Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy.
We report here two patients with amyloidogenic transthyretin (ATTR) Val30Met familial amyloid polyneuropathy (FAP) who developed numbness in both hands and were diagnosed as having bilateral carpal tunnel syndrome (CTS). In both patients systemic TTR amyloidosis consisting of polyneuropathy affecting both upper and lower limbs and/or autonomic dysfunction gradually appeared after surgery for CTS. Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms. It is also notable that both patients had no genealogical relationship with two Japanese endemic foci of this disease.
Tojo
Kana
K
Tsuchiya-Suzuki
Ayako
A
Sekijima
Yoshiki
Y
Morita
Hiroshi
H
Sumita
Naoko
N
Ikeda
Shu-Ichi
S
D000368:Aged; D019943:Amino Acid Substitution; D000682:Amyloid / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000209:etiology / Q000235:genetics*; D002349:Carpal Tunnel Syndrome / Q000209:etiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D011228:Prealbumin / Q000235:genetics*
D000682:Amyloid; D011228:Prealbumin