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Review
. 2019 Sep;29(Suppl 1):55-63.
doi: 10.1007/s10286-019-00628-6. Epub 2019 Aug 26.

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis

Laura Obici  1 , Ole B Suhr  2
Affiliations
Review

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis

Laura Obici et al. Clin Auton Res. 2019 Sep.

Abstract

Purpose: To review the management of gastrointestinal symptoms in patients with hereditary transthyretin amyloidosis, discussing diagnostic evaluations, assessment of disease progression and therapeutic strategies that could be implemented in routine practice.

Methods: Literature review. Key search terms included "gastrointestinal symptoms", "autonomic neuropathy", "hereditary transthyretin amyloidosis" and "familial amyloid polyneuropathy".

Results: Gastrointestinal disturbances are a common and serious manifestation of hereditary transthyretin amyloidosis, with significant effects on patients' quality of life and demonstrating a strong association with mortality. Gastrointestinal involvement is more often subclinical in the early stages of the disease, although in some patients gastric and/or bowel abnormalities may be the inaugural symptoms. In both cases, under-recognition, delayed investigation and suboptimal treatment frequently occur. A clear understanding of the mechanisms underlying gastrointestinal dysfunction in hereditary transthyretin amyloidosis is still lacking, but similar to diabetic enteropathy, multiple pathophysiological alterations seem to play a role.

Conclusions: Early detection and treatment of gastrointestinal disturbances is key to the successful treatment of this devastating disease. Gastroenterologists play a valuable role in both the diagnosis and the timely management of gastrointestinal symptoms in hereditary transthyretin amyloidosis and should, therefore, be part of a multidisciplinary and comprehensive approach to this disorder.

Keywords: Amyloidosis; Diarrhoea; Gastroparesis; Malabsorption; Transthyretin.

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Conflict of interest statement

Dr. Obici declares speaker and consultation honoraria from Pfizer, Alnylam and Akcea. Dr. Suhr declares speaker and consultation honoraria from Pfizer, Alnylam, Akcea and Intellia.

References

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    1. Wixner J, Mundayat R, Karayal ON, et al. THAOS: gastrointestinal manifestations of transthyretin amyloidosis-common complications of a rare disease. Orphanet J Rare Dis. 2014;9:61. - PMC - PubMed

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