Amyloidosis and Fabry Disease A Clinical Guide

This book presents a multispecialty and multidisciplinary approach on Amyloidosis and Fabry disease. These two “rare” diseases are underdiagnosed and have systemic peculiarities that should be emphasized for diagnosis. In both cases, early diagnosis is important for initiating treatment sooner, achieving better prognosis, and improving patients’ quality of life.

The history of these patients, in general, involves a long journey among health professionals to obtain a diagnosis. Even after a patient is diagnosed, there are still difficulties in understanding these complex diseases, managing complications, and defining specific treatment. Therefore, this work will be a valuable resource for many healthcare professionals, including physicians of various specialties, nurses, physiotherapists, and medical students. It will also be of interest to patients who would like to understand Amyloidosis and Fabry disease.

The content will give healthcare professionals a clinical perspective and provide insights on proper care. Readers will be able to recognize the symptoms related to each disease and will be guided during diagnosis and treatment. Chapters include an overview on clinical course, and will address neurological, ophthalmological, dermatological, gastrointestinal, hematological and cardiology manifestations, orthopedic care, mutations, expressiveness according to epigenetics and multidisciplinary treatment. Chapter authors from around the world will contribute sharing their experience in managing these diseases.

Part I – Amyloidosis

1. Description and Purposes: An Overview

3. Dysautonomy

4. Cardiology Manifestations

5. Syncope, Arrhythmia and Cardiac Devices

6. Urological and Kidney manifestations

8. Gastrointestinal Symptoms

9. Hematological Associations

11. Association of Neoplasms

12. Diagnostic tools

14. Treatment

Part II - Fabry Disease

15. Clinical Course: An Overview

16. Neurological Manifestations

17. Cardiology Manifestations

18. Kidney manifestations

19. Ophthalmological and Dermatological Manifestations

20. Gastrointestinal Symptoms

21. Diagnostic tools

22. Genetics

23. Treatment

Part III – Amyloidosis and Fabry Disease

24. Pathology and Differential Diagnosis

25. Clinical Research

27. Chronic Pain and Quality of Life

Diane Ávila graduated in Medicine at the UNESA, Brazil (2013). Clinical doctor, cardiologist and researcher. She completed her Master's degree in Cardiovascular Sciences at the Fluminense Federal University (Rio de Janeiro, Brazil, 2016). Currently, she is a coinvestigator in the APOLLO B trial, is a coordinator of the amyloidosis center CHN-DASA and a PhD student in heart failure. Dr. Ávila’s research interests include systemic amyloidosis, chronic heart failure, cardiomyopathies, biomarkers, cardiometabolism and COVID-19.

Humberto Villacorta Junior graduated in Medicine at the Federal University of Pará, Brazil (1987). He completed his Master’s degree in Cardiovascular Sciences at the Fluminense Federal University (Rio de Janeiro, Brazil, 1998) and his PhD in Cardiology at the University of São Paulo (São Paulo, Brazil, 2002). He completed his MBA in Health Management at the Fundação Getúlio Vargas in 2015 (Rio de Janeiro, Brazil). He attended a Preceptorship on Heart Failure at Brigham and Women's Hospital, Harvard Medical School (Boston, USA, 2016) and a Preceptorship Program on Heart Failure at the Hospitals San Carlos, Ramón y Cajal and Puerta de Hierro (Madrid, Spain, 2017). A Fellow of the European Society of Cardiology and of the Brazilian Society of Cardiology. He is a Founding Member of the Heart Failure Department of the Brazilian Society of Cardiology (DEIC). He was the President of the Heart Failure Department, Rio de Janeiro Society of Cardiology (2001-2002 biennium) and is currently the Scientific Director since 2016. He is the Editor of the Biomarker Section in the recently launched “Arquivos Brasileiros de Cardiologia, Heart Failure and Cardiomyopathies”. He is a member of the Editorial Board of the journal Arquivos Brasileiros de Cardiologia since 2014 and a member of the group responsible for the Brazilian Heart Failure Guidelines (2005, 2012, 2018, and 2021). Prof. Villacorta has been the leader in the cardiology biomarker field in Brazil. He was the first author to publish on natriuretic peptides in Brazil and gave an outstanding contribution to the introduction of such biomarkers in clinical practice. He has served as coinvestigator in the EVEREST trial and in the registries REPORT-HF and ADHERE Registry in Latin America. He has published over 80 articles in medical journals. Currently, he is an Associate Professor of Cardiology at the Fluminense Federal University, working with undergraduate and graduate courses, in the areas of teaching and research. Prof. Villacorta’s research interests include chronic and acute heart failure, cardiomyopathies, biomarkers, bioelectrical impedance vector analysis (BIVA), cardiorenal syndrome, and COVID-19.