Neuropathy can also occur in all types of EDS, but does occur more frequently in patients with Tenascin X deficiency. Described were polyneuropathy, compression neuropathy, epilepsy and a lot of other neurological issues in connection with EDS. It is very important that neurologists are well educated about EDS, because they could also see so far undiagnosed EDS patients.
To diagnose the different forms of neuropathy there has to be a clinical examination which leads the direction, followed by neurophysiological tests to confirm the form of neuropathy.
Castori M, Voermans NC. Neurological manifestations of Ehlers-Danlos syndrome (s): A review. Iranian journal of neurology. 2014 Oct 6;13(4):190.
Voermans NC, Knoop H, van Engelen BG. High frequency of neuropathic pain in Ehlers-Danlos syndrome: an association with axonal polyneuropathy and compression neuropathy?. Journal of pain and symptom management. 2011 May 31;41(5):e4-6.
A common but hard to diagnose form of neuropathy is
Small Fiber Neuropathy.
Small fiber neuropathy is a condition which affects the small unmyelated peripheral nerves. They innervate the skin and internal organs.
Symptoms: burning pain beginning in the lower extremities, often at night; Paresthesia, tingling, numbness.
Causes: Diabetes mellitus, connective tissue disease, Vit B12 deficiency, Hepatitis, HIV, Alcohol abuse, Idiopathic, Vasculititis, Amyloidosis, Fabry disease.
NCV and EMG are usually normal,
Needle test and temperature sensitivity sometimes decreases,
Sympathetic skin response sometimes pathologic,
Safest way to diagnose is a skin biopsy of the lower leg (10 cm above the lateral malleolus). 90 percent of all skin biopsies are positive.
All nerve fibers which cross the epidermal barrier are counted. The density of the intradermal nerve fibers is reduced in SFN.
Treatment of small fiber neuropathy is very hard and mostly consists of pain meds of different classes.
Devigili G, Tugnoli V, Penza P, Camozzi F, Lombardi R, Melli G, Broglio L, Granieri E, Lauria G. The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. Brain. 2008 Jul 1;131(7):1912-25.
Dr. Henderson talking about neurological issues in EDS