Physiological characterization of neuropathy in Fabry's disease

• Published in: Muscle & nerve Vol. 26; no. 5; pp. 622 - 629
• Main Authors: Luciano, Carlos A., Russell, James W., Banerjee, Tapas K., Quirk, Jane M., Scott, Leland J.C., Dambrosia, James M., Barton, Norman W., Schiffmann, Raphael
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 01-11-2002; Wiley
• Subjects: Adult; Biological and medical sciences; Errors of metabolism; Fabry Disease - pathology; Fabry Disease - physiopathology; Fabry's disease; Female; Humans; Lipids (lysosomal enzyme disorders, storage diseases); Male; Mechanoreceptors - physiology; Medical sciences; Metabolic diseases; Middle Aged; nerve conduction studies; Nerve Fibers, Myelinated - pathology; Nerve Fibers, Myelinated - physiology; Nerve Fibers, Unmyelinated - pathology; Nerve Fibers, Unmyelinated - physiology; Neural Conduction - physiology; Peripheral Nerves - pathology; Peripheral Nerves - physiopathology; Peripheral Nervous System Diseases - etiology; Peripheral Nervous System Diseases - pathology; Peripheral Nervous System Diseases - physiopathology; quantitative sensory testing; Sensory Thresholds - physiology; small-fiber neuropathy; Sympathetic Fibers, Postganglionic - pathology; Sympathetic Fibers, Postganglionic - physiopathology; thermal sensation; Thermosensing - physiology; Human; Peripheral nerve; Nervous system diseases; small-fiber neuropathy; Fabry disease; Cardiovascular disease; Metabolic diseases; Lipids; Sympathetic skin response; thermal sensation; Enzymopathy; Fabry's disease; Genetic disease; Vascular disease; Nerve conduction; Sensitivity; Median nerve; Adult; Electromyography; Diagnosis; Lipoidosis; quantitative sensory testing; Quantitative analysis; nerve conduction studies
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.10236

Fabry's disease is commonly associated with a painful, debilitating neuropathy. Characterization of the physiological abnormalities is an important step in evaluating response to specific therapies. Twenty‐two patients with Fabry's disease, and with relatively preserved renal function, underwent conventional and near‐nerve conduction studies, electromyography, sympathetic skin responses, and quantitative sensory testing (QST). Nerve conduction studies were mostly normal except for an increased frequency of median nerve entrapment at the wrist in 6 (27%) patients. Sympathetic skin responses were preserved in 19 of 20 (95%) of the patients. The QST showed increased or immeasurable cold and warm detection thresholds in patients, significantly different from controls (n = 28) in the hand (P < 0.001, P = 0.04, respectively) and foot (P < 0.001 for both). Cold thresholds were more often abnormal than were warm thresholds. Vibration thresholds were normal in the feet and, in some patients, elevated in the hand only, probably due to frequent median nerve entrapment at the wrist. Our findings suggest that the neuropathy of Fabry's disease is characterized by an increased prevalence of median nerve entrapment at the wrist and by thermal afferent fiber dysfunction in a length‐dependent fashion, with greater impairment of cold than warm sensation. © 2002 Wiley Periodicals, Inc. Muscle Nerve 26: 622–629, 2002