What is a recommended resource to learn about X-linked hypophosphatemia (XLH)?

From the Guidelines

I strongly recommend reading "X-Linked Hypophosphatemia: A Clinical Guide for Patients, Clinicians, and Researchers" published by the International XLH Alliance. This comprehensive resource covers the genetic basis of XLH (mutations in the PHEX gene), clinical manifestations (including rickets, bone deformities, dental issues, and muscle weakness), diagnostic criteria, and current treatment approaches 1. The guide details the standard treatment regimen of oral phosphate supplements (typically divided into 3-5 daily doses) combined with active vitamin D analogs like calcitriol (0.5-1.0 mcg/day in adults) 1. It also covers newer therapies such as burosumab (Crysvita), a monoclonal antibody that targets FGF23, typically administered as subcutaneous injections every 2-4 weeks 1.

Key Points

• The guide explains the pathophysiology of XLH, specifically how elevated FGF23 levels lead to phosphate wasting in the kidneys and impaired vitamin D activation, resulting in hypophosphatemia and the characteristic skeletal abnormalities 1.
• The guide addresses management across different life stages from childhood through adulthood, which is crucial since XLH requires lifelong management 1.
• The resource provides recommendations for diagnosis, treatment, and monitoring of XLH, including the use of burosumab and conventional therapy 1.
• The guide emphasizes the importance of multidisciplinary care and regular monitoring to prevent and manage complications of XLH 1.

Treatment Approaches

• Conventional treatment with oral phosphate supplements and active vitamin D analogs is recommended for symptomatic patients with XLH 1.
• Burosumab is recommended for patients with XLH who are refractory to conventional therapy or have complications related to conventional therapy 1.
• The guide provides detailed information on dosing and administration of burosumab and conventional therapy 1.

From the Research

Resources to Read About X-Linked Hypophosphatemia

To learn more about X-linked hypophosphatemia, the following resources can be considered:

• The study titled "X-Linked Hypophosphatemia: A New Era in Management" published in the Journal of the Endocrine Society 2 provides an overview of the current understanding of XLH, its management, and treatment options.
• The article "Complications of Phosphate and Vitamin D Treatment in X-Linked Hypophosphataemia" published in Advances in therapy 3 discusses the potential complications associated with conventional treatment of XLH.
• The review "Management of X-linked hypophosphatemia in adults" published in Metabolism: clinical and experimental 4 focuses on the management of XLH in adults, including treatment options and potential risks.
• The study "X-linked hypophosphatemia: Management and treatment prospects" published in Joint bone spine 5 provides an overview of the diagnosis, treatment, and management of XLH.
• The article "X-linked hypophosphatemia: The medical expert's challenges and the patient's concerns on their journey with the disease" published in Archives de pediatrie 6 discusses the challenges faced by patients with XLH and the importance of early diagnosis and optimal treatment.

Key Points to Consider

When reading about X-linked hypophosphatemia, consider the following key points:

• XLH is a rare, hereditary, progressive musculoskeletal disease caused by loss of function mutations in the PHEX gene 2.
• Conventional treatment of XLH involves oral phosphate and active vitamin D analogues, but may be associated with complications such as abdominal discomfort, diarrhea, and hyperparathyroidism 3.
• New treatment options, such as burosumab, a fully human monoclonal antibody to FGF23, have been approved for the treatment of XLH 2, 5.
• Early diagnosis and optimal treatment are crucial to control the clinical manifestations of XLH and improve quality of life 5, 6.