Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val30Met) - comparison of Swedish and Japanese patients

The aim of the present study was to compare the clinical symptoms of Swedis h and Japanese patients with familial amyloidotic polyneuropathy (ATTR Val3 0Met), especially gastrointestinal disturbances, and to correlate the findi ngs with survival. Seventy-three Swedish and 47 Japanese patients were available for the study . Thirty-two Swedish and 7 Japanese patients had undergone liver transplant ation. The mean age at onset was 50 for Swedish and 35 for Japanese patient s (P<0.001; non-transplanted patients). Fifty-five percent of Japanese pati ents had gastrointestinal disturbances from onset, compared to 22% of Swedi sh patients (P<0.05; whole population). The Swedish patients average surviv al after the onset was significantly longer than Japanese patients (P<0.05; non-transplanted patients). An early onset of gastrointestinal symptoms wa s correlated to a decreased survival for Swedish, hut not for Japanese pati ents. Age at onset was nor correlated to survival neither for Swedish nor f or Japanese patients. We conclude that the clinical expressions of familial amyloidotic polyneuro pathy ATTR Val30Met are different in Swellish and Japanese patients. The su rvival after the onset was shorter for Japanese patients, who also had an e arlier onset of gastrointestinal disturbances, especially diarrhea than Swe dish patients.