An overview of the history and features of periodontal EDS

Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

As one of the Genetic Counsellors for the National EDS Diagnostic Service in Sheffield, my role is to provide support and genetic advice to families affected by the rare types of EDS.

For the very rare types of EDS, we collaborate with colleagues internationally to share information and advice to ensure we are all providing the best care. This includes periodontal EDS (pEDS) where there is severe gum disease and early tooth loss, with many also having fragile skin and some having fragile blood vessels. Through international research, the genetic causes involved were identified in 2016, enabling us to genetically confirm the diagnosis in families and build up a stronger understanding of how pEDS affects people.

This information has revealed that pEDS is more common than originally thought. However, many have still never heard of this type of EDS. So what is it and what advice do we give to individuals diagnosed with the condition?

Periodontal EDS; one of the rarer EDS types

As most of you reading this will know, EDS is a collective group of heritable conditions, which affect the connective tissues in the body. Thirteen different types of EDS have been described in the new 2017 classification, each having unique features.

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.

What do we currently know about pEDS?

Periodontitis and receding gums is a defining feature

The significant characteristic of pEDS, compared to the other EDS types, is the 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.

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.

Recommendations for individuals diagnosed with pEDS

We recommend that anyone diagnosed with pEDS is referred to their nearest Genetics Centre or to either the Sheffield or London EDS Diagnostic Service. We can arrange appropriate screening, speak to other healthcare providers about your condition and liaise with dentists.

There is currently no curative treatment for pEDS. We highlight the importance of having excellent dental hygiene. Seeing a hygienist every three months, as well as learning good brushing techniques, is key to preventing or delaying the start of periodontitis. For children under 10, it is recommended that their brushing is supervised and using dental disclosure tablets that colour unbrushed teeth can help to teach optimum brushing skills. Further to this, we advise that anyone diagnosed with pEDS is referred to their nearest dental hospital for discussion of prevention strategies and any future dental treatments.

In view of the possible risk of complications with the blood vessels, we recommend consideration of MRA (magnetic resonance angiogram) scans for all pEDS patients.

EDS UK is a good resource for anyone with pEDS. In addition to its dedicated EDS helpline and the opportunity to meet others, we recently updated their website to include information on pEDS, which you can share with both health professionals and family members to help you explain the condition. The role of a genetic counsellor is to provide the best support for our patients. As genetic counsellors in the EDS Service we are always willing to talk through any questions or concerns, as well as provide psychological and practical support when coming to terms with a new diagnosis of one of the rare types of EDS.

Think you may have pEDS?

If you suspect that you or a relative may have pEDS, it is likely that you are already seeing your dentist on a regular basis and we would recommend discussing it further with them. In order to confirm genetically that you have pEDS, you can ask your GP or dentist/ periodontist for a referral to your local genetics service. They can test you for variants in the genes: C1R and C1S if they feel that this is clinically indicated.

 The specialist clinics run by the EDS Diagnostic Service are available to anyone with a confirmed diagnosis of pEDS via a clinical referral, or individuals suspected by an NHS specialist to have pEDS.