There’s a brilliant new journal article, “Clinical practice recommendations for the diagnosis and management of XLH” available now (with patients representing advocacy groups listed among the authors!), and for today, I just want to share the link and encourage you to read it for yourself (and print it to give to your clinician if they don’t have a great deal of XLH experience).
I’ll have lots more to say about it in coming weeks, dissecting some of the material, but for now, I just want to clarify a few things you might stumble over.
First, just an explanation for why it’s published in a journal focusing on nephrology (kidney science), rather than endocrinology. The authors are all located in Europe (I believe), and are a mix of specialties, but it’s common there for nephrologists to treat XLH, rather than (or in addition to) endocrinologists. Publishing in a nephrology journal is likely to reach more clinicians there than in an endocrinology journal.
Second, the rating system for the recommendations is complicated and a little confusing, and you may feel that the recommendations for a lot of common-sense practices are weaker than they should be. There’s a reason for that, though, so please cut them some slack and don’t discard the advice because of it. They’re scientists, after all, and are subject to peer review, so they need to stick to recommendations that there is verifiable evidence for — facts, rather than opinions — in order to get published and be believed. And unfortunately, there just isn’t any research (yet) to support stronger statements. Until there’s more research, even a weak recommendation is better than none, especially coming from so many recognized experts! You’ll note too that the authors themselves appear frustrated by the lack of data that would allow them to offer stronger recommendations — all the comments about the lack of research and the recommendations for more research are scientist-speak for “we wish we knew more!”
And finally, some of the material is very biochemistry-dense, but don’t let that stop you from reading as much of the article as you can absorb. Breaking it into pieces, or focusing on sub-topics (like pediatric diagnosis/treatment versus adult diagnosis/treatment) and leaving the other sections for another time can make it more manageable. You can skip the sections that make your eyes start to roll back in your head (I do that too when the biochemistry explanations get intense), and still get a lot of information out of it.
I’ll be interested to hear your thoughts on it after you’ve had time to read it. I’d especially like to hear about the pieces that you find insightful or validating or novel. As a tiny precursor to a future commentary, I love the way they made a point to NOT use “conventional treatment” to describe the old phosphate/calcitriol regimen. “We do not use the term ‘conventional treatment’ to refer to oral phosphate and active vitamin D, as most paediatric patients with XLH in Europe are now treated with burosumab.” (Translation into non-science-speak: “Get your head out of the past, clinicians. Phos/calcitriol hasn’t been the standard treatment for the better part of a decade now!”) I think that’s a big step forward in rewiring the medical community’s brains when it comes to chronic hypophosphatemia treatment!
***
Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
If you’d prefer to read this blog as a newsletter, sent straight to your inbox, please sign up here.