AMYLOIDOSIS – AN INSIGHT TO DISEASE OF SYSTEMS AND NOVEL THERAPIES Edited by Işil Adadan Güvenç Amyloidosis – An Insight to Disease of Systems and Novel Therapies Edited by I ş il Adadan Güvenç Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2011 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which permits to copy, distribute, transmit, and adapt the work in any medium, so long as the original work is properly cited. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. 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Used under license from Shutterstock.com First published October, 2011 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org Amyloidosis – An Insight to Disease of Systems and Novel Therapies, Edited by I ş il Adadan Güvenç p. cm. ISBN 978-953-307-795-6 Contents Preface IX Part 1 Systemic Amyloidosis 1 Chapter 1 Clinical Presentation of Amyloid A Amyloidosis 3 Nurşen Düzgün Chapter 2 An Overview of the Amyloidosis in Children with Rheumatic Disease 17 Betül Sözeri, Nida Dincel and Sevgi Mir Chapter 3 Intracardiac Thrombosis, Embolism and Anticoagulation Therapy in Patients with Cardiac Amyloidosis – Inspiration from a Case Observation 29 Dali Feng, Kyle Klarich and Jae K. Oh Chapter 4 Cardiovascular Complications in Patients with AL Amyloidosis 53 Maurizio Zangari, Tamara Berno, Fenghuang Zhan, Guido Tricot and Louis Fink Chapter 5 Pulmonary Manifestations of Amyloidosis 63 Mark E. Lund, Priya Bakaya and Jeffrey B. Hoag Chapter 6 Causal or Causal Relationship Between Oral Diseases and Systemic Amyloidosis – From Inflammation to Amyloidosis – A Trouble Connection 77 Murat İnanç Cengiz and Kuddusi Cengiz Chapter 7 Amyloidosis in the Skin 91 Toshiyuki Yamamoto Part 2 Localized Amyloidosis 105 Chapter 8 Localized Amyloidosis of the Head and Neck 107 Işil Adadan Güvenç VI Contents Chapter 9 Localized ENT Amyloidosis – Literature Overview 127 Bouthaina Hammami, Malek Mnejja, Moncef Sellami, Hanene Hadj Taieb, Adel Chakroun, Ilhem Charfeddine and Abdelmonem Ghorbel Chapter 10 Oral Localized Amyloidosis 141 Kenji Yamagata and Hiroki Bukawa Part 3 Novel Aspects in Therapy 153 Chapter 11 Tocilizumab for the Treatment of AA Amyloidosis 155 Toshio Tanaka, Keisuke Hagihara, Yoshihiro Hishitani and Atsushi Ogata Chapter 12 Cardiac and Multi-Organ Transplantation in Patients with Amyloidosis 171 Eugenia Raichlin and Sudhir S. Kushwaha Chapter 13 Autologous Stem Cell Transplantation in the Treatment of Amyloidosis – Can Manipulation of the Autograft Reduce Treatment-Related Toxicity? 185 Çiğdem Akalin Akkök and Øystein Bruserud Preface Amyloidosis is a benign, slowly progressive condition characterized by the presence of extracellular fibrillar proteins in various organs and tissues. It has systemic or localized forms. Systemic amyloidosis can involve multiple organs, and shortens life expectancy, whereas localized amyloidosis usually has a benign course. Both systemic and localized amyloidosis have been a point of interest for many researchers and there have been a growing number of case reports in the literature for the last decade. The aim of this book is to help the reader become familiar with the presentation, diagnosis and treatment modalities of systemic and localized amyloidosis. The first and second sections focus on systemic and localized amyloidosis. Each chapter discusses a specific organ or system and is based on review of the literature in English language. The last section consists of three chapters in which novel therapies of amyloidosis are introduced. I would like to thank all of the authors who have contributed to this book and I believe that this book will provide useful information to physicians and other health professionals practicing in various medical fields. Işıl ADADAN GÜVENÇ, MD Department of Otorhinolarygology Head and Neck Surgery Başkent University Zübeyde Hanım Research and Training Hospital İzmir, Turkey [...]... factor receptor -1 –associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy J Rheumatol 2008; 35(2):357-358 16 Amyloidosis – An Insight to Disease of Systems and Novel Therapies [90] Narvaez J, Hernandez MV, Ruiz JM, Vaquero CG, Juanola X, Nollaa JM Rituximab therapy for AA -Amyloidosis secondary to rheumatoid arthritis Joint Bone Spine 2011;78: 101-103 [91] Dember, LM Modern treatment of amyloidosis: ... laboratory characteristics Ann Rheum Dis 2002;61:4 2–4 7 12 Amyloidosis – An Insight to Disease of Systems and Novel Therapies [24] Kobayashi H, Tada S, Fuchigami T, Okuda Y, Takasugi K, Miyamoto T, et al Secondary amyloidosis in patients with rheumatoid arthritis: diagnostic and prognostic value of gastroduodenal biopsy Br J Rheumatol 1996;35:4 4–4 9 [25] Hazenberg BP, van Rijswijk MH., Clinical and therapeutic... characterised by unprokoved inflammatory episodes without any recognizable pathogens FMF mainly affects people of Mediterranean origin (Sephardic Jews, Turks, Armenians, Araps) Its prevalance is between 1/500-1/1000 and carrier rate is very high in the Eastern 6 Amyloidosis – An Insight to Disease of Systems and Novel Therapies Mediterranean (32) Its a monogenic autoinflammatory disease associated with mutations... diagnosis of amyloidosis and typing are crucial for the patient In practice, specific treatment of the underlying disorder, aiming to suppress the inflammatory activity is the major strategy Treatment options of amyloidosis will be discussed in three main headings: 24 1 2 3 Amyloidosis – An Insight to Disease of Systems and Novel Therapies Reducing the production of amyloidogenic precursor protein (AA and. .. clinical features of the patients with amyloidosis secondary to FMF were as follows: 32% proteinuria, 40% nephrotic 20 Amyloidosis – An Insight to Disease of Systems and Novel Therapies syndrome, and 28% chronic renal failure (24) The patients having glomerular amyloid deposition are more common and have a poorer prognosis than patients having vascular and tubular amyloid deposition in rheumatoid arthritis-related... Turks, Armenians, and Arabs (37) The most seri o u s complication of the disease is the development of AA type amyloidosis, first diagnosed by Mamou and Cattan in 1952 (38) This is due to caused by accumulation of amyloid fibrils in the extracellular spaces of various organs and tissues, most notably the kidneys, liver and spleen, leading to organ failure (39) Several genetic and environmental factors modify... amyloid deposition anywhere in the genitourinary tract The blood pressure may often remain normal It is not clear that development of hypertension in renal amiloidosis whether due to renal involvement or a coincidental finding Persistent nephrotic syndrome 8 Amyloidosis – An Insight to Disease of Systems and Novel Therapies and advanced renal insufficiency and enlarged kidney suggest amyloidosis Occasionally... et al (2004) Systemic amyloidosis: the CT sign of splenic hypoperfusion Amyloid 11:28 1–2 82 26 Amyloidosis – An Insight to Disease of Systems and Novel Therapies [28] Tuglular S, Yalcinkaya F, Paydas S, Oner A, Utas C, Bozfakioglu S et al (2002) A retrospective analysis for aetiology and clinical findings of 287 secondary amyloidosis cases in Turkey Nephrol Dial Transplant 17:200 3–2 005 [29] Sucker C,... Insight to Disease of Systems and Novel Therapies Colchicine is the most effective drug for prevention of acute inflammatory attacks and development of amyloidosis in most patients with FMF Early treatment of amyloidosis is associated with much better prognosis and survival, but even reverse established deposits Colchicine dose of 1.5-2 mg daily is necessary for prevention of the progression of amyloidosis. .. locations, and most of them are not specific Kidney, liver, spleen, heart, intestinal and respiratory tract are the main involved organs or systems in AA amyloidosis (4,19,20,55,60-66) Adrenal and thyroid glands, testes, skin, synovial membrane and bone marrow are other sites of involvement and less common presentations (67-69) Most of clinical symptoms are caused by distortion of the normal tissue . AMYLOIDOSIS – AN INSIGHT TO DISEASE OF SYSTEMS AND NOVEL THERAPIES Edited by Işil Adadan Güvenç Amyloidosis – An Insight to Disease of Systems and Novel Therapies. Amyloidosis – An Insight to Disease of Systems and Novel Therapies 8 and advanced renal insufficiency and enlarged kidney suggest amyloidosis. Occasionally the kidneys are small and scarred Armenians, Araps). Its prevalance is between 1/500-1/1000 and carrier rate is very high in the Eastern Amyloidosis – An Insight to Disease of Systems and Novel Therapies 6 Mediterranean