Abstract
ObjectiveScreening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has never been systematically investigated. Our aim is to determine the presence of Fabry disease in patients with small fiber neuropathy.MethodsPatients referred to our institute, who met the criteria for isolated small fiber neuropathy were tested for Fabry disease by measurement of alpha-Galactosidase A activity in blood, lysosomal globotriaosylsphingosine in urine and analysis on possible GLA gene mutations.Results725 patients diagnosed with small fiber neuropathy were screened for Fabry disease. No skin abnormalities were seen except for redness of the hands or feet in 30.9% of the patients. Alfa-Galactosidase A activity was tested in all 725 patients and showed diminished activity in eight patients. Lysosomal globotriaosylsphingosine was examined in 509 patients and was normal in all tested individuals. Screening of GLA for mutations was performed for 440 patients, including those with diminished α-Galactosidase A activity. Thirteen patients showed a GLA gene variant. One likely pathogenic variant was found in a female patient. The diagnosis Fabry disease could not be confirmed over time in this patient. Eventually none of the patients were diagnosed with Fabry disease.ConclusionsIn patients with isolated small fiber neuropathy, and no other signs compatible with Fabry disease, the diagnostic yield of testing for Fabry disease is extremely low. Testing for Fabry disease should be considered only in cases with additional characteristics, such as childhood onset, cardiovascular disease, renal failure, or typical skin lesions.
Highlights
Small fiber neuropathy (SFN) is a disorder of the thinly myelinated Aδ-fibers and unmyelinated C-fibers
Patients referred to our institute, who met the criteria for isolated small fiber neuropathy were tested for Fabry disease by measurement of alpha-Galactosidase A activity in blood, lysosomal globotriaosylsphingosine in urine and analysis on possible GLA gene mutations
725 patients diagnosed with small fiber neuropathy were screened for Fabry disease
Summary
Small fiber neuropathy (SFN) is a disorder of the thinly myelinated Aδ-fibers and unmyelinated C-fibers. These fibers are responsible for the sensation of temperature and pain and regulate a great deal of the autonomic nervous system. SFN is clinically characterized by neuropathic pain and autonomic symptoms [1, 2]. Patients with SFN experience different types of pain mainly described as a burning sensation, itching, prickling, or shooting pains. These symptoms usually occur in a symmetrical length-dependent pattern [3], but non-length dependent patterns have been described [4]. An underlying cause cannot be identified in 38–48% of the patients [5, 9]
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