Patterns of neuropathy and autonomic failure in patients with amyloidosis.
OBJECTIVE
To define the clinical patterns of peripheral neuropathy and autonomic testing abnormalities in patients with amyloidosis.


METHODS
A retrospective chart review was conducted of 65 patients who had biopsy-proven amyloidosis and autonomic function testing between January 1, 1985, and December 31, 1997, at Mayo Clinic's site in Rochester, MN. Patients were required to have neurologic evaluation, autonomic reflex screening, and tissue confirmation of amyloidosis.


RESULTS
We identified 5 clinical patterns of peripheral neuropathy: (1) generalized autonomic failure and polyneuropathy with pain (40 patients [62%]), (2) generalized autonomic failure and polyneuropathy without pain (11 [17%]), (3) isolated generalized autonomic failure (7 [11%]), (4) polyneuropathy without generalized autonomic failure (4 [6%]), and (5) generalized autonomic failure and small-fiber (ie, autonomic and somatic C-fiber) neuropathy (3 [5%]). Moderately severe generalized autonomic failure, involving adrenergic, cardiovagal, or sudomotor domains, was found in all patients, including those without clinically manifested autonomic failure. The diagnosis of amyloidosis was delayed in patients who did not have initial symptoms of pain or generalized autonomic failure (48 months to diagnosis in patients with polyneuropathy without autonomic failure vs 12 months to diagnosis in patients with autonomic failure and small-fiber neuropathy; P=.57).


CONCLUSIONS
Physicians should test for symptoms of generalized autonomic failure in patients who have peripheral neuropathy of unknown origin. Autonomic testing may give abnormal results in patients without overt symptoms of autonomic failure. Early recognition of autonomic failure may lead to earlier diagnosis of the underlying pathogenesis of amyloidosis, as well as earlier treatment for patients with this condition.
Wang
Annabel K
AK
Department of Neurology, University of California, Irvine, USA.
Fealey
Robert D
RD
Gehrking
Tonette L
TL
Low
Phillip A
PA
D000328:Adult; D000368:Aged; D017772:Amyloid Neuropathies / Q000175:diagnosis*; D001342:Autonomic Nervous System Diseases / Q000175:diagnosis*; D004576:Electromyography; D007172:Erectile Dysfunction / Q000175:diagnosis; D005260:Female; D005767:Gastrointestinal Diseases / Q000175:diagnosis; D006801:Humans; D035002:Lower Extremity / Q000294:innervation; D008297:Male; D008875:Middle Aged; D009412:Nerve Fibers / Q000502:physiology; D036421:Nerve Fibers, Unmyelinated / Q000502:physiology; D010147:Pain Measurement; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis*; D011115:Polyneuropathies / Q000175:diagnosis; D011187:Posture / Q000502:physiology; D011681:Pupil Disorders; D012021:Reflex, Abnormal; D012189:Retrospective Studies; D013547:Sweating, Gustatory / Q000175:diagnosis; D034941:Upper Extremity / Q000294:innervation; D014555:Urination Disorders / Q000175:diagnosis; D020421:Vagus Nerve Diseases / Q000175:diagnosis; D014666:Vasomotor System / Q000503:physiopathology; D014985:Xerophthalmia / Q000175:diagnosis; D014987:Xerostomia / Q000175:diagnosis