There’s a really interesting new article about the diagnostic journey for XLH patients, in the context of electronic health records (EHR): “The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia.”
A lot of the data analysis in this new article is beyond my expertise, but if I understand it correctly, they took a massive database of diagnostic codes and other medical records, and tried to identify how many patients had XLH, removed some apparent duplicates, and then analyzed the rest.
Some interesting tidbits: They came up with a prevalence closer to 1 in 100,000 births (rather than the more commonly used 1 in 20,000), but that could be due to how many patients never get correctly diagnosed. (One of the patients in their database wasn’t correctly diagnosed until he was 88!) The median (most common) age of diagnosis in the study, at least since the year 2000, was four years old, which is a little older than I’d have expected for the XLH population as a whole, which includes both spontaneous and familial cases. Spontaneous cases are harder to diagnose, but familial ones ought to be diagnosed not much later than twelve months of age, when phosphorus levels settle down and become reliable.
Beyond that, the data seem to reflect ongoing ignorance of the whole-body (and whole-life) nature of XLH. The researchers identified 17 aspects of XLH that are common across all patients and therefore should be mentioned at some point in the EHRs of each patient. There were five such aspects that were not mentioned in ANY of the patients’ records, even though you’d recognize them as being relevant, e.g., arthritis, increased bone mineral density, insufficiency fractures, and periodontal disease. Something we need to remember is that simply digitizing information doesn’t necessarily improve treatment if the person gatekeeping the information doesn’t understand the medical condition they’re documenting.
I do think electronic health records have some potential benefits if properly implemented (and if they’re universally adopted and integrated across all health care providers). Once a patient has a correct diagnosis in the EHRs, it should be easily accessible to new health care providers this way, reducing the miscommunication and lack of communication between providers.
Still, I worry about all the misdiagnoses and other garbage in patients’ records, especially for rare-disorder patients. I’ve read most of my records, and they’re littered with heaps of incorrect information, with no way for me (or even the health care provider) to fix the mistakes. The one good thing about the records being siloed (kept within a single health care organization, either manually or electronically), was that the bad information wouldn’t necessarily get passed on from one health care provider to another, and you could start over fresh (to a degree) by switching primary health care providers. With EHR, bad info is forever.
So, what can we do about that? Not a lot, except to be informed and advocate for ourselves. If you have access to a patient portal for your health care providers, check out the information in them either routinely (every year or so) or after a major incident or change in providers. If the diagnosis code is wrong, you may not be able to delete the wrong one, but you could ask the provider to add the correct one (E83.30 for ICD-10 or GB90.48 for ICD-11). Advocacy may be necessary when you change or add a health care provider. In those situations, if you know there’s relevant incorrect information in your file, you can be prepared to discuss it with the new/additional health care provider.
I’ll be doing that this week when I meet my latest new primary care provider this week — the second in three years! I’ve already got a couple journal articles printed out to bring with me!
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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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