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

Abstract

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.

Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience

“…ATTRv amyloidosis represents a diagnostic challenge considering the great variability in clinical presentation and multiorgan involvement. Generally, patients present with polyneuropathy, but clinicians should also consider the frequent cardiac, ocular and gastro-intestinal impairment [3][4][5][6]. However, the pattern of clinical impairment may vary according to the geographic areas.…”

Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study

“…ATTRv amyloidosis represents a diagnostic challenge considering the great variability in clinical presentation and multiorgan involvement [1,2]. Generally, this neurogenetic disease is characterized by polyneuropathy, but clinicians should consider also the frequent cardiac, ocular, and gastro-intestinal impairment [3][4][5]. However, the pattern of clinical impairment may vary according to the geographic area.…”

Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic Subjects

“…Hereditary transthyretin amyloidosis (ATTRv; v for “variant”) is an autosomal dominant, progressive, and life-threatening disorder caused by mutations in the transthyretin (TTR) gene [ 1 , 2 ]. The disease results from an extracellular deposition of amyloid fibrils in a variety of organs, leading to a multisystemic condition with a prevalent involvement of the peripheral nervous system (transthyretin amyloid polyneuropathy, ATTR-PN) and heart (transthyretin amyloid cardiomyopathy, ATTR-CM), but kidney, ocular vitreous, liver, and gastrointestinal tract may also be involved [ 3 , 4 , 5 , 6 ]. In the past decades, significant advances have been achieved in the treatment of ATTRv amyloidosis as several therapies with the potential to delay the disease progression have emerged [ 7 , 8 , 9 , 10 ], especially if started early during the course of the illness [ 11 ].…”