There’s a new journal article on Autosomal dominant hypophosphatemia that reports on one patient and collects the literature specific to that form of chronic hypophosphatemia. It’s useful to have the citations to the very limited relevant literature collected in one spot, but the article itself is problematic for the patient community (including both autosomal and x-linked), because the information is presented through a lens that views the disorder as purely a pediatric bone disorder. Anything written about a lifelong disorder like hypophosphatemia should have at least one author who has treated it in adults, but this one doesn’t.
You can read the full article, “Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature,” in the International Journal of Environmental Research and Public Health (August 2021) here.
I can’t speak to the accuracy of the science, but the problem with the article from a patient point of view is that it conflates hypophosphatemia with “rickets,” which is, as I’ve noted before, both wrong and harmful. The title, a case report on “hypophosphatemic rickets,” is the first indication the article will be problematic, and it gets worse from there.
It would be bad enough if the authors limited the bad nomenclature to the autosomal versions, but extend it to XLH too. For mainly random, possibly historical reasons, it’s even more common to include “rickets” in the name of the autosomal versions, both dominant and recessive, than for the x-linked version. We’ve had some luck in getting the medical community to drop the R from XLH, but you’ll note that in this article, when comparing the relevant autosomal version to the x-linked version, the authors add the rickets onto XLH, so the name becomes XLHR.
Whether the condition is autosomal or x-linked, though, it’s wrong to conflate it with rickets. The focus should be on the hypophosphatemia, the underlying condition that affects more than just bones and more than just children. And if they’d included an author (or peer review committee member) who had experience treating adults with chronic hpophosphatemia, their misunderstanding of the disorder might have been corrected.
This conflation of the disorder with rickets occurs throughout the article and leads to other mischaracterizations of the patient experience. Take a look at this statement: “The first manifestations occur around the age of walking,…” They’re talking about the first visible, bone-related manifestations, while the actual first manifestations are invisible and occur at birth, since patients always produce too much FGF23 and as a result can never absorb phosphorus reliably.
Why is it important to acknowledge the invisible symptoms? Because kids who are not walking, whose bones aren’t visibly bowed may still require treatment. We know that getting patients diagnosed and treated at the earliest possible moment leads to better outcomes. If, as the article implies, the condition is exclusively about the visible effect on bones, and the bones aren’t affected until the bowing begins with walking (eight to eighteen months), then there’s no real rush to diagnosis. But we know that bones are growing and failing to mineralize sooner than that (and teeth are forming and patients are in pain), so diagnosis as close to the time of birth is the goal.
Another big concern I have about this article is that it barely acknowledges the existence of adults with autosomal hypophosphatemia. It’s somewhat understandable, given that the one case the authors have experience with went into remission during childhood. But my impression, based on reading other similar articles, is that it has more to do with the fact that the authors are associated with a children’s hospital and specialize in pediatrics and genetics. Specialization leads to clinicians who have blinders when it comes to other areas of expertise, and in this case, that other area isn’t a different disorder but a different age range. They never see what happens to their patients in adulthood, so in a sense, those patients don’t exist in the clinicians’ minds. And since adults don’t exist in their view, then it’s understandable why the article doesn’t mention anything about the very real need for transition to adult treatment and monitoring.
Bottom line: read this article cautiously, not for its substance, but as a lesson in how NOT to write about a lifelong disorder and also for its citations, which collects the major journal articles about the autosomal hypophosphatemias in one convenient location.
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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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