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Abstract
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.
| Abbreviations | ||
| FAP | = | familial amyloid polyneuropathy |
| CTS | = | carpal tunnel syndrome |
| TTR | = | transthyretin |
| Val30Met | = | methionine is substituted for valine at position 30 |
| Abbreviations | ||
| FAP | = | familial amyloid polyneuropathy |
| CTS | = | carpal tunnel syndrome |
| TTR | = | transthyretin |
| Val30Met | = | methionine is substituted for valine at position 30 |
Acknowledgement
This work was supported by a grant from Amyloid Research Committee, the Ministry of Public Health, Labor and Welfare, Japan and a Group Research Grant for the Pathogenesis and Therapy for Intractable Neuropathy.