Clinical manifestations and diagnosis of amyloid polyneuropathy

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Abstract
Primary systemic amyloidosis is a disease with protean manifestations. It rarely presents primarily as a neurologic syndrome. In such cases, the diagnosis is usually made at necropsy. Three patients with a chronic progressive polyneuropathy and biopsy evidence of amyloidosis are reported. The pertinent literature is reviewed. The histories of patients with amyloid neuropathy are analyzed, and a clinical syndrome is defined which separates the neuropathy of amyloidosis from that of other causes. The important associated clinical features are (1) chronic gastrointestinal disturbances, (2) nonspecific electrocardiographic abnormalities, (3) hoarseness, and (4) autonomic dysfunction manifested by orthostatic hypotension, early impotence, trophic ulcers, and dyshidrosis. Evidence for a genetically determined defect as the basis of amyloidosis is presented. The use of rectal biopsy is discussed. It is a relatively benign technic, which should prove effective in the premortem diagnosis of this condition.