40 years of CEPARM - transforming amyloidosis related to transthyretin from neglect to recognition

Sep 29, 2026

Variant transthyretin amyloidosis (ATTRv), previously called familial amyloidotic polyneuropathy (FAP), is a severe, progressive, mutation-driven disorder that forms amyloid deposits in peripheral nerves and the heart. The article reviews how CEPARM, founded in 1984, shifted FAP from a neglected, low-prestige condition toward wider recognition. It highlights progress through liver transplantation, development of pharmacological therapies, and comprehensive patient care, while addressing remaining challenges and ethical issues.

LanguageEnglish

CategoryHealthcare

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Reading Time13 min

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INTRODUCTION

THE EARLY YEARS OF CEPARM

Variant transthyretin amyloidosis and disease evolution

Article published online: 2025-06-20 History of Neurology 1 40 years of CEPARM: transforming amyloidosis related to transthyretin from neglect to recognition Marcia Waddington Cruz 1 Marleide da Mota Gomes2,3 1 Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Programade Pós-Graduação em Clínica Médica, Rio de Janeiro RJ, Brazil. 2 Universidade Federal do Rio de Janeiro, Instituto de Neurologia, Rio de Janeiro RJ, Brazil. 3 Universidade Federal do Rio de Janeiro, Instituto de Psiquiatria, Laboratório de História da Psiquiatria, Neurologia e Saúde Mental, Rio de Janeiro RJ, Brazil. Arq. Neuro-Psiquiatr. 2025;83(7):s00451809401 . Address for correspondence Marcia Waddington Cruz ([email: mwaddingtoncruz@gmail.com](email: mwaddingtoncruz@gmail.com)) Abstract Keywords ► Amyloid Neuropathies, Familial ► Prealbumin ► Polyneuropathies ► Cardiomyopathies ► Liver Transplantation ► Drug Therapy Variant transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and cardiomyopathy (ATTRv-CM), formerly known as familial amyloidotic polyneuropathy (FAP), is a severe, progressive disorder caused by mutations in the transthyretin (TTR) gene. Historically, FAP was considered a neglected disease due to its rarity and the limited understanding of its pathophysiology, which led to minimal research funding and few therapeutic options. The present article explores the transformative role of Centro de Paramiloidose Antônio Rodrigues de Mello (CEPARM), established in 1984, in elevating the status of FAP through signiﬁcant advancements in research and treatment. Although CEPARM was not the sole catalyst for this shift, its contributions in liver transplantation, the development of pharmacological therapies, and holistic patient care have substantially improved the recognition and management of FAP. The article also examines CEPARM’s impact on patient care, the ongoing challenges, and ethical considerations within the ﬁeld. INTRODUCTION Familial amyloidotic polyneuropathy (FAP), now more commonly known as variant transthyretin amyloidosis (ATTRv), encompassing polyneuropathy (ATTRv-PN) and cardiomyopathy (ATTRv-CM), is a progressive and life-threatening disorder caused by mutations in the transthyretin (TTR) gene. These mutations result in misfolded TTR proteins that form amyloid deposits, primarily affecting peripheral nerves in ATTRv-PNand the heart in ATTRv-CM. 1,2 Historically, FAP was regarded as a low-prestige disease, largely neglected due to its rarity and the limited understanding of its mechanisms. This lack of recognition led to minimal research funding and scarce treatment options. Hindhede and Larsen’s work4 highlights how disease prestige is shaped by technological and research advancements, received November 19, 2024 received in its ﬁnal form March 18, 2025 accepted April 3, 2025 DOI [https://doi.org/](https://doi.org/)[ ](https://doi.org/)10.1055/s-0045-1809401 . ISSN 0004-282X. Editor-in-Chief: Hélio A. G. Teive. Associate Editor: Eliasz Engelhardt. reﬂecting the challenges FAP faced in gaining attention. However, growing interest from the pharmaceutical industry, coupled with an increased focus on rare diseases, has been pivotal in transforming its status and improving the outcomes.3,4 Variant transthyretin amyloidosis was initially considered a disease conﬁned to endemic foci in Portugal, Japan, and Sweden. However, the presence of late-onset cases in endemic and non-endemic areas has now been recognized, indicating that the disorder is more common than previously thought. 5,6 THE EARLY YEARS OF CEPARM Centro de Paramiloidose Antônio Rodrigues de Mello (CEPARM) was established in 1984 at Hospital Universitário © 2025 . The Author(s) . This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit ([http

FAQs

What disorder does the article focus on?

The article focuses on variant transthyretin amyloidosis (ATTRv), including polyneuropathy (ATTRv-PN) and cardiomyopathy (ATTRv-CM), formerly known as familial amyloidotic polyneuropathy (FAP).

Why was FAP historically considered neglected?

FAP was regarded as neglected because of its rarity and limited understanding of its mechanisms, which resulted in minimal research funding and few treatment options.

How did CEPARM contribute to improving recognition and management?

CEPARM improved recognition and care through advances in liver transplantation, pharmacological therapies, and holistic, multidisciplinary patient care, while also confronting challenges in awareness and resources.

Sep 29, 2026

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