Moreno García Ana, Grimalt Oliver Mireia, González-Moreno Juan, Ribot-Sansó María Antonia, Cisneros-Barroso Eugenia, Losada López Inés
Universitat de les Illes Balears, Palma, Spain.
Endocrinology and Nutrition, Hospital Universitario Son Llàtzer, Crta Manacor Km 4, Balearic Islands, Palma, 07198, Spain.
Orphanet J Rare Dis. 2025 May 2;20(1):210. doi: 10.1186/s13023-025-03727-y.
Variant transthyretin amyloidosis (A-ATTRv) can lead to sensory, motor, and autonomic neuropathy, as well as a variety of gastrointestinal (GI) disorders. While previous studies have explored gastrointestinal symptoms in A-ATTRv, no studies have definitively examined the role of bacterial overgrowth, such as SIBO, in exacerbating these symptoms. Identifying the presence of SIBO in A-ATTRv patients could lead to better-targeted treatments for gastrointestinal complications.We conducted a cross-sectional, unicentric observational pilot study, analysing the presence of SIBO using a lactitol breath test in 39 individuals carrying the V30M mutation: 21 asymptomatic carriers and 18 patients with A-ATTRv. We did not find a higher prevalence of SIBO, among patients with A-ATTRv compared to asymptomatic carriers. Though no significant relationship between SIBO and A-ATTRv was found, notable differences in gastrointestinal symptoms suggest these may be independent of SIBO. Furthermore, no relationship was found between the presence of SIBO and gender.Given the limitations of this pilot study, we did not find a relationship between A-ATTRv and intestinal microbiota disorders. Future research with larger sample sizes and more sensitive diagnostic tools is required to further explore this potential link.
变异型转甲状腺素蛋白淀粉样变性(A-ATTRv)可导致感觉、运动和自主神经病变,以及多种胃肠道(GI)疾病。虽然先前的研究探讨了A-ATTRv中的胃肠道症状,但尚无研究明确检查细菌过度生长(如小肠细菌过度生长)在加重这些症状中的作用。确定A-ATTRv患者中是否存在小肠细菌过度生长可能会为胃肠道并发症带来更有针对性的治疗方法。我们进行了一项横断面、单中心观察性试点研究,使用乳果糖呼气试验分析了39名携带V30M突变的个体中小肠细菌过度生长的情况:21名无症状携带者和18名A-ATTRv患者。与无症状携带者相比,我们未发现A-ATTRv患者中小肠细菌过度生长的患病率更高。虽然未发现小肠细菌过度生长与A-ATTRv之间存在显著关系,但胃肠道症状的显著差异表明这些症状可能与小肠细菌过度生长无关。此外,未发现小肠细菌过度生长的存在与性别之间存在关系。鉴于这项试点研究的局限性,我们未发现A-ATTRv与肠道微生物群紊乱之间存在关系。需要进行更大样本量和更敏感诊断工具的未来研究,以进一步探索这种潜在联系。