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Affiliations
Radislav Nakov
Clinic of Gastroenterology, Tsaritsa Joanna University Hospital, Medical University, Sofia, Bulgaria
Stayko Sarafov
Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria
Ventsislav Nakov
Clinic of Gastroenterology, Tsaritsa Joanna University Hospital, Medical University, Sofia, Bulgaria
Mariana Gospodinova
Clinic of Cardiology, Medical Institute of Ministry of Interior, Sofia, Bulgaria
Tihomir Todorov
Genetic and Medico- Diagnostic Laboratory “Genica”, Sofia, Bulgaria
Andrey Kirov
Genetic and Medico- Diagnostic Laboratory “Genica”, Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria
Albena Todorova
Genetic and Medico- Diagnostic Laboratory “Genica”, Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria
Ivailo Tournev
Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria
How to Cite
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation
Abstract
Aims: In the current study we aimed to explore the prevalence of gastrointestinal (GI) manifestations in hereditary transthyretin amyloid (hATTR) amyloidosis associated with Glu89Gln mutation.
Methods: We recruited 78 patients with hATTR amyloidosis associated with Glu89Gln mutation. The diagnosis of hATTR was defined by a documented transthyretin mutation through DNA analysis. Symptoms were recorded as present or absent at the time of enrollment into the study. The gastrointestinal (GI) symptoms checklist included the following items: early satiety, nausea, vomiting, constipation, alternating diarrhea/ constipation, diarrhea, fecal incontinence and unintentional weight loss.
Results: Forty-two patients (53.8%) reported at least one GI symptom or sign. Diarrhea was the most frequently reported (30.8%), followed by unintentional weight loss (28.2%) and nausea (21.8%). Fecal incontinence (3.8%) was the least common one. No significant gender related difference in overall GI symptom prevalence was found (females 52.16%, males 55%, p = 0.834). Type of disease onset was not related to GI prevalence (earlyonset 50%, late-onset 55.6%, p=0.650). After dividing the patients into groups with a disease duration of <5 years, 5–10 years and >10 years, respectively, the prevalence of GI symptoms was found to be significantly higher in later stages (26.3% vs. 55.0% vs. 78.9%, p = 0.005; OR 2.450, 95% CI 1.084-5.538). Gastrointestinal manifestations had no impact on survival (p=0.193).
Conclusions: Gastrointestinal manifestations are very common in hATTR patients with Glu89Gln mutation and increase with disease duration. They are not associated with gender and onset of the disease and have no impact on patient survival. These results highlight the importance of a thorough evaluation of the GI function in patients with ATTR amyloidosis and should stimulate further studies on the phenotypic differences related to genotype and geographic origin.