Introduction to HPP and the HPP diagnostic criteria

This session provides a concise overview of hypophosphatasia (HPP), an inherited, metabolic, systemic, rare disease that affects people of all ages with a broad spectrum of clinical manifestations, high disease burden and substantial negative impact on quality of life.^1,2 Dr Khan, a professor of medicine and endocrinologist from Canada, covers the genetic basis of HPP, its multisystem manifestations and key diagnostic clues. She emphasises the diverse clinical presentations of HPP, where identification requires appropriate diagnostic tools, including assessing alkaline phosphatase (ALP) levels and other biochemical markers, to facilitate accurate and timely diagnosis.¹ Importantly, Dr Khan highlights the need to differentiate HPP from other metabolic disorders, which often share common symptoms with HPP.¹

Dr Khan presented the diagnostic criteria for HPP in adults and children with persistently low ALP, which were prepared by the HPP International Working Group.

Misconceptions addressed within this educational session:

Khan AA, et al. Osteoporosis Int. 2024;35:431–438.

Rush ET, et al. Orphanet J Rare Dis. 2019;14:201.

Högler W, et al. BMC Musculoskelet Disord. 2019;20:80.

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

Rush E, et al. Osteoporosis Int. 2024;35:1–10.

Clinical Professor of Medicine, Divisions of Endocrinology and Metabolism and Geriatrics at McMaster University, Hamilton, Canada
Director of the Calcium Disorders Clinic at McMaster University Medical Centre, Hamilton, Canada

Dr Aliya Khan is a Professor of Clinical Medicine in the Division of Endocrinology and Geriatrics, Director of the Calcium Disorders Clinic, and Director of the Fellowship in Metabolic Bone Disease at McMaster University, Canada. She graduated from the University of Ottawa Medical School, Canada, with honours and completed postgraduate training at the University of Toronto, Canada. She has published over 200 scientific papers and numerous chapters and books on osteoporosis and parathyroid disease. She has received numerous national and international awards, including the Queen’s Diamond Jubilee Medal for excellence, International Hypoparathyroidism Award, International Osteoporosis Foundation Award for publishing excellence and has been recognised by Osteoporosis Canada for outstanding contributions to research and education. She was recognised as being in the top 0.1% of the world’s experts in hyperparathyroidism by Expertscape.

Dr Khan recently co-chaired the development of new diagnostic criteria for HPP. She has also led the development of global guidelines for parathyroid disease, osteonecrosis of the jaw, as well as X-linked hypophosphataemia, in addition to the Canadian guidelines for osteoporosis.

VIDEO HPP diagnosis: from patients’ perspectives As clinicians focus on clinical data/parameters, it is important to consider the realities of living with hypophosphatasia (HPP) – from the patient’s perspective. In this video, members of a family based in North Wales, United Kingdom, share the stories of individuals from three generations as they go through their diagnoses of HPP.