Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis: a Single-Centre Experience

Andrea Di Paolantonio, Antonio Gasbarrini, Paolo Calabresi, Mario Sabatelli, Marco Luigetti, Annalisa Tortora, Angela Romano, Valeria Guglielmino, Giulia Bisogni

Risultato della ricerca: Contributo in rivistaArticolo in rivista


Background and Aims: 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. Methods: 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. Results: 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. Conclusions: 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.
Lingua originaleEnglish
pagine (da-a)339-343
Numero di pagine5
Stato di pubblicazionePubblicato - 2020


  • diarrhea, neuropathy, Sudoscan, hereditary ATTRv amyloidosis, amyloid transthyretin

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