Screening of transthyretin-related hereditary amyloidosis among patients with disautonomy diagnosed by the head-up tilt table test

• Grant number: 19/07409-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: August 01, 2019
• End date: July 31, 2020
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Fernando Gomes Romeiro
• Grantee: Beatriz Imai Crisostomo Correa
• Host Institution: Faculdade de Medicina (FMB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an inherited debilitating neurodegenerative disease that is irreversible and potentially fatal. Unfortunately, the disease is often diagnosed too late, years after its first manifestations, especially when the patient is the first confirmed case in the family, causing sensorimotor symptoms and progressive autonomic neuropathy. The mortality rate increases 11% per year after the first symptoms, requiring a high degree of awareness to avoid a late diagnosis. In non-endemic countries such as Brazil, the disease is rare and the symptoms are non-specific, thus delaying the diagnosis and reducing the chances of a successful treatment. Since dysautonomia is one of the disease's manifestations, this project aims to utilize the findings of autonomic neuropathy from the head-up tilt table test as a starting point to apply the genetic tests, offering a cost-effective protocol to diagnose TTR-FAP among patients with dysautonomic complaints. Retrospective and prospective analyses of the head-up tilt table tests performed in the hospital between January/2012 and December/2019 will be employed to find patients with dysautonomia, who will be invited to participate. According to the number of patients submitted to the head-up tilt table test every year, it is estimated that 131 subjects will be included. For these patients, a deep research will be done in their medical charts, looking for symptoms related to the TTR-FAP, and the genetic test of transtiretin mutations will be offered. Once the disease is confirmed, the patient will be assisted by a multidisciplinary team in the hospital to assess the disease stage and to promote the best therapeutic options. Since liver transplantation is performed in the hospital, this option can be offered if the multidisciplinary team and the patients agree with this treatment.