Not all Primary Care Providers (PCPs) have the time or inclination to educate themselves on the rare diseases of their patients, but for those who are inclined, or who might ask, “What are the main things I should know about your XLH to better manage your overall care,” there is no resource that I’m aware of, which 1) is basic enough for quick study, 2) is patient-focused, and 3) covers the big picture, rather than the nitty-gritty details of diagnosis and treatment, which are more relevant to the treating endocrinologist.
As a starting point to fill in this gap, I’ll be doing a series on the basics of XLH, sort of like the ABC’s of XLH, but for an audience of PCPs (or anyone else who needs to understand the big picture). I hope to hear from you with any feedback on things I got wrong or inadvertently left out, so that at the end of the year, I can pull the series together, as amended based on feedback, into a white paper that you can download and give to your PCP.
The discussions (and the white paper) will include links to longer articles for anyone who does want to get into the nitty-gritty. I’m collecting the main ones here, for easy access. Feel free to let me know if there’s one you think I should add!
At present, the plan is to rely primarily on the following resources, all of which are open access (critical for getting information to a non-specialist who may not have access to the more specialized journals). Few of the articles have any direct patient-voice input, so I’ll be adding that whenever I have sources (e.g., the Voice of the Patient report from the Symposium on Hypophosphatemia), and there will likely be a few symptom-specific resources (dental, hearing, orthopedics, physical therapy) along the way.
First is a group of articles written by and about the “XLH Matters” gathering of XLH experts.
- Overview of the program: https://link.springer.com/article/10.1186/s13023-024-03387-4
- 2022 meeting: https://link.springer.com/article/10.1186/s13023-023-02883-3
- 2024 meeting: https://link.springer.com/article/10.1186/s13023-025-03930-x
Second is a pair of articles on standard of care across all age groups, one primarily by experts in North America, and the other in Europe:
- North America: https://pubmed.ncbi.nlm.nih.gov/40243526/
- Europe: Europe: https://pubmed.ncbi.nlm.nih.gov/39814982/
And finally, there’s an article on standard of care specifically in the pediatric setting: https://academic.oup.com/jcem/article/110/7/2055/8019634?login=false
Subject to change as I go along, the basic outline for the series is:
- Pediatrics: diagnosis & genetics
- Pediatrics: initial symptoms (whole body & mind)
- Pediatrics: metabolic treatment
- Pediatrics: other treatments
- Adults: progressive symptoms (whole body & mind)
- Adults: genetics (family planning)
- Adults: metabolic treatment
- Adults: pain management
- Adults: other treatments
- Adults: aging and disability
Let me know if there’s a topic I’ve missed (although keep in mind that I’m including things like craniosynostosis and Chiari in the pediatric initial symptoms, and dental/hearing issues in the general symptoms topics).
Join me next month for the first substantive entry, on pediatric diagnosis (and the genetics behind it).
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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