I swear, sometimes it feels like clinicians are looking for reasons to avoid prescribing burosumab. Take a look at this article, which suggests that orthotic bracing, rather than the more invasive orthopedic surgery, might be useful for correcting bowed legs: “Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives.” I do think that information is potentially useful for patients who can’t access burosumab, but do they really have to make the argument that the old treatment (phos/calcitriol) plus bracing is superior to burosumab, which I just don’t believe? They correctly note that the terrible old treatment can cure the rickets (soft ends of bones) without improving the bowing enough to avoid surgery, but then they claim there’s inadequate evidence that burosumab treatment does a better job of fixing the bowing without surgery. We have plenty of anecdotal evidence that, started early, kids on burosumab have nice, straight, STRONG legs with fewer (or faster-healing) fractures. I’ve seen it, and you probably have too!
So, yes, bracing may be a useful alternative to surgery for patients on the terrible old treatment when it fails to improve the bowing, but 1) it doesn’t solve the underlying problem of soft/poorly-mineralized bones, so the improvement may be temporary, and we won’t know until we can study what happens to the patient’s bones in twenty years, to see if the bowing returns, along with typical XLH enthesopathy and fractures, before I declare the bracing to be a success; and 2) it doesn’t properly acknowledge that NEITHER bracing nor surgery might have been needed–and the patient’s bones would have been stronger, with less pain and fatigue–if they’d just treated her with burosumab!
A nice contrast to that article is one that confirms the benefits of burosumab: “Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.” This article, like the one above, triggers my frustration with the persistent use of “form of rickets” to describe XLH (even when one of the patients was first diagnosed at age forty and they acknowledge a variety of symptoms that go beyond rickets to affect the whole-body/whole-life!), but I’ll forgive the authors this time, since the substance of the article is much better.
The “learning points” in this article are exactly the message that patients want clinicians to understand:
- Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms.
- Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients’ quality of life and adherence to treatment.
- Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue.
- There were no significant side effects associated with burosumab therapy.
This article also has one of the strongest statements I’ve seen to date about the worthlessness of the old treatment (phos/calcitriol): “All of the patients had been treated with conventional therapy of daily oral phosphate supplements and active vitamin D analogs; however, they have reported unpleasant side effects such as nausea, diarrhea, and abdominal pain, and reported no improvement in rickets symptoms or even worsening of bone abnormalities.” (Emphasis added.) In contrast, patients who eventually switched to burosumab “showed marked improvements in the biochemical markers of rickets, with increased serum phosphate levels, decreased serum ALP levels, improved TmP/GFR ratio, and improved PTH levels. Patients reported less pain, muscle weakness, and fatigue and led more physically active lives.”
Seriously, how much more evidence do clinicians need toi acknowledge the marked superiority of burosumab over the old treatment? Why is any clinician rationalizing the decision to not prescribe burosumab? I understand it’s expensive, but that shouldn’t be a factor in the clinician’s decision-making. They should be prescribing the BEST treatment, not the “better than nothing, maybe” treatment, and then looking for add-ons like bracing that still won’t be the best treatment for their patients. The decision to not prescribe burosumab is harmful to patients, although the clinicians who make this choice may never realize it. They’ll never have to see for themselves the dire consequences that their patients will experience in twenty, forty or sixty years, since the patients will have long since left their care, graduating from pediatric treatment. It’s really too bad we don’t have a crystal ball that would force them to see how their patients’ future lives are filled with pain and suffering that might have been prevented if they’d just prescribed the burosumab, the cost be damned.
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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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