A group of scientists at the University of Lausanne in Switzerland recently conducted a study on the potential role of small nerve fiber dysfunction in 79 people with hEDS or HSD. The data suggests a possible contribution from the peripheral nervous system (the nerves that run throughout the body outside the brain and spinal cord) to hEDS/HSD.
Such knowledge may allow the medical community to help a better stratification of the heterogeneous hEDS/HSD population in terms of disease extent, disease severity, and therapeutic options for patients affected by hEDS or HSD.
HSD & hEDS: What’s the Difference?
To adequately recognize the continuum of joint hypermobility (JH), a major revision was made by creating and specifying various hypermobility spectrum disorders (HSD). From one end to the other, this spectrum ranges from asymptomatic joint hypermobility to hypermobile EDS (hEDS).
The primary difference between hypermobility spectrum disorder (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) is the fact that the latter has stricter criteria established in 2017. Thus, if someone was diagnosed with hEDS before the 2017 criteria was established, there is likely no reason for the patient to seek a new diagnosis.
EDS vs. hEDS
Disorders such as HDS and hEDS are categorized by less severe symptoms than related EDS disorders, including Classic EDS (cEDS) and Vascular EDS (vEDS).
Hypermobile Ehlers-Danlos syndrome is identified by generalized joint hypermobility (GJH), additional joint issues, and obvious skin signs, all of which are considered less severe than EDS disorders (although the criteria for hEDS is indeed stricter).
EDS is a rare disorder that occurs in at least 1 in 5,000 of the population. 80-90% of these affected patients could actually have cases of hEDS, which is why the medical community is making a diligent effort to learn more about hEDS through targeted research, disease management, and additional studies.
HDS & hEDS Study in Switzerland
The University of Lausanne conducted an HDS/hEDS study on a group of 56 people with hEDS and 23 people with HSD. Members of the study group reported at least moderate pain that impaired their day-to-day activities.
All patients underwent:
- A clinical examination
- Questionnaires
- Quantitative sensory testing (also known as QST, which entails the specific testing of small fiber function)
Results of the HDS & hEDS Study
According to the study, the following data was collected:
- 70% of patients showed signs of small nerve fiber dysfunction.
- Signs of abnormal nerve fiber structure were found in skin biopsies of 78% of patients.
- 58% of patients who underwent both assessments showed definite signs of small fiber neuropathy (indicating clear evidence of physical damage and electrical dysfunction). 33% of patients had possible neuropathy (abnormal function and structure, but not both).
- Only 6 patients showed no signs of small nerve fiber neuropathy at all.
Due to the large number of patients who displayed small nerve fiber abnormalities, the team concluded that the peripheral nervous system could potentially play a role in hEDS/HSD symptoms. In summary, scientists believe that small fiber pathology could offer better stratification of patients affected by hEDS and HDS.
Limitations of the HDS & hEDS Study
One of the acknowledged limitations of this particular Switzerland study includes its retrospective design. Most patients included in the study were referred to the clinic because they were experiencing symptoms indicative of small fiber dysfunction.
Consequently, the study could not maximize the opportunity to reflect a fuller population of HDS and hEDS patients. Remedying such limitations could permit the medical community to “[determine] more precisely the [small nerve damage] prevalence in a general population of hEDS/HSD, including those who are asymptomatic.”
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