HPP diagnosis: from a genetics perspective

What role does genetics play in the diagnosis of hypophosphatasia (HPP)? This video outlines the genetic complexities of HPP, which is caused by an inborn error of metabolism characterised by deficient tissue-nonspecific alkaline phosphatase (ALP) activity.¹ Prof. Dr Chirita-Emandi, a geneticist from Romania, emphasises the importance of a diagnostic approach using genetic testing where possible, and encourages physicians to integrate genetic testing more thoroughly into the diagnostic process for HPP. Genetic tests help us understand whether the inheritance pattern is autosomal recessive or dominant and provide variant classification that is crucial for the accurate diagnosis of HPP and genetic counselling.¹ Variants of uncertain significance present a unique challenge in HPP diagnosis, so Prof. Dr Chirita-Emandi encourages clinicians to utilise available resources for variant reclassification and functional studies when results are not conclusive.

Misconception addressed within this educational session:

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

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

Consultant in Paediatrics and Medical Genetics
Center of Genomic Medicine Timisoara, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania
Regional Center of Medical Genetics, "Louis Turcanu" Clinical Emergency Hospital for Children, Timisoara, Romania

Since 2021, Prof. Dr Adela Chirita-Emandi has been Professor of Genetics at the Center of Genomic Medicine, at “Victor Babes” University of Medicine and Pharmacy, Timișoara, Romania. She is also part of the Center of Genomic Medicine at the same university, where her research focuses on OMICS technologies.

Qualifying as a medical doctor in 2007 and training as a paediatric physician, Prof. Dr Chirita-Emandi then completed a PhD and postdoc in paediatric and medical genetics. Her research career has specialised in childhood obesity and rare genetic disorders, within which she has authored numerous scientific publications in prestigious journals, including The Lancet and Nature.

VIDEO 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.

VIDEO HPP monitoring: from patients’ perspectives As clinicians focus on clinical data/parameters, it is important to consider how life with hypophosphatasia (HPP) goes on – from the patient’s perspective. In this video, Mel and Jenn, mother and daughter of a family based in North Wales, United Kingdom, discuss their experiences in managing HPP within the local healthcare system..