Clinical practice and barriers in familial transthyretin-related amyloidotic polyneuropathy (FAP) care in Brazil

Abstract

Objective: To identify therapeutic approaches and variability in clinical practice, as well as unmet needs and barriers to adequate care for patients with familial transthyretin-related amyloidotic polyneuropathy (FAP) in Brazil. Methods: Cross-sectional study using an online semi-structured questionnaire sent by email. Physicians with experience in the clinical-care management of patients with FAP in Brazil were included. The questionnaire consisted of 30 questions involving general characteristics of the Brazilian population with FAP; characteristics of therapeutic choices and failure; definitions of disease progression and staging; and methods for measuring the impact on quality of life. Results: Six professionals responded to the survey. As for the diagnosis and classification of the disease, there was a consensus regarding the use of a clinical picture associated with genetic testing for the diagnosis and, as appropriate, the criteria proposed by Coutinho and the Ministry of Health, although not very useful in evaluating the progression of the disease. 83.3% of experts understand that the therapy currently available in the SUS meets the needs of patients in stage I of the disease, however, all experts point out unmet care needs, since this drug has no defined benefit for stages II and III of the disease. Disease progression is defined as any new symptom or worsening of pre-existing ones, and no change in the stage of the disease is necessary to characterize such an event. Conclusions: The conduction of this study allowed to identify important aspects to a better understanding of the clinical care practice in the country and unmet needs of these patients.