Denervation of eccrine glands in patients with familial amyloidotic polyneuropathy type I.
OBJECTIVE
To study the alterations in the structure and innervation of eccrine glands in familial amyloidotic polyneuropathy (FAP) type I with Val 30 Met transthyretin mutation.


BACKGROUND
Anhidrosis of the distal lower limbs is a prominent feature of FAP type I.


METHODS
Qualitative and morphometric study of amyloid deposition, eccrine glands, and their innervation in nine patients with FAP type I (duration of sensory symptoms, 8.4 +/- 3.9 years [mean +/- SD]; range, 3 to 15 years) and seven control subjects.


RESULTS
On light microscopy, the endoneurium of cutaneous nerve fascicles had no definite amyloid deposition. Amyloid deposition was observed around eccrine glands in seven of nine patients. On electron microscopy, no focal destruction and degeneration of eccrine glands or ducts and of Schwann cell processes with or without nerve terminals or unmyelinated axons were observed in relation to adjacent amyloid deposition. Secretory vacuoles and granules of dark cells were markedly decreased in some secretory coils. Nerve terminals and unmyelinated axons of eccrine glands were considerably fewer in patients than in control subjects, and denervation was prominent in all patients. A few nerve terminals and unmyelinated axons of eccrine glands were present in patients who had experienced sensory symptoms for 3, 5, and 6 years, but were absent in patients with sensory symptoms for more than 7 years.


CONCLUSIONS
Eccrine glands are markedly to totally denervated in patients with FAP type I and chronic sensory symptoms. The extent of denervation indicates the severity of autonomic denervation and therefore may suggest the timing of liver transplantation.
Ohnishi
A
A
Department of Neurology, School of Medicine, Institute of Industrial Ecological Sciences, University of Occupational and Environmental Health, Kitakyushu, Japan.
Yamamoto
T
T
Murai
Y
Y
Ando
Y
Y
Ando
M
M
Hoshii
Y
Y
Ikeda
M
M
D000328:Adult; D000682:Amyloid / Q000378:metabolism*; D017772:Amyloid Neuropathies / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D001706:Biopsy; D003714:Denervation; D004439:Eccrine Glands / Q000294:innervation* / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009412:Nerve Fibers / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D012583:Schwann Cells / Q000473:pathology / Q000648:ultrastructure
D000682:Amyloid