

The significance of recognising low alkaline phosphatase (ALP) level as a diagnostic marker
The need for prompt assessment of natural substrates like pyridoxal phosphate and phosphoethanolamine
The correct application of the new diagnostic criteria

Importantly, this patient case emphasises the need for a comprehensive multidisciplinary team for the timely diagnosis and treatment of HPP, and the benefits such collaborations bring to the management of the disease.

Misconception addressed within this educational session:

Szabo SM, et al. Orphanet J Rare Dis. 2019;14(1):85.

Consultant Paediatric Endocrinology and Metabolic Bone Diseases
Royal Manchester Children’s Hospital, Manchester, UK

Prof. Raja Padidela has a strong interest in research and is managing clinical trials in new medications for bone and mineral disorders. He is recognised nationally and internationally for his teaching and training in this speciality. He has authored numerous peer-reviewed journal articles and book chapters. He advises nationally and internationally on the management of children with metabolic bone and mineral disorders.

He completed his training in Paediatric Endocrinology at the Royal London and Great Ormond Street Hospitals, London, UK. Prof. Padidela completed his MD (Research) training in genetics of childhood growth at the Institute of Child Health, University College London, UK.

VIDEO HPP diagnosis: from a radiological perspective How can you spot the signs of hypophosphatasia (HPP) in radiographic images? Prof. Offiah, a paediatric radiologist from the United Kingdom, presents two case studies that highlight the key radiographic manifestations of HPP in infants.

VIDEO HPP diagnosis: from a dental perspective What is the dentist’s role in the diagnosis of hypophosphatasia (HPP)? This video discusses how dental findings, such as premature tooth loss, can be key factors in the diagnosis of HPP.