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Acta Neurológica Colombiana

Print version ISSN 0120-8748On-line version ISSN 2422-4022


CASTELLAR-LEONES, Sandra Milena; DIAZ-RUIZ, Jorge Arturo; ORTIZ-CORREDOR, Fernando  and  RUIZ-OSPINA, Edicson. Neurophysiologic characterization of small fiber function in heterozigous women with Fabry disease. Acta Neurol Colomb. [online]. 2021, vol.37, n.3, pp.127-132.  Epub Oct 22, 2021. ISSN 0120-8748.


Fabry disease is a genetic condition caused by alpha-galactosidase A deficiency triggering glycosphingolipid accumulation in tissues. Clinical manifestations are variable. Studies in heterozigous females report the existence of neuropathic pain as manifestation of small fiber neuropathy.


To determine presence of small fiber neuropathy in heterozigous females with Fabry disease through Quantitative Sensory Testing (QST).


33 heterozigous females with fabry disease and 33 healthy females with similar demographic characteristics were evaluated. QST was performed to every female evaluating Cold detection Threshold (CDT), Warm Detection Threshold (WDT), Heat-pain Detection Threshold (HPDT) and Vibratory Detection Threshold (VDT) in upper and lower limbs through Computer Assisted Sensory Examination software (CASE IV, WR Medical Electronics Co., Stillwater, MN). Subjective perception of neuropathic pain was measured through Positive Neuropathic Sensory Symptom questionnaire (P-NSS) in heterozigous females with Fabry disease. QST results were compared between groups. Correlations between QST and P-NSS were established.


Statistically significant differences were observed in VDT (p= 0,008), WDT (p= 0,017) and HPDT (p= 0,04) in lower limbs of heterozigous females with Fabry disease compared with control group. Negative correlation was found among burning pain intensity and HPDT at lower limbs (p= 0,018, r= -0,48) and among pain intensity to light touch and HPDT in lower limbs (p= 0,006, r=-0,49).


Objective tests to establish presence of small fiber neuropathy in heterozigous females with Fabry disease are abnormal at lower limbs and correlate with sensory symptoms.

Keywords : Pain Measurement; Neuralgia; Fabry Disease; Small Fiber Neuropathy; Sensory Thresholds; Enzyme Relacement Therapy (MeSH).

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