Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy

J Peripher Nerv Syst. 2011 Dec;16(4):304-14. doi: 10.1111/j.1529-8027.2011.00365.x.


Fabry disease (FD) is an X-linked lysosomal storage disorder which may lead to impaired peripheral nerve function, mostly affecting small nerve fibers, and to neuropathic pain. Characteristics of the neuropathy associated with FD and the covariates for its development and temporal course have not been described in a large cohort. We studied small fiber function and morphology in 120 Fabry patients at baseline and in subgroups of these until 4-year follow-up. Baseline neurological (89/120) and electrophysiological (106/120) examination was mostly normal. Quantitative sensory testing revealed impaired cold detection thresholds in 84% of men and 39% of women. Lower leg intraepidermal nerve fiber density (IENFD) was reduced to 46% in Fabry patients compared to controls and to 12.5% in men with impaired renal function. Patients with abnormal IENFD more often had pain. Group means for IENFD did not improve under enzyme replacement therapy (ERT), but IENFD in the back increased under ERT in 4/15 patients with good renal function and clinical improvement. Cutaneous cytokine gene expression did not differ from controls. We conclude that ERT may improve proximal skin innervation in patients with good renal function, but does not protect small fiber function in men with impaired renal function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Electrophysiology
  • Enzyme Replacement Therapy
  • Fabry Disease / complications*
  • Fabry Disease / drug therapy*
  • Fabry Disease / physiopathology
  • Female
  • Follow-Up Studies
  • Humans
  • Kidney Diseases / etiology
  • Male
  • Middle Aged
  • Nerve Fibers / pathology*
  • Peripheral Nervous System Diseases / etiology
  • Peripheral Nervous System Diseases / physiopathology*
  • Skin / innervation
  • Young Adult
  • alpha-Galactosidase / therapeutic use*


  • alpha-Galactosidase