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Fast Facts: Perio Edition - Hypophosphatasia

Fast Facts

Fast Facts: Perio Edition Episode 69
[Andrew Johnston, RDH]
Welcome back everyone! You are listening to another episode of Fast Facts- Perio Edition brought to you by A Tale of Two Hygienists in partnership with DentistRX. And now, please welcome your host, Katrina Sanders.
[Katrina Sanders, RDH]
Hello, and welcome to Fast Perio Edition. This week we are continuing the conversation around various types of conditions that align with the classification system, Periodontitis as a Manifestation of Systemic Disease. This week we are talking all things Hypophosphatasia. Oh, my goodness. What a mouthful, right? Or at least you'd think so. It's not a mouthful when we consider the individuals who are experiencing this rare genetic disorder. Of note, individuals who experience Hypophosphatasia are oftentimes individuals who experience impaired mineralization or an impaired calcification, particularly of the bones and the teeth. These problems occur because mineralization, we know, is the critical component or process in which our bones in our teeth are able to uptake calcium and phosphorus into the hydroxyapatite. This is really what provides proper hardness and strength for our skeleton and our teeth. Here's the challenge when we experience a lack of mineralization or a hypo mineralization. To the degree that individuals with Hypophosphatasia experience, this is where we start to see softening of the bones. And these individuals are oftentimes very prone to fracture as well as deformities. So a lot of times when you see an individual who is experiencing this rare genetic disorder, they will experience things like short, bowed arms and legs, underdeveloped ribs, or even deformities of the chest.
In severe cases, some pregnancies will actually end in stillbirth, while some affected newborns may survive for several days, but if left untreated, may die from respiratory failure because of weakness of the chest. In advanced cases, individuals who do survive within the first few months of life can even experience challenges later on in infancy, particularly because there are challenges with the skull bones fusing, which can lead to a deformed head or may even increase the pressure of the cerebrospinal fluid that surrounds the brain, which can, of course, cause headaches or even bulging of the eyes in severe cases. Rickets is oftentimes a general term associated with different types of complications and so this is where sometimes we can even see a misdiagnosis in many cases. We know that the adult form of Rickets is called osteomalacia. So again, we can even see this misdiagnosed as osteomalacia later in life where individuals again are experiencing softening of the bones as adults. So typically the profile of an individual, if this has not been diagnosed either at birth or early on in infancy, will oftentimes be somebody who is very prone to fracture with the deformities of the skeletal structures.
From an oral component, the most frequent dental signs that we do see is seen in premature loss of primary teeth. So these are going to be kiddos where they are losing those primary teeth, and we're not seeing that succedaneous tooth erupting as a critical component of that eruption sequence. We can also see a decrease in the height of the alveolar bone that's seen in about 44% of individuals who experience Hypophosphatasia and keep in mind these are individuals who are relatively young. In fact, the study that will be cited in the show notes is a study that discusses individuals 17 years of age or younger. So in about half of these individuals they have already begun to experience bone loss. And of course in association we do see various types of Malocclusions associated which one could surmise any time that there are bony developmental challenges.
There is treatment readily available. There is a medication that is oftentimes delivered via injection. However, one of the challenges associated with utilizing this type of an injection is that you can oftentimes see increase in calcium or calcium deposits as noted in the corners of the eyes on your patients. So you may actually see this in the EOI or they may report kidney stones as calcium deposits in the kidneys are oftentimes another side effect associated with these types of medical advances.
Thank you for joining us this week. Join us next time as we continue the conversation around various types of conditions associated with periodontitis as a manifestation of systemic disease.
This has been another episode of Fast Facts - Perio Edition with Katrina Sanders, RDH. Please feel free to reach me on Instagram @thedentalwinegenist or on my website Cheers.
[Andrew Johnston, RDH]
Thank you for listening to another episode of Fast Facts - Perio Edition, brought to you in part by DentistRX makers of the InteliSonic line of power brushes. Find out more by visiting their website at We'll see you next week for another Fast Fact!
Resource: ​​
Plagmann HC, Kocher T, Kuhrau N, Caliebe A. Periodontal manifestation of hypophosphatasia. A family case report. J Clin Periodontol. 1994 Nov;21(10):710-6. doi: 10.1111/j.1600-051x.1994.tb00791.x. PMID: 7852617.

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