Clinical and laboratory test in patients with familial amyloid polyneuropathy: differences between symptomatic patients and asymptomatic carriers

Results Out of a total of 20 patients: 14 women (70 %) with a median age of 47.5 years. All of asymptomatic carriers were diagnosed for family history and 90 % of the symptomatic patients had neurologic impairment demonstrated with pathological electroneurography (NC) (p=0.016). The symptomatic patients had higher variability of blood pressure both systolic (p=0.016) and diastolic (p=0.045) and of heart rate (p<0.005). Regarding laboratory test alterations this patients presented a decrease of free T4 (p<0.005) and an increase of cystatine C (p=0.046). As for the comparison by age-at-onset in 9 (45 %) cases the diagnosis was late-onset and 11 (55 %) early-onset. Mean age was 38.55 vs 61.56 years (p<0.005). The 63.6 % of the patients less than 50 years old were diagnosed for family history and all were asymptomatic, 62.5% of them had normal NC and 9.1 % were in clinical stage II. The late-onset in comparison with the other group had a decrease of total proteins (p=0.008) and an increase of Blood urea nitrogen (p<0.005) and cystatine C (p=0.04).