What is Periodontal Ehlers-Danlos (pEDS)?
pEDS is one of the most recent EDS types to be described at the genetic level, caused by a disease-causing variant in the genes C1R and C1S. pEDS can have varying features including skin fragility, easy bruising and sometimes joint hypermobility; however what is unique about pEDS is that every individual with this condition has severe inflammation of the gums (periodontitis) often starting in childhood.
What is periodontitis?
Periodontitis is inflammation of the gums and supporting structures. It damages the soft tissue and destroys the bone supporting the teeth which leads to early tooth loss. In the general population, this process is a relatively common condition and is something dentists are looking to prevent through regular six monthly check-ups. In the wider EDS community, we are aware that teeth and gum problems such as periodontitis are seen more frequently than in the general population.
The key difference with pEDS oral problems, compared to the other types of EDS, is the severity of gum disease and recession, which often starts in childhood or in early teenage years. For individuals with pEDS, their periodontitis often leads to loss of their teeth, with a number of our patients having full dentures and tooth implants in their 20s. Also, loss of a structure called “attached gingiva” is seen in patients with pEDS and can be noticed by an experienced clinician and/or dentist simply by looking carefully at the gums.
History of pEDS
Reports of pEDS have been mentioned as early as 1972, when an individual was described as having EDS type symptoms such as slow healing wounds and abnormal looking scars, along with severe periodontitis which caused early loss of his teeth. Shortly following this, several separate reports were published describing other individuals who also had extensive periodontitis, together with varying severities of other symptoms related to EDS. These individuals were then classified as having EDS type VIII, which we now refer to as pEDS.
Scientists began to actively look for a possible genetic cause for pEDS in the early 2000s. At this time, our understanding of the genetics was still relatively limited, however research into three large families with pEDS symptoms suggested that the condition might be linked to a region on chromosome 12. In 2016, an international collaboration with samples from over 100 individuals with suspected pEDS used an advanced genetic technology called exome sequencing, which looks for genetic changes in all of our 20,000 genes. This research found that almost all of the individuals recruited had disease-causing variants in one of two genes: C1R and C1S, both located on chromosome 12. These genes make proteins that play an important role in our innate immune system, which may explain the early onset and severe periodontitis.
Signs & Symptoms of Periodontal EDS
Periodontitis and receding gums is a defining feature
The significant characteristic of pEDS, compared to the other EDS types, is:
- early onset of periodontitis, thinning/ receding gums and inflamed gums (which often appear red, puffy and bleed easily) often in teenage years.
- Fragile skin, with easy bruising leading to discolouration of skin on the lower legs is common
Similar to some other types of EDS, many individuals with pEDS have:
- fragile skin which easily bruises, tears and scars. Many have large areas of skin on the lower legs and shins that are darkened in colour (pre-tibial discolourations).
The extent of skin problems within pEDS varies. Some individuals suffer quite badly with skin fragility, excessive bruising and discolouration of their legs, whilst others are symptom-free.
Other signs of pEDS:
- Short stature
- Atrophic Scars
- Microdontia – underdeveloped teeth
- Gingival overgrowth
- Hyperextensible skin
- Joint hyperflexibility
- Missing teeth
pEDS may be associated with vascular events
Some of the other types of EDS are associated with vascular events, such as widening and rupture of blood vessels. As pEDS is still a relatively new condition, it is currently unclear if individuals with this diagnosis are also at an increased risk of vascular events. On reviewing the literature and our experience in the EDS diagnostic service, over a sixth of all people diagnosed with pEDS have had vascular complications. This suggests that it may be a feature of pEDS and regular vascular screening may be recommended. We advise that all individuals diagnosed with pEDS are reviewed by cardiology.
Individuals with pEDS may have other related health issues
Another feature of pEDS is that some individuals appear to have changes in their brain detectable on MRI scans (so-called white matter changes). This doesn’t seem to cause any medical problems, so the significance is not currently known. Hypermobility and joint pain may also occur.
Diagnosis of Periodontal Ehlers-Danlos Syndrome
Periodontal Ehlers-Danlos syndrome should be suspected in adults with a combination of the following major and minor criteria and family history
- Severe periodontitis of early onset (childhood or adolescence)
- Generalized lack of attached gingiva (Figure 1) (Complete lack of attached gingiva is considered pathognomonic for pEDS
- Pretibial plaques (i.e., hemosiderin deposition) (Figure 2)
- Easy bruising
- Prominent vasculature
- Joint hypermobility, mostly distal joints
- Marfanoid facial features
- Skin hyperextensibility and fragility, abnormal scarring (wide or atrophic)
- Increased rate of infections
Minimal criteria suggestive for pEDS:
- EITHER of the following major criteria:
- Severe and intractable periodontitis of early onset (childhood or adolescence)
- Lack of attached gingiva
- Plus BOTH of the following:
- At least two other major criteria
- One minor criterion
A final diagnosis requires confirmation by molecular testing.
Sources: [1 Ehlers-Danlos Support UK l Overview of the History and Features of Periodontal Ehlers-Danlos Syndrome ] [2 Genetic and Rare Diseases Information Center l Periodontal Ehlers-Danlos Syndrome ] [3 Periodontal Ehlers-Danlos Syndrome l Paper by Ines Kapferer-Seebacher, DMD, Fleur S van Dijk, MD, PhD, and Johannes Zschocke, MD, PhD. ]
Support for Periodontal Ehlers-Danlos Syndrome
EDSNZ are working at compiling a list of resources of services and support you may be interested in. Among these are: