There are so many articles about XLH these days that it’s hard to keep up. I’m not even trying to share all of them, since a lot are repetitive. A few are worth noting though.
First, we’ve got three articles out of Australia! The first includes two authors from the XLH Australia patient advocacy group: “What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey.” The article concludes, “While the most impactful reported symptoms were musculoskeletal features, this survey emphasizes the degree of social and psychological challenges that individuals with XLH face.” A lot of the data is consistent with the results we got during the Symposium on Hypophosphatemia. One question we didn’t ask about then though was the relative impact of physical versus psychosocial burdens of the disorder. I always knew that we had both, but for me, personally, the psychosocial burdens are relatively minor, so I found it interesting to read that slightly more than half of the participants considered their physical symptoms and psychosocial symptoms roughly equally impactful. A good reminder of the variability of our lived experiences!
Respondents were asked if the physical (pain, discomfort, and restricted mobility) or emotional/mental burden of disease were the greatest challenge. Over half (54%, n = 25) reported that the physical and emotional impacts were equally as burdensome, while 33% (n = 15) reported that physical aspects were the greatest challenges, and 11% (n = 5) stated that the emotional and mental burden were the greatest challenge.
The second article out of Australia didn’t offer anything new, but is useful as a confirmation that yes, burosumab works in non-clinical-trial settings (real world): “Clinical experience from 2 centers in Sydney supports trial findings that burosumab is well-tolerated and associated with improved serum phosphate concentrations and self-reported stiffness and physical function.” That’s from “Burosumab in adults with X-linked hypophosphatemia: real-world experience from a retrospective study in Sydney”
The third article is “Patient and carer perceptions and acceptability of current management practices in paediatric X-linked hypophosphatemia treated with burosumab therapy.” Ironically, given that the subject is patient/carer perceptions, there is no patient/carer representation in the list of authors. You can see the lack of patient/carer input (as authors, rather than subjects) in the first line of the abstract that states defines XLH as an excess of FGF23 that “leads to hypophosphatemic rickets, lower limb bowing, and musculoskeletal pain.” In the full article, “rickets” continues to be used without any acknowledgment of the adult symptom of osteomalacia, something that a well-informed patient/carer would have corrected. Admittedly, the focus of the article is on pediatric care, but given the challenges we experience in getting clinicians to understand that XLH is a lifelong disorder (mentioned in the first article above as a significant impediment to care), it’s important for the pediatric clinicians to refrain from language that suggest the bone symptoms are limited to childhood. Nevertheless, the article has some useful information, including confirmation that patients and carers would like to be able to self-inject (or get the injections from a carer at home).
So you can see that XLH is already well represented in 2026 journal articles. I’ll share any others that come along and aren’t simply repetitive of previously published materials.
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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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