Table 1.
Clinical Manifestations and Epidemiology of the Most Common hATTR Mutations
| Mutation | Epidemiology | Peripheral Neuropathy | Autonomic Neuropathy | Cardiomyopathy | Ocular Involvement | Gastrointestinal Involvement | Renal Involvement |
|---|---|---|---|---|---|---|---|
| Val30Met (early onset) |
Portugal, Brazil | ++ | +++ | ± | + | ++ | + |
| Val30Met (late onset) |
Japan, Sweden, USA, Italy, France |
+++ | + | ++ | + | + | ± |
| Val122Ile | USA | ± | ± | +++ | ± | ± | ± |
| Thr60Ala | UK, USA | + | + | +++ | ± | ± | ± |
| Glu89Gln | Italy, Bulgaria | ++ | ++ | ++ | ± | + | ± |
| Ser50Arg | Japan, France, Italy, USA | +++ | +++ | ± | ± | + | ± |
| Phe64Leu | USA, Italy | ++ | ++ | ++ | ± | + | ± |
| Ile68Leu | Germany, Italy | ± | ± | +++ | ± | ± | ± |
| Ser77Tyr | USA, France, Israel | ++ | ++ | ++ | ± | + | + |
| Ile107Val | USA, France, Brazil | ++ | ++ | ++ | ± | ± | ± |
| Asp38Ala | Japan | ++ | ++ | ++ | ± | ± | ± |
Notes: The number of “+” provides an indication of the likelihood of presence of symptoms, with “±” indicating an unknown likelihood as the symptom is present in some patients and not in others.