Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes
Citation Manager Formats
Make Comment
See Comments

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Abstract
Objective: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS).
Methods: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded. Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex- and age-adjusted normative reference values.
Results: Our cohort included 20 adults with joint hypermobility syndrome/hypermobility EDS, 3 patients with vascular EDS, and 1 patient with classic EDS. All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire. Pain intensity was moderate (NRS ≥4 and <7) in 8 patients and severe (NRS ≥7) in 11 patients. Sural nerve conduction study was normal in all patients. All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type.
Conclusions: SFN is a common feature in adults with EDS. Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS.
GLOSSARY
- cEDS=
- classic Ehlers-Danlos syndrome;
- DN4=
- Douleur Neuropathique 4;
- EDS=
- Ehlers-Danlos syndrome;
- hEDS=
- hypermobility Ehlers-Danlos syndrome;
- IENFD=
- intraepidermal nerve fiber density;
- JHS=
- joint hypermobility syndrome;
- NRS=
- Numeric Rating Scale;
- SFN=
- small fiber neuropathy;
- SFN-SIQ=
- Small Fiber Neuropathy and Symptoms Inventory Questionnaire;
- SNAP=
- sensory nerve action potential;
- vEDS=
- vascular Ehlers-Danlos syndrome
Footnotes
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
↵* These authors contributed equally to this work.
- Received January 13, 2016.
- Accepted in final form April 1, 2016.
- © 2016 American Academy of Neurology
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
For assistance, please contact:
AAN Members (800) 879-1960 or (612) 928-6000 (International)
Non-AAN Member subscribers (800) 638-3030 or (301) 223-2300 option 3, select 1 (international)
Sign Up
Information on how to subscribe to Neurology and Neurology: Clinical Practice can be found here
Purchase
Individual access to articles is available through the Add to Cart option on the article page. Access for 1 day (from the computer you are currently using) is US$ 39.00. Pay-per-view content is for the use of the payee only, and content may not be further distributed by print or electronic means. The payee may view, download, and/or print the article for his/her personal, scholarly, research, and educational use. Distributing copies (electronic or otherwise) of the article is not allowed.
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Dr. David E. Vaillancourt and Dr. Shannon Y. Chiu
► Watch
Related Articles
- No related articles found.
Topics Discussed
Alert Me
Recommended articles
-
Articles
Epidermal nerve fiber density and sural nerve morphometry in peripheral neuropathiesD.N. Herrmann, J.W. Griffin, P. Hauer et al.Neurology, November 01, 1999 -
Articles
Correlates of epidermal nerve fiber densities in HIV-associated distal sensory polyneuropathyL. Zhou, D. W. Kitch, S. R. Evans et al.Neurology, June 11, 2007 -
Articles
Painful sensory neuropathyProspective evaluation using skin biopsyM.I. Periquet, V. Novak, M.P. Collins et al.Neurology, November 01, 1999 -
Article
Intraepidermal nerve fiber density in patients with painful sensory neuropathyN. R. Holland, A. Stocks, P. Hauer et al.Neurology, March 01, 1997