Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv)
Abstract 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 o...
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BMC
2025-05-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03727-y |
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| author | Ana Moreno García Mireia Grimalt Oliver Juan González-Moreno María Antonia Ribot-Sansó Eugenia Cisneros-Barroso Inés Losada López |
| author_facet | Ana Moreno García Mireia Grimalt Oliver Juan González-Moreno María Antonia Ribot-Sansó Eugenia Cisneros-Barroso Inés Losada López |
| author_sort | Ana Moreno García |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-451fd57e394d405c92c926f15e657612 |
| institution | OA Journals |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-451fd57e394d405c92c926f15e6576122025-08-20T01:47:30ZengBMCOrphanet Journal of Rare Diseases1750-11722025-05-012011910.1186/s13023-025-03727-ySmall intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv)Ana Moreno García0Mireia Grimalt Oliver1Juan González-Moreno2María Antonia Ribot-Sansó3Eugenia Cisneros-Barroso4Inés Losada López5Universitat de les Illes BalearsEndocrinology and Nutrition, Hospital Universitario Son LlàtzerSudden Death and TTR Amyloidosis, Balearic Research Group in Genetic Cardiopathies, Health Research Institute of the Balearic Islands (IdISBa)Sudden Death and TTR Amyloidosis, Balearic Research Group in Genetic Cardiopathies, Health Research Institute of the Balearic Islands (IdISBa)Sudden Death and TTR Amyloidosis, Balearic Research Group in Genetic Cardiopathies, Health Research Institute of the Balearic Islands (IdISBa)Sudden Death and TTR Amyloidosis, Balearic Research Group in Genetic Cardiopathies, Health Research Institute of the Balearic Islands (IdISBa)Abstract 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.https://doi.org/10.1186/s13023-025-03727-yATTRTransthyretin amyloidosisSmall intestine bacterial overgrowthDigestive symptomsBreath test |
| spellingShingle | Ana Moreno García Mireia Grimalt Oliver Juan González-Moreno María Antonia Ribot-Sansó Eugenia Cisneros-Barroso Inés Losada López Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv) Orphanet Journal of Rare Diseases ATTR Transthyretin amyloidosis Small intestine bacterial overgrowth Digestive symptoms Breath test |
| title | Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv) |
| title_full | Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv) |
| title_fullStr | Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv) |
| title_full_unstemmed | Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv) |
| title_short | Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv) |
| title_sort | small intestinal bacterial overgrowth in variant transthyretin amyloidosis a attrv |
| topic | ATTR Transthyretin amyloidosis Small intestine bacterial overgrowth Digestive symptoms Breath test |
| url | https://doi.org/10.1186/s13023-025-03727-y |
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