Dental issues are among the most difficult for XLH (and other chronic hypophosphatemia) patients to deal with. Not only are the spontaneous abscesses (and other dental abnormalities) painful and expensive to treat, but they’re also the source of a great deal of frustration and trauma related to our inability to prevent them, while still being blamed for them (accused of poor oral hygiene) by dentists who don’t understand that there is no amount of brushing or flossing that can compensate for dental-structure abnormalities.
There are a number of journal articles (which I’ll list below) about the structural abnormalities of our teeth, which can be useful if a dentist is at least willing to listen, and is interested in learning more about XLH. What hasn’t been addressed until now is how those dental issues affect our quality of life. But now there are two such articles, one in the UK and one in France. I’m going to focuse on the one in France today: “Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration” in Endocrine Connections (January 2022).
This article provides a good overview (and good citations to more articles) of the science: “[R]ecurrent dental abscesses or facial cellulitis of dental origin on a tooth of normal external appearance occurs. … In adults, there [may be] numerous devitalized teeth (especially those of the mandibular incisor and canine teeth, moderate to severe periodontitis, or several asymptomatic periapical lesions …). The dental panoramic also shows large pulp chambers, devitalized teeth, generalized alveolysis, and/or bone lacunae extending to several teeth.”
The focus of the discussion, however, is on the necessity for “high coordination of multidisciplinary patient care to optimize quality of life and reduce disease burden.” It also acknowledges the challenge we patients have experienced with “finding professionals with sufficient knowledge of the disease,” which diminishes our quality of life.
It’s nice to see confirmation of our experiences in the article, so we know we’re not alone or imagining the challenges. I found particular validation in this statement about the consequences of dentists not understanding the oral health effects of XLH: “[P]rofessionals who are not trained in the phenotypic specificity of this disease may steer patients in therapeutic directions with poor outcomes. Furthermore, they can create additional barriers to a good quality of life due to insufficient access to information, treatment, and support, as well as the high stigma that the disease carries.”
This article may also come in handy if the federal legislation known as Ensuring Lasting Smiles Act ever becomes law (requiring regular health insurance cover dental work that’s due to an underlying disorder). Assuming that law is enacted, I fully expect insurers to argue over whether dental work is due to the XLH or some other cause. But as this article explains, “Many rare diseases have severe direct or indirect consequences on tooth formation (number, shape, structure anomalies) or craniofacial bone. However, in the case of XLH, these abnormalities are not secondary effects of the condition but a direct consequence of XLH on the tooth structure.”
It’s definitely worth reading the whole article, and all the examples of patients’ statements about their challenges (not just related to dental health), but I should warn you it’s also an emotional read, bringing back what I suspect are bad memories for a lot of us. It made me angry, thinking about how this poor treatment is STILL happening, when so much more is known about the disorder than when I was younger, and the information is widely available to any clinician who is willing to look for it.
Just a few of the comments that really resonated with me: “The patients described their weariness with having to repeat the history of their disease and its oral particularities to all the dentists they had seen. They describe that dentists do not see the clinical link with the disease. … The patients reproached the practitioners for not candidly saying when they did not know and for misdirecting them.”
I can understand that XLH is rare, and clinicians can’t know all about every single one of the estimated seven thousand-plus rare diseases, but I will never, ever understand how a clinician justifies treating a rare-disorder patient while not being willing to admit they know nothing about it and, at the same time, being unwilling to do even the most basic research on the disorder. They no longer have the excuse that existed in the past, that there are no articles about XLH teeth. A quick search of pubmed (database of medical journal articles) on XLH and teeth brings up forty-four articles!
So, make sure you’re ready to deal with the reminders of bad experiences and then go read the article. Or bookmark/print it for future reference. And if you’re up to it, also check out the similar work done in the UK, “Oral health-related quality of life in X-linked hypophosphataemia and osteogenesis imperfecta” Journal of Oral Health Rehabilitation 2021)
Then if you want articles that get into more of the biochemistry of XLH teeth, here are the links I promised (but note that they were written prior to the commercial availability of burosumab, and I’m not aware of any research relating to burosumab’s effect on dental health):
- “Impaired mineral quality in dentin in X-linked hypophosphatemia” Connective Tissue Research 2018
- “Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures” Journal of Dental Research 2018
- “Dental management of patients with X-linked hypophosphatemia” Restorative Dentistry and Endodontics 2017
- “Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia” Journal of Dental Research 2017 (but note that the Vitamin D referenced is active vitamin D, by prescription, and again, this work was done before widespread use of burosumab, and further research is needed to determine whether burosumab treatment has the same or better benefits on oral health as the old phos/calcitriol regimen)
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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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