A Case of the Primary Amyloid Polyneuropathy

J Korean Neurol Assoc > Volume 13(4); 1995 > Article

Journal of the Korean Neurological Association 1995;13(4): 987-995.

원발성 아밀로이드 다발말초신경병증 1예

최병옥, 선우일남, 이진성, 김태승, 서미라

연세대학교 신경과. 소아과. 병리학교실. 세포유전학검사실

A Case of the Primary Amyloid Polyneuropathy

Byung Ok Choi, M.D., Il Nam Sunwoo, M.D., Jin Sung Lee, M.D., Tae Seung Kim, M.D., Mi Ra Suh, M.D.

Department of Neurology, Pediatricds, Pathology and Cytogenetic laboratory, College of Medicine Yonsei University

Abstract

Amyloidosis which represents neuropathy due to the systematic amyloid fibril deposits has two types; the non-hereditary primary amyloid polyneuropathy (PAP) and the familial amyloidotic polyneuropathy (FAP). The clinical manifestations of the two diseases are similar, but the FAP is an autosomal dominant disease and has better prognosis than the PAP. The PAP is a rare disease which displays relatively rapid progress and severe hypoalbum-inemia. We report a 50-year-old male patient admitted due to weight loss, orthostatic hypotension, and the unique sensory changes which pain and temperature sensations are decreased on the periumbilical area and lower extremity. The patient shows severe proteinuria, hypoalbuminemia and generalized edema. There are definite amyloid deposits in the biopsied sural nerve in the light and polarizing microscope and amyloid fibrils in the electron microscope. But no abnormality of transthyretin gene is found in this patient and one cousin. The transthyretin DNA analysis is useful for the differential diagnosis of PAP and FAP.