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Clin Auton Res. 2019 Aug 26. doi: 10.1007/s10286-019-00628-6. [Epub ahead of print]

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis.

Author information

1
Amyloidosis Research and Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Viale Golgi, 19, 27100, Pavia, Italy. l.obici@smatteo.pv.it.
2
Department of Medicine, Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.

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

PMID:
31452022
DOI:
10.1007/s10286-019-00628-6

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