Trigger finger as an initial manifestation of familial amyloid polyneuropathy in a patient with Ile107Val TTR.
We describe a Japanese family with transthyretin Val107-related familial amyloid polyneuropathy (FAP). The clinical features were high-aged onset, sensorimotor polyneuropathy, carpal tunnel syndrome (CTS) and trigger finger. In addition, the proband showed cardiac conduction block and amyloid deposition in the sural nerve and dermis. Trigger finger may be a so far unknown clinical manifestation of Val107 FAP due to amyloid deposition in the connective tissue like CTS.
Uotani
Kyotaro
K
Department of Neurology, Tokyo Metropolitan Neurological Hospital. ukyo@pop06.odn.ne.jp
Kawata
Akihiro
A
Nagao
Masahiro
M
Mizutani
Toshio
T
Hayashi
Hideaki
H
D017668:Age of Onset; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics*; D002349:Carpal Tunnel Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011228:Prealbumin / Q000235:genetics*; D052582:Trigger Finger Disorder / Q000175:diagnosis / Q000235:genetics*; D014633:Valine / Q000235:genetics*
D011228:Prealbumin; D007532:Isoleucine; D014633:Valine