HPP diagnosis: from a neurological perspective

What is the significance of neurological manifestations in the diagnosis and management of hypophosphatasia (HPP)? Dr Lampe, a paediatric neurologist from Germany, highlights how neurological symptoms in children and adults contribute to the overall clinical picture of HPP diagnosis. The most common neurological manifestations in children are: seizures, hypotonia and motor development delay; and in adults: fatigue, headaches and sleep disturbances.^1,2 This diversity in symptoms demonstrates the importance of a multidisciplinary approach, including neurological and psychiatric assessments, for comprehensive patient care. Dr Lampe stresses that, although neurological symptoms are not part of the primary diagnostic criteria for HPP,¹ symptoms such as delayed motor milestones often precede skeletal involvement in children, making their early recognition crucial for timely diagnosis.

Misconception addressed within this educational session:

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

Colazo JM, et al. Osteoporos Int. 2019;30(2):469–480.

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

Director
Center for Rare Diseases Giessen (ZSEGI), Department of Paediatric Neurology, Muscular Diseases and Social Paediatrics, University Hospital Gießen, Germany

Dr Christina Lampe is Director of the Center for Rare Diseases Giessen (ZSEGI), in the Department of Paediatric Neurology, Muscular Diseases and Social Paediatrics, University Hospital Gießen, Germany.

Dr Lampe studied medicine at the Humboldt-University of Berlin (Charité), Germany. She became a consultant in surgery in 2007, first working in a private practice and then at the Villa Metabolica at the Department of Paediatric and Adolescent Medicine, University Medical Centre, Johannes Gutenberg-University, Mainz, Germany.

In 2014, Dr Lampe set up the Centre for Rare Diseases at the Dr Horst Schmidt Kliniken in Wiesbaden, Germany, and a few years later in 2018, founded ZSEGI.

VIDEO 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.

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.