Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)

Arquivos de neuro-psiquiatria
Márcia Waddington CruzDébora Foguel

Abstract

Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). The THAOS is an international, noninterventional, longitudinal, observational, web-based registry designed to characterize ATTR. The outcome measures included demographics (age at symptom onset, gender, time from onset of symptoms to diagnosis, family history), genotype, and clinical characteristics (presence of amyloid deposit, frequency of misdiagnosis, presenting symptomatology). The analysis was conducted in a dataset from Brazilian patients (from November 2008 to January 2016). One hundred and sixty participants (52.5% male) were included in the analysis. The majority of participants (90.6%) reported a positive family history of ATTR-FAP Median age at symptom onset was 32.5 years. Val30Met mutatio...Continue Reading

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References

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Citations

Apr 10, 2020·Journal of Human Genetics·Jemima A da Silva-BatistaMarcela Câmara Machado-Costa
Jan 19, 2021·Muscle & Nerve·Marcus V PintoTeerin Liewluck
Aug 1, 2021·Neurology and Therapy·Juan González-MorenoLeslie Amass
Sep 23, 2021·Arquivos brasileiros de cardiologia·Marcus V SimõesEvandro Tinoco Mesquita

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