Improving assessments in the diagnosis of small fiber neuropathy

Thin-fiber neuropathy is characterized by neuropathic pain and autonomic dysfunction. The functions affected are automatic and cannot be actively and/or consciously influenced, such as heart rhythm, sweating pattern and problems with micturition (urination) and defecation (excretion). Currently, the diagnosis is made based on the clinical picture combined with an abnormal temperature threshold test and/or abnormal skin biopsy, without abnormalities on electromyography (EMG). Sometimes we see patients who do have the symptoms of neuropathic pain and autonomic symptoms appropriate to thin fiber neuropathy but unfortunately cannot diagnose it with the aforementioned examinations. Thus, at this time there is no gold standard. For this reason, research was conducted into techniques that can make an (additional) contribution to making this diagnosis. In addition, in this dissertation attention was paid to the genetic contribution to thin fiber neuropathy.