Endocrinologist Prof. Maria Luisa Brandi and paediatric endocrinologist Prof. Outi Mäkitie summarise the key highlights from an ECE 2024 Hub session where they discussed the challenges of differential diagnosis of chronic hypophosphatemia and the associated burden of the disease through the presentation of two patient cases.

 

The medical experts provide key insights on the following topics: 

  • Hypophosphatemia and its different origins  
  • The range of factors and conditions to consider 
  • FGF-23 mediated and non-FGF mediated conditions, including XLH and TIO 

 

Watch the video and download the accompanying slides.

 

Clinical takeaways

  • Phosphate homeostasis is tightly regulated. FGF23 plays a key role in the mechanisms involved in disorders linked to phosphate wasting 
  • Hypophosphatemia can have genetic or physiological causes. Genetic causes continue throughout the life of the patient, and transition of care from childhood to adulthood is crucial 
  • Skeletal deformities in childhood and sudden onset of bone abnormalities and fractures without a history of trauma in a previously healthy adult should prompt suspicion of rare bone disorders, such as XLH and TIO 
  • Several guidelines on the management of chronic hypophosphatemia exist (XLH and TIO). Updates are expected to be published soon 

Educational objectives

  • Improve awareness of the different origins of hypophosphatemia (dietary, soft tissue and renal)
  • Highlight the FGF23-mediated and non-FGF23-mediated conditions driving renal phosphate wasting (including XLH  and TIO)
  • Understand the full extent of the associated burden of disease

Prof. Dr. Maria Luisa Brandi is a Professor of Endocrinology at the Vita-Salute University at the San Raffaele, Milan, Italy. She is President of the FIRMO Foundation, a non-profit research organization fully devoted to skeletal health.

 

Her research and fellowship has received several awards and honors, such as Roussel Italia Award, 1988; The European Foundation Award, 1989; Schering Award, Italian Endocrine Society, 1990; The Sandoz Foundation for Gerontological Research Award, 1991; Helena Rubinstein Award “Women in Science”, 1998; Italian Endocrine Society Senior Award, 2003; AILA Award, 2004, Pierre Delmas IOF/ESCEO Prize 2013.

 

Her research includes Genetics and Clinics of Osteoporosis; Pathogenesis of Parathyroid Disorders; Genetics of Paget’s Disease of Bone; Bone Cell Biology; Epidemiology of Osteoporosis; Bone Inherited Disorders. She is serving as an editorial member of several reputed journals like Clinical Cases in Bone and Mineral Metabolism, Journal of Bone and Mineral Research, Medicine, etc. She has authored over 500 papers in peerly reviewed journals and 200 chapters and books. She is a member of American Association of Clinical Endocrinologists; Endocrine Society; International Bone and Mineral Society; Italian Society of Endocrinology; Italian Society of Internal Medicine; International Multiple Endocrine Neoplasia Committee.

Prof. Outi Mäkitie received her MD and PhD degrees at the University of Helsinki, Finland. After specialty training in Pediatrics and Pediatric endocrinology in Finland, she had a three-year clinical and research fellowship at the Hospital for Sick Children, Toronto, Canada, focusing on rare skeletal disorders.

 

Prof. Mäkitie has been Professor of Pediatric Endocrinology at the University of Helsinki since 2015. She has extensive clinical experience on diagnostics and management of metabolic bone diseases in children. During the past 10 years her research has focused on clinical and translational aspects of various genetic and acquired skeletal disorders and disorders of mineral homeostasis. She has published more than 380 scientific papers in these research areas. Prof. Mäkitie currently manages active research groups in Helsinki, Finland and in Stockholm, Sweden.

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This educational programme is supported by an Independent Educational Grant from Kyowa Kirin.
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