Seems like a good day to go on a long rant. But first, an update on Medicare and telehealth—the deadline passed without an extension, so if you, like me, are on Medicare and have a telehealth appointment with your specialist, no, you don’t. At least, I assume they’ll all be cancelled and rescheduled (perhaps with the option of making it in-person at the original time/date). My appointment is this coming Tuesday, and I have no idea whether it’s happening or not. (I support the shutdown for the longterm benefits to healthcare access, but it’s annoying in so many ways in the short term.) I’m waiting until Monday before I call to find out what’s going on, to give them a chance to figure it out. I suspect the health care providers are as confused as I am, and probably overwhelmed by the chaos this is going to cause, especially for specialists (rather than primary care providers, who more often have reasons to need to see the patient in person).
Okay, now for the rant. You’ve all heard me say this before, but XLH is NOT a “form of rickets.” You’re tired of hearing it, I suspect, but probably not as tired as I am of saying it. And yet, the medical community clings to the phrase that is both inaccurate (unscientific!) and harmful. Fastest way to convince me a clinician/researcher/author shouldn’t be within fifty feet of an XLH patient (without a whole lotta’ mea culpa and education first) is to call XLH a form of rickets.
And yet.
Latest blood-pressure-raising article: “Management of rickets: the new horizons for the pediatrician” in the Journal of Health, Population and Nutrition. (Hey, heads up, JHPN, your peer review panel 1. should have included a patient who could have saved you from looking clueless, and 2. apparently has no one who is qualified to comment on the XLH section of the article.)
I was initially prepared to give them a pass on the title, since they seemed to be focused primarily on a nutritional cause for rickets (see the journal’s title, with its emphasis on nutrition, which is largely irrelevant to XLH symptoms/treatment). And if the article had been limited to the nutritional cause of rickets, which I don’t know much about, I’d have simply marked the article as irrelevant and moved on. But no, the authors had to go and implicitly claim expertise in a condition that is NOT nutritional, and that they have no apparent expertise with. All of the authors specialize in pediatric nephrology, not endocrinology or adult nephrology. (Note that nephrology rather than endocrinology is not a red flag—in many parts of the world, nephrology is, in fact, the specialty that treats XLH, but the red flag is their having only the expertise in pediatric issues, rather than the entirety of the disorder. A pediatric nephrologist with XLH experience would, in most cases, not have experience treating adults.)
I do NOT give the article a pass based on the fact that it’s addressed to pediatricians. Even if the focus is on XLH’s pediatric symptoms (which include far more than just rickets), there should be an acknowledgment that patients will need life-long treatment, and therefore the pediatrician should be prepared to assist in the transition from their care to that of an expert adult clinician. Transition is an absolutely critical part of pediatric treatment of XLH (and all pediatric-onset conditions), but there is absolutely nothing that I can find in this article that mentions adult treatment or preparing the patient for the next phase of treatment.
The whole article is based on the premise that there is one disorder (rickets), and then it branches into two different sub-disorders, depending on the cause—nutrition v. genetic variant. This is an outdated and potentially harmful way of looking at both rickets and XLH. Rickets is a symptom, not a disorder. There are two basic disorders here, not one—malnutrition (inadequate vitamin D) and chronic hypophosphatemia. They share a symptom in childhood, but otherwise have very little in common. Nutritionally caused rickets can be treated easily with vitamin D supplements, there are no long-term symptoms beyond the bone growth issues, and the diagnosis no longer applies after the growth plates close. In contrast, XLH is a whole-body/whole-life disorder that requires ongoing treatment after the growth plates close. It cannot be treated with vitamin D supplements, there are many more long-lasting symptoms than the rickets, and it progresses throughout the patient’s lifespan. Viewing the disorder as nothing more than a bone growth issue leads to poor treatment of both children and adults.
And that’s just the beginning of my outrage over this article. I can’t say whether the non-XLH parts of the article are any better, but the sections dealing with XLH are potentially harmful. In addition to the failure to recommend transition to adult treatment, there’s no mention of the harmful side-effects of phosphorus/calcitriol treatment. There’s no acknowledgment of the need for treatment of symptoms other than bone/teeth issues, e.g., physical therapy, occupational therapy, and pain management. There’s no acknowledgment that, wherever burosumab is available, the top experts consider it the default treatment (for both children and adults), rather than the old supplements treatment. (I understand burosumab is not available everywhere, but any discussion of XLH should acknowledge that it is the current standard of care, and that alternatives are just that—lesser alternatives that are barely effective, and even potentially harmful.)
I hate to think that any clinician anywhere would rely on this article with respect to XLH treatment, especially since there are so many better and more comprehensive articles already in print. This one just perpetuates old myths about XLH, when it might have been a useful article if the authors had focused exclusively on the treatment of rickets as a symptom of malnutrition, with a footnote that there are also genetic or acquired disorders that have rickets AS A SYMPTOM, not as a diagnosis, but that they are beyond the scope of the article insofar as they require much different treatment of the underlying condition, rather than of the rickets per se.
When I first read this article, I thought I’d reached peak blood-pressure-raising outrage, and then I read this one: “Deformity Correction in an Adult With Hypophosphatemic Rickets.” Seriously, if you agree with me that calling XLH a form of rickets is bad, this is even worse. This article hearkens back to the 1950s when XLH was called Vitamin D Resistant Rickets. Just look at the dates of the citations listed in the article: nothing more recent that the then-groundbreaking but now out-of-date (due to the development of burosumab) Clinician’s Guide to XLH in 2011, and most are from pre-2000. It’s somewhat perplexing that, despite citing the Clinician’s Guide, they persisted in using the wrong name for the condition. Perhaps if they’d used the correct name to do their research (instead of Vitamin D Resistant Rickets), they’d have found the HUNDREDS (literally) of post-2000 articles about XLH, many of which emphasize the need for stabilizing phosphorus metabolism before orthopedic surgery and during recovery. The authors were literally relying on a 1959 study of osteotomies in rare bone disease patients for their decision to use this technique! Their other citations are from the 1990s, while a quick PubMed search of “XLH osteotomy” produces at least two relevant articles from the last five years (and many more that are tangentially related). I’m sure there’s data out there on osteotomies (and, perhaps more relevantly, repairs to osteotomies) performed on adults with XLH (which the authors never saw), but it’s not my job to do their research, especially when they’re holding themselves out as experts!
By using the wrong name for XLH, they apparently missed the dozens (or more) articles that explicitly noted that patients planning to undergo orthopedic surgery (and recovering from that surgery) should first be treated pharmacologically to improve their bone metabolism. Even the Clinician’s Guide, which the authors cited, mentions this advice. And yet, there is absolutely nothing in this article suggesting that the surgeons referred the patient to an appropriate clinician to investigate and maximize the patient’s bone metabolism. The only mention of ANY pharmacological treatment whatsoever is at the end, where they conclude, “the combination of medical therapy and single-stage surgical correction, involving multiple osteotomies and intramedullary nail fixation, resulted in remarkable clinical improvement.” But they never indicate what that “medical therapy” consisted of! Instead, they talk about how treatment is usually “high-dose vitamin D,” (not true since the 1970s, at least, if they mean regular, inactive vitamin D, and never used alone in high doses if they mean active vitamin D), with or without phosphorus (falsely suggesting the vitamin D is the primary treatment, rather than simply balancing out the phosphorus).
I really hope the medical therapy wasn’t high-dose vitamin D, but even if the patient had access to phos/calcitriol treatment (it seems unlikely that he had access to burosumab), I dread to think about what condition this patient will be in five or ten years from now. The last checkup mentioned in the article was six months post-op, nowhere near long enough to see what long-term effects will be, especially if the patient’s bones weren’t properly mineralized pre-surgery, and therefore won’t be able to hold the rods and nails over time.
This article is one of the most extreme examples I’ve ever seen for why clinicians have to stop referring to XLH as rickets (and, even more so, stop using the VDRR name, even in the “also known as” section). As long as that misnomer remains, patients run the risk of being treated based on the limited understanding (and misunderstanding) of pre-2000 (and pre-1980!) science instead of the state-of-the-art understanding of the condition.
Back when I practiced law, I saw too many lawyers claiming expertise in specialties they didn’t know much about, and it generally didn’t work out well for the clients. I think there’s a tendency for professionals to think that they’re smart and have a solid base of training, so they can figure out a subspecialty, and their egos won’t let them say, “You know, this is really niche stuff, and I’m not the right person to deal with this problem, so let me refer you to someone else.” It’s bad in the legal profession, where the clients’ financial ruin or freedom are at risk, but it’s even worse in the medical profession, where patients’ lives (or at least the quality of their lives) are at stake. And shame on the journals that publish an article without review by at least one expert for each subject of the article. Maybe I’m being naive, but I refuse to believe that any clinician/researcher who has even a passing familiarity with XLH gave a thumbs-up to this article.
Journal editors, listen to patients! Include us on the peer review panels, and save yourself from this level of embarrassment!
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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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