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Review
. 2019 Sep;29(Suppl 1):25-31.
doi: 10.1007/s10286-019-00624-w. Epub 2019 Sep 10.

Strategies to improve the quality of life in patients with hereditary transthyretin amyloidosis (hATTR) and autonomic neuropathy

Thierry Gendre  1   2 , Violaine Planté-Bordeneuve  3   4
Affiliations
Review

Strategies to improve the quality of life in patients with hereditary transthyretin amyloidosis (hATTR) and autonomic neuropathy

Thierry Gendre et al. Clin Auton Res. 2019 Sep.

Abstract

Purpose: Hereditary transthyretin amyloidosis (hATTR) is a severe adult-onset progressive disease mainly involving the peripheral nervous system and the heart, with a prominent impact on the autonomic nervous system. This review summarizes the clinical aspects of autonomic dysfunction in hATTR, and their impact on quality of life as well as potential therapeutic options.

Methods: Literature review.

Results: Autonomic dysfunction, causing neurogenic orthostatic hypotension, gastroparesis, constipation, diarrhea, bladder dysfunction, and erectile dysfunction in males, has a major impact on the quality of life of patients with hATTR. Improvement of qualify of life in patients with hATTR implies periodic symptomatic screening and early management, taking into consideration comorbidities and medication side effects. The specific effect of the disease-modifying treatment on this aspect remains to be unraveled.

Conclusions: Management of autonomic dysfunction in patients with hAATR is feasible and can result in improved qualify of life. Novel disease-modifying treatments for hAATR may contribute to improve autonomic dysfunction, although specific studies are required.

Keywords: Autonomic neuropathy; Hereditary transthyretin amyloidosis; Orthostatic hypotension; quality of life.

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Conflict of interest statement

Nothing to disclose.

Figures

Fig. 1
Fig. 1
Impact of specific aspects of autonomic dysfunction on dimensions of QoL in patients with hereditary transthyretin amyloidosis
See this image and copyright information in PMC

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References

    1. Adams D, Gonzalez-Duarte A, O’Riordan WD, Yang CC, Ueda M, Kristen AV, Tournev I, Schmidt HH, Coelho T, Berk JL, Lin KP, Vita G, Attarian S, Plante-Bordeneuve V, Mezei MM, Campistol JM, Buades J, Brannagan TH, 3rd, Kim BJ, Oh J, Parman Y, Sekijima Y, Hawkins PN, Solomon SD, Polydefkis M, Dyck PJ, Gandhi PJ, Goyal S, Chen J, Strahs AL, Nochur SV, Sweetser MT, Garg PP, Vaishnaw AK, Gollob JA, Suhr OB. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018;379:11–21. doi: 10.1056/NEJMoa1716153. - DOI - PubMed
    1. Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952;75:408–427. doi: 10.1093/brain/75.3.408. - DOI - PubMed
    1. Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Plante-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH, 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceicao I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379:22–31. doi: 10.1056/NEJMoa1716793. - DOI - PubMed
    1. Burakgazi AZ, Alsowaity B, Burakgazi ZA, Unal D, Kelly JJ. Bladder dysfunction in peripheral neuropathies. Muscle Nerve. 2012;45:2–8. doi: 10.1002/mus.22178. - DOI - PubMed
    1. Carvalho A, Rocha A, Lobato L. Liver transplantation in transthyretin amyloidosis: issues and challenges. Liver Transpl. 2015;21:282–292. doi: 10.1002/lt.24058. - DOI - PubMed

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