The XLH community is an enticing one for both legit research and scammers. Researchers have been fascinated by FGF23 ever since it was discovered by, among others, Dr. Michael Econs, a prominent XLH researcher (and I’m told that researchers into another rare bone disorder, fibrous dysplasia, were simultaneously involved in that discovery). Excessive FGF23 production occurs in other, more common, medical conditions, like kidney disease, so FGF23 is often studied in those other contexts, with results that may or may not be relevant to the XLH community.
For scammers, the XLH community (mainly XLH and TIO, not the autosomal versions) is an attractive target since, unlike about 95% of rare disorders, XLH and TIO have not just a treatment, but a highly effective one. And, to make the community even more attractive to scammers, the treatment is extremely expensive. Anywhere there’s money, there are scammers. The most frequent scam I see is market reports that are clearly nothing more than boilerplate filled in using AI and sold for ridiculous prices. One of the clues that they’re not truly scientific or even serious financial research is that the press releases aren’t in medical or financial publications/sites, but are in places that apparently publish anything they’re sent, with no vetting.
In a grayer area, neither reliable nor a scam, you’ll find well-meaning sites purporting to be patient-focused, which are reporting on XLH (and other rare disorders), but promulgating outdated or downright incorrect information, and you should beware of them.
The keys to recognizing whether sites are acting in your best interest are 1. whether they’re for-profit (URL ends in .com) or nonprofit (ends in .org or .gov or something similar), and 2. whether they have a qualified expert in hypophosphatemia (more than just any old MD or PhD — an actual bone-metabolism-focused endocrinologist or researcher) writing or reviewing the articles. Sites like the XLH Network’s or the XLH Alliance’s are generally reliable, since they’re BOTH nonprofit AND have scientific advisory boards with XLH expertise.
It’s possible to have one indication of reliability and not the other, and still be a good resource. For example, Ultragenyx’s website, XLHLink, is a .com, but it has XLH experts reviewing the information), so the information is reliable, as long as you keep in mind that they have a profit motive. On the other hand, a site can be a nonprofit (end in .org) and still not be a reliable source if it has no XLH experts writing/reviewing/moderating the content, e.g., social media groups/pages/channels that are run by individuals with no scientific advisory boards, or websites that may have a charitable purpose but no actual expertise with XLH. It also depends on what the site is purporting to offer — medical advice or just personal experience. Sites by individual patients without advisory boards (like me) may be reliable when it comes to describing the patient experience, but not when it comes to offering medical advice (beyond “seek the advice — or second opinion — of a clinician with XLH experience,” which is always good advice).
So what do you do if you want to be sure the information you’re getting is reliable? Normally, I’d say to start with the patient advocacy groups’ websites, but at the moment, the XLH ones don’t have a lot of material about the science of XLH. That should change soon, since I believe both the XLH Network and the XLH Alliance are working on collections of fact sheets that will address the various aspects of XLH, and I look forward to seeing them and sharing them with you.
My second choice for a reliable site would be the Ultragenyx educational one, XLHLink (again, with the caveat that they have a for-profit motive that you need to consider). The “familial hypophosphatemia page” in NORD’s database is good (although it perpetuates the old “rickets” nomenclature in places, so ignore that bit).
At present, I do NOT recommend the XLH page at the (usually reliable) NIH website, or the XLH information at either Medscape or MedlinePlus, all of which need massive revision to catch up to the current science, and in the meantime, it can be difficult to weed out the old/outdated information unless you already know more about XLH than the articles can teach you. I don’t have access to UpToDate, so I can’t comment on the information there. Wikipedia is generally not considered particularly reliable for scientific matters, although, depending on the topic, it can be quite good. Unfortunately, the information on XLH is disorganized and out of date, so at least as of today, I can’t recommend it.
If you’ve exhausted the resources at reliable websites, you can turn to the journal articles that go more in-depth into medical issues. I’ll share more about how to access journal articles, and how to assess their reliability, in the future. For now, if you’re getting your XLH information online, make sure the source is both reliable and current.
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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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