I’ve been thinking a lot lately about just how many medical-journal articles have been published in the last five years about XLH and/or the related chronic hypophosphatemias. Used to be, if someone needed an article about XLH, the only one I ever recommended was “The Clinician’s Guide to XLH.” (It’s still good as a basic overview, but somewhat dated, since it was published before the development of burosumab, and before some of the latest understanding of the whole-life/whole-body/whole-family nature of chronic hypophosphatemia.) The Clinician’s Guide was about the only good resource, other than some highly specialized articles, available at the time.
Now, we have a cornucopia of articles, both general and specialized, so if I’m asked to recommend a basic reading list, it’s hard to narrow down the options so as not to be overwhelming. And there are new articles coming out every month! Here are a few from this year that you might find interesting:
- I always like to see patient-focused research, so I was pleased to see the patient-reported aspect of this new article, as well as the more substantive conclusion, that the new treatment works in ways that matter to TIO patients in our community: “Burosumab improves patient-reported outcomes in adults with TIO.”
- I’ve talked previously about this next article by XLH experts, but I’ll mention it again, because it’s so, so good, and I think it would be useful to share with your clinician if they have the technical medical expertise to treat you, but not a whole lot of hands-on experience with XLH: “Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives.” Instead of reporting on specific data about burosumab treatment, it’s basically a collection of risk/benefit analyses by some of the very top XLH experts who have extensive hands-on experience with XLH patients in a variety of countries.
- This one might be useful for anyone (like me) who experiences OPLL, Ossification of the Posterior Longitudinal Ligament (the ligament that runs the length of the spine and is intended to allow for flexibility, but when calcified instead limits the spine’s range of motion): “Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.” It’s not widely known that OPLL is a relatively common occurrence in the chronic hypophosphatemia community (not just XLH, but the autosomal varieties too; I’m not sure about TIO). Unfortunately, this article is not open access, so I can only read the abstract, but if it’s an issue for you, your clinician might have access to the full article, and if not, the abstract alone should be enough to overcome any skepticism that OPLL is an issue in our community or that it’s at least partially caused by the underlying hypophosphatemia.
- There’s another article on spinal enthesopathy in general (also unfortunately not open access): “Development of spinal enthesopathies in adults with XLH.” Like the previous article, this one is useful for overcoming skepticism that spinal issues are related to the underlying hypophosphatemia. The abstract concludes, “This study confirms the high proportion of [XLH] patients with a progression of spinal enthesopathies.”
- And finally, this article lays out a wish list for work to be carried out by clinicians, researchers, and patient advocates in the rare bone disease community in general. “Improving care pathways for people living with rare bone diseases.” The panel included Dr. Thomas Carpenter, who, in my experience, is keenly aware of the patient experience, to the extent possible for anyone who doesn’t himself have the condition. I believe the XLH Network may also have participated, although there appears to be a typo in the article, referring to it as the “XLR” Network.
There are quite a few other articles published just this year, but the ones above are, I believe, the most useful for the patient community and the clinicians treating them.
Are there any topics you’ve been looking to read more about or to share with your clinician? Or an article that you return to frequently, and that you think every patient or clinician should have a copy of? I’d love to hear from you about both your favorites and the ones that don’t exist yet, but that you wish would be published!
My wish list, of course, includes the results of the XLH and hearing study going on now at the Massachusetts Eye and Ear Infirmary. They’re hoping to complete it in the next year or so, but that will depend on the willingness of patients to participate in the research. Please, if you live within commuting distance of Boston (at present, there aren’t enough funds to pay for longer travel), and are an adult with XLH (with or without hearing loss), please consider reaching out to the principal investigator, ear-surgeon and researcher, Divya Chari to get the details on the study, so you can decide whether to participate. Her email is: Divya_Chari at MEEI.harvard.edu Or if you know anyone else who might qualify and be willing to do the study, please pass along this information so they can contact Dr. Chari, or refer them to me if they need more details before reaching out to the doctor. Remember, you’re not obligated to participate just because you ask for more information! And it’s really not a terribly demanding experience — I was done in just three hours (not including the commute)!
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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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