Submitted by David B. Rosenfield, MD, News Science Editorial Board
Edited by Niranjan N. Singh, MD, News Science Editorial Board
Godel T, Baumer P, Pham M, et al. Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Fabry Disease (FD) is a life-limiting, inherited X-linked lysosomal storage disorder that presents early with symptoms of painful small fiber neuropathy. Mutations in the GLA
gene cause a deficiency of alpha-galactosidase A, resulting in intracellular accumulation of glycolipids, primarily globotriasylceramide (Gb3) in a wide range of cells throughout the body.
FD patients complain of neuropathic pain and attacks of pain early in the course of their disease, reflecting damage to small fiber neurons of the peripheral and autonomic nervous systems, affecting 60-80% of males and 40-60% of females. The pathophysiology of painful neuropathy is uncertain: some propose that glycolipid accumulate in the Dorsal Root Ganglion (DRG) as well as the peripheral nerve segment, causing ischemic, inflammatory and toxic nerve damage.
The authors prospectively studied 11 men with FD with MRI (3 Tesla), with/without contrast, and investigated the lumbosacral DRG and proximal peripheral nerve segments. All 11 patients had symmetrically enlarged DRG: L3: 78% enlargement; L4: 94% enlargement; L5: 122% enlargement; S1: 115% enlargement; S1: 119% enlargement. Further, they had decreased permeability of the blood-tissue interface (53% decrease). Spinal nerve permeability did not reveal any difference between FD and controls. The authors conclude that the DRG might play a key pathophysiologic role in the development of neuropathy and pain in FD.
This is an interesting study on a rare disease showing unique dorsal root ganglia enlargement in patients with FD and pain crisis. In hereditary sensory radicular neuropathy, familial dysautonomia, and tabes dorsalis, changes in dorsal root ganglia cells cause similar clinical signs.