RESULTS: Six hundred-forty-four patients were enrolled, 505 with the variant form (ATTRv) and 139 with wild-type (ATTRwt). Eleven different mutations were detected, the most common being Val50Met (47.5%) and V142Ile (39.2%). Overall, more than half of the patients presented cardiac involvement, and the difference in this proportion between the ATTRv and ATTRwt groups was significant (43.9 vs. 89.9%; p < 0.001). The prevalence of the neurological phenotype also differed between ATTRv and ATTRwt (56.8 vs. 31.7%; p < 0.001). The mixed phenotype was found in 25.6% of the population, without a significant difference between ATTRv and ATTRwt groups. A group of patients remained asymptomatic (10.4%), with a lower proportion of asymptomatic ATTRwt patients.
CONCLUSIONS: This study details the clinical and genetic spectrum of patients with ATTR in São Paulo, Brazil. This preliminary analysis highlights the considerable phenotypic heterogeneity of neurological and cardiac manifestations in patients with variant and wild-type ATTR.
结果:纳入了64名患者,505具有变体形式(ATTRv)和139具有野生型(ATTRwt)。检测到11种不同的突变,最常见的是Val50Met(47.5%)和V142Ile(39.2%)。总的来说,超过一半的患者出现心脏受累,ATTRv组和ATTRwt组之间的这一比例差异显著(43.9vs.89.9%;p<0.001)。ATTRv和ATTRwt之间的神经系统表型患病率也有所不同(56.8vs.31.7%;p<0.001)。在25.6%的人群中发现混合表型,ATTRv和ATTRwt组之间没有显着差异。一组患者仍然无症状(10.4%),无症状ATTRwt患者比例较低。
结论:本研究详细介绍了圣保罗ATTR患者的临床和遗传谱,巴西。该初步分析突出了变异型和野生型ATTR患者的神经和心脏表现的相当大的表型异质性。