Clinical Guidance

No genotype-phenotype correlations in pEDs have been identified.

Source: GeneReviews — "Periodontal Ehlers-Danlos Syndrome"

Penetrance

The penetrance in affected individuals identified to date is 100%. However, it is age-related: periodontitis may be absent in young individuals, particularly those with good dental hygiene .

Source: GeneReviews — "Periodontal Ehlers-Danlos Syndrome"

Diagnostic Criteria

Formal clinical diagnostic criteria for periodontal Ehlers-Danlos syndrome (pEDS) were established in the 2017 revised Ehlers-Danlos syndrome nosology .

Suggestive Findings

Periodontal Ehlers-Danlos syndrome (pEDS) should be suspected in adults with a combination of the following major and minor criteria and family history .

Clinical Findings

Major criteria

• Severe periodontitis of early onset (childhood or adolescence)

• Generalized lack of attached gingiva (Complete lack of attached gingiva is considered pathognomonic for pEDS .)

• Pretibial plaques (i.e., hemosiderin deposition)

• Family history of a first-degree relative who meets diagnostic criteria (Absence of a known family history does not preclude the diagnosis.)

Minor criteria

Source: GeneReviews — "Periodontal Ehlers-Danlos Syndrome"

Differential Diagnosis

Periodontal EDS (pEDS) must be distinguished from genetic disorders that include periodontitis and/or other features associated with pEDS and acquired periodontitis. The gingival phenotype as well as age of onset may be useful in differentiating pEDS from these conditions. Note: The current classification of periodontal diseases distinguishes "periodontitis as a complex genetic disorder" (i.e., "acquired periodontitis") from "periodontitis as a manifestation of systemic diseases" – which includes periodontal EDS. Genetic Disorders Table 3. Genetic Disorders Associated with Oral Manifestations in the Differential Diagnosis of Periodontal Ehlers-Danlos Syndrome

Management Guidelines

At this point no clinical practice guidelines for periodontal Ehlers-Danlos syndrome (pEDS) have been published. However, some recommendations exist [Authors, personal observation]. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with periodontal Ehlers-Danlos syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Periodontal Ehlers-Danlos Syndrome

Source: GeneReviews — "Periodontal Ehlers-Danlos Syndrome"

Clinical Guidance

Currently, evidence does not support a general recommendation that persons with pEDS avoid any specific activities/treatment/medications. However, this may vary on an individual basis; for example, in an individual with pEDS and arterial aneurysms, activities such as high-impact sports and weight lifting would be actively discouraged.

Source: GeneReviews — "Periodontal Ehlers-Danlos Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Periodontal Ehlers-Danlos Syndrome"

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with Periodontal Ehlers-Danlos Syndrome

System/Concern | Evaluation | Frequency

Early-onset severe

periodontitis | Detailed periodontal eval | At least annually

Supportive periodontal care incl reeval of periodontal parameters, oral hygiene instructions (e.g., use of interdental cleaning devices and electric toothbrushes), supra- sub-gingival debridement | The appropriate interval between periodontal maintenance visits should be ~3-6 mos based on the needs of the patient

Joint hypermobility

w/(sub)luxations

joint pain | By consultant rheumatologist, PT, OT | Depends on the specific concern(s)

Risk of arterial

aneurysm/

dissection | Some EDS services offer surveillance of the arterial tree in asymptomatic adults w/pEDS, w/multidisciplinary input in case of identified arterial aneurysm/dissection, but evidence for this approach is limited as the risk of arterial aneurysm/dissection in those w/pEDS is unknown but appears lower than in vEDS. | Surveillance of the arterial tree in asymptomatic adults is offered w/a frequency of 1.5-2 yrs by some EDS services.

OT = occupational therapist; PT = physical therapist

Source: GeneReviews — "Periodontal Ehlers-Danlos Syndrome"