Asymptomatic patients and chameleons, clinical challenges of the future
As I mentioned in a previous article, the term pleiotropy refers to how one gene is responsible for multiple phenotypic effects. This becomes more relevant when a mutation occurs in that gene and these different phenotypes are expressed in apparently unrelated systems and at different stages of life. But, how to fit this vision in clinical development without falling into the temptation of understanding that every sign is related to a significant mutation? Perhaps, by establishing ties with those medical disciplines that can help us fit all the pieces together in the right measure. Genetics will give us one part of the solution and epigenetics the other.
There are certain immuno-digestive pathologies that may not present obvious or severe digestive or immunological clinical manifestations, but mild and sporadic at an early age, so they will not be referred to their digestive specialist. They are silent pathologies in asymptomatic patients. However, these pathologies can share a genetic basis with certain oral manifestations that can appear at an early age and that, therefore, can serve as alarm signals.
On other occasions, they do present clinical manifestations, but they are mild and change over time. Manifestations that, as cited by one author13, are presented as chameleon-like clinical characteristics because they appear with a changing pattern over time depending on the circumstances to which it is subjected, with a genetic basis that justifies it (family history is key in cases of hereditary mutations although they can present as de novo mutations) and with expression in different stages of life mediated through interrelated pathogenic mechanisms in different areas: immunological, digestive, parathyroid, some types of cancer…
These asymptomatic or chameleonic clinical patterns that come to our dental clinic correspond to those patients of any age with a series of mild, sporadic, irregular oral clinical manifestations over time, apparently unconnected with each other and not due to a single obvious cause. They are patients who learn to live with them, although they may present periods of exacerbation and, on occasion, come to the clinic with one or more manifestations in the form of signs and symptoms such as: enamel defects, number and shape of teeth, lesions of recurrence in the oral mucosa, oral trush, glossitis, ulcers, burning sensation, lichen, angular cheilitis, pyostomatitis vegetans, xerostomia, halitosis, referred pain of myofascial origin in the ear area, eye fundus, dental areas, loss of dental structure due to erosion-reflux, TMJ dysfunction, tinnitus…
Celiac disease can be one of these silent immunodigestive pathologies, but there are other immunodigestive pathologies that can also go unnoticed or mislead us in their presentation, such as ulcerative colitis, Crohn’s disease, Peutz Jeghers…
Since these pathologies are the most common and referred to in the scientific literature, genetic studies allow us to access diagnoses of pathologies that are more difficult to identify in clinical practice. That is why, currently, in the face of these difficulties, in our center we have incorporated genetic studies as a diagnostic tool. The results obtained so far show its effectiveness in convincingly identifying less common pathologies, such as those associated with the following mutations: IKBKG (associated with immunodeficiency, Incontinentia Pigmenti and ectodermal dysplasia), GFI1 (associated with various types of neutropenia), GATA3 (associated to hearing, renal and dental alterations),…
Our job, therefore, will be to identify these alarm signals within the set of clinical history and family history and refer them to the corresponding specialist.