Neuropathic symptoms and findings in women with Fabry disease.
OBJECTIVE
To examine the neurologic and neurophysiologic findings and neurologic symptoms in 12 women with Fabry disease and to study the relationship between the subjective symptoms and the findings on the various tests done.


METHODS
Neurography, vibratory and thermal quantitative sensory testing (QST), skin biopsy for measuring intraepidermal nerve fiber density (IENFD). Heart rate variability (HRV) and sympathetic skin response (SSR) tests for detecting autonomic dysfunction, pain-, depression- and somatic symptom questionnaires and clinical examination.


RESULTS
Only two women had no persistent symptoms or signs of polyneuropathy, 10 had symptoms of small fiber neuropathy. Neurological examination was normal in most patients. Five patients had decreased IENFD or thermal hypoesthesia in QST. In QST, Adelta-fiber function for innocuous cold was more often impaired than C-fiber function. Conventional nerve conduction studies were mostly normal. Carpal tunnel syndrome (CTS) incidence was increased, 25% had symptomatic CTS.


CONCLUSIONS
Heterozygous women carrying the gene for Fabry disease have symptoms and findings of small-fiber polyneuropathy more often than has previously been considered. The prevalence of CTS is also increased.


CONCLUSIONS
While the clinical diagnosis of small-fiber neuropathy is difficult, the diagnostic yield can be increased using a combination of thermal QST and IENFD measurements.
Laaksonen
Satu M
SM
Department of Clinical Neurophysiology, Turku University Hospital, Kiinamyllynkatu 4-8, 20520 Turku, Finland. satu.laaksonen@utu.fi
Röyttä
Matias
M
Jääskeläinen
Satu K
SK
Kantola
Ilkka
I
Penttinen
Maila
M
Falck
Björn
B
D000293:Adolescent; D000328:Adult; D003863:Depression / Q000209:etiology; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D005712:Galvanic Skin Response / Q000502:physiology; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D006930:Hyperalgesia / Q000209:etiology; D008875:Middle Aged; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D010147:Pain Measurement / Q000379:methods; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000209:etiology*; D012684:Sensory Thresholds / Q000502:physiology; D011795:Surveys and Questionnaires; D013697:Thermosensing / Q000502:physiology