Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Roma; Università Cattolica del Sacro Cuore, Roma, Italy.
Università Cattolica del Sacro Cuore, Roma; Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Gastroenterologia, Roma, Italy.
J Gastrointestin Liver Dis. 2020 Sep 9;29(3):339-343. doi: 10.15403/jgld-2474.
Hereditary transthyretin (ATTRv) amyloidosis represents a diagnostic challenge considering the great variability in clinical presentation and multiorgan involvement. In this study we report the prevalence of gastrointestinal (GI) involvement of patients with hereditary ATTRv amyloidosis from one single center of Italy, a non-endemic area.
We retrospectively analyzed a cohort of 39 patients with hereditary ATTRv amyloidosis followed at the Neurology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome, Italy. All patients had a documented mutation in the gene encoding the thansthyretin. Neurological, cardiological and gastrointestinal manifestations were systematically collected at every monitoring visit.
82% reported at least one GI symptom. Unintentional weight loss was the most frequently reported. Lower GI symptoms were more frequent than upper GI symptoms (66.7% vs. 35.9%, p=0.0122). The first GI symptom was always reported within 5 years since disease onset. Gastrointestinal symptoms were almost always present in patients with Val30Met mutation (93.8%, 15/16), and in more than half of the cases with Phe64Leu mutation (66.7%, 8/12). All cases with a non-Val30Met mutation disclosed almost all GI symptoms within 5 years since disease onset; conversely, patients with Val30Met mutation continued to develop further GI manifestations during the disease course.
Prevalence of GI symptoms in our cohort was 82%, resulting in a higher prevalence than reported in the THAOS registry. Gastroenterologists, therefore, play an important role for the management of the disease, and their expertise should be valued for an effective multidisciplinary approach to this condition.
遗传性转甲状腺素蛋白（ATTRv）淀粉样变性由于临床表现和多器官受累的极大变异性而构成诊断挑战。在这项研究中，我们报告了来自意大利一个非流行地区的单一中心的遗传性 ATTRv 淀粉样变性患者的胃肠道（GI）受累患病率。
我们回顾性分析了在意大利罗马 Fondazione Policlinico Universitario A. Gemelli IRCCS 神经病学系就诊的 39 例遗传性 ATTRv 淀粉样变性患者的队列。所有患者均有编码转甲状腺素蛋白的基因突变。在每次监测就诊时，系统地收集了神经、心脏和胃肠道表现。
82%的患者报告了至少一种 GI 症状。非故意体重减轻是最常报告的症状。下 GI 症状比上 GI 症状更常见（66.7%比 35.9%，p=0.0122）。首次 GI 症状总是在疾病发病后 5 年内报告。Val30Met 突变的患者几乎都有胃肠道症状（93.8%，15/16），而 Phe64Leu 突变的患者中超过一半有胃肠道症状（66.7%，8/12）。所有非 Val30Met 突变的病例在疾病发病后 5 年内几乎都出现了所有的 GI 症状；相反，Val30Met 突变的患者在疾病过程中仍会出现进一步的 GI 表现。
我们的队列中 GI 症状的患病率为 82%，高于 THAOS 登记处报告的患病率。因此，胃肠病学家在疾病管理中发挥着重要作用，他们的专业知识应该为这种疾病的有效多学科方法提供价值。
