Dental Manifestations of XLH

Many XLH patients know what it's like to have a spontaneous abscess, when a tooth with no cavities or trauma suddenly becomes infected for no apparent reason. We know it's a common symptom of hypophosphatemia, sometimes happening during childhood and in other cases, waiting until early adulthood.

Some dentists and endodontists, however, may be skeptical about the cause of the abscesses, despite published reports confirming it. [One of the earliest case reports was "Hereditary Hypophosphatemia ... Presenting Primary Dental Manifestations" in Oral Surgery, Oral Medicine and Oral Pathology, volume 22, No. 2 (1966).] If your dentist/endodontist would like to learn more about the connection between your hypophosphatemia and your dental health, there are a number of resources you can refer them to.

For a quick overview, available for free download here, there's "A Clinician's Guide to X-linked hypophosphatemia," (by Scientific Advisory Board member Thomas O. Carpenter, MD, et al.) which briefly mentions dental issues. There's also an oral presentation by our Scientific Advisory Board member, Raghbir Kaur, DMD, in the XLH Day video here (beginning at the 20:30 mark).

If your dentist/endodontist is a member of the International & American Associations for Dental Research, with access to Sage Publications, there's a new article entitled "Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations," in the Journal of Dental Research. The abstract is available here. The article covers a number of rare bone diseases, including XLH, and highlights for each one the causative mutations, etiopathology, and treatments.