AMYLOIDOSIS A guide for patients and families 1800 620 420 leukaemia.org.au Contents Acknowledgements 4 Introduction 5 The Leukaemia Foundation 6 What is amyloidosis? 10 What are the different types of amyloidosis? 11 Organ involvement 12 What are the symptoms of amyloidosis? 13 Who is at risk of developing amyloidosis? 13 How common is amyloidosis? 14 How is amyloidosis diagnosed? 14 Can amyloidosis be treated? 15 AL amyloidosis 16 AA amyloidosis 38 Hereditary amyloidosis 40 ATTRm 42 Localised AL amyloidosis 44 Wild-type transthyretin amyloidosis (ATTRwt) (also known as senile systemic amyloidosis) 45 What is a clinical trial? 48 Taking care of yourself 50 How can I understand my illness and treatment a little better? 51 What will we tell the children and grandchildren? 54 Useful information sources 55 Glossary of terms 57 Acknowledgements The Leukaemia Foundation gratefully acknowledges the following groups and people who have assisted in the development and revision of the information in this booklet: people who have experienced amyloidosis as a patient or carer, Leukaemia Foundation support staff, haematology nursing staff, clinical haematologists, cardiologists, allied health 4 professionals, Mrs Pat Neely (who also researched and developed the original Understanding Amyloidosis booklet, published in 2010), Dr Simon Gibbs, and Dr Peter Mollee. The Leukaemia Foundation values feedback from people affected by amyloidosis and the healthcare professionals working with them. If you would like to make suggestions, or tell us about your experience of using this booklet, please contact us at [email protected]. July 2017 The first part of this booklet gives a very Introduction general overview of amyloidosis, including the symptoms, diagnosis and This booklet has been written treatment. The sections following this discuss the main types of amyloidosis in to help you and your family more detail. Every section may not apply understand more about to you. It may be useful to look at the list of amyloidosis. contents and read the sections you feel most useful at the time. A diagnosis of amyloidosis may leave many of you feeling shocked, anxious, and In some parts of the booklet we have confused. That is quite understandable as provided additional information you may you will probably have never heard of wish to read on selected topics. Some of amyloidosis before and you will find that you may require more information than is most people you talk with have not heard contained in this booklet, so we have of it either. included some internet addresses that 5 you might find useful. In addition, many A great deal of information can be found of you will receive written information on the internet but some of this may be from the doctors and nurses at your confusing and difficult to understand, treating hospital. and much of it may not apply to your situation. It is hoped that this booklet It is not the intention of this booklet to will help you begin to understand your recommend any particular form of disease a little better. treatment to you. You need to discuss your particular circumstances at all times Please remember the information in this with your treating doctor and team. booklet is written in very general terms. Your disease is unique to you. The We hope you find this booklet useful in treatment you will be offered will be providing support and information. We decided only after your doctors make a would appreciate any feedback from you definite diagnosis on the type of so we can continue to help you and your amyloidosis you have and fully assess family in the future. your disease status. This booklet is written to supplement any information given to you by your doctors and the rest of your treatment team. The Leukaemia Foundation The Leukaemia Foundation Our transport service helps thousands get to and from medical appointments, is the only national charity driving more than one million kilometres dedicated to helping those each year to ensure people get the with leukaemia, lymphoma, medicines they need to beat their myeloma, amyloidosis and blood cancer. related blood disorders survive The Leukaemia Foundation also and then live a better quality provides counselling, comprehensive information, education and support of life. 6 programs and financial assistance to It exists only because of the help the 60,000 Australians who are generous and ongoing support of currently living with a blood cancer. the Australian community. The Leukaemia Foundation also funds Each year, the Leukaemia Foundation researchers who are working tirelessly helps more than 750 families from to discover safer and more effective regional and rural Australia by providing treatments that will save lives and help free accommodation in our capital cities people lead a better quality of life. so they can access life-saving treatment Supporters ensure the Leukaemia at major hospitals. Foundation can continue to give those impacted by blood cancer a strong voice, advocating for change and ensuring all Australians who need them have easy access to the very best blood cancer treatments. Leukaemia Foundation staff are health professionals who provide people affected by amyloidosis and their families with information and support. Support Services Emotional support The Leukaemia Foundation has a team A diagnosis of amyloidosis can have of highly trained and caring support a dramatic impact on a person’s life. staff with qualifications and experience At times it can be difficult to cope with in nursing or allied health who work the emotional stress involved. The across the country. Leukaemia Foundation’s support staff can provide you and your family with We can offer individual support and much needed support during this time. care to you and your family when it Blood Buddies is needed. This is a program for people newly Support Services may include: diagnosed with amyloidosis to be 7 introduced to a trained ‘Buddy’ who Information has been living with amyloidosis for The Leukaemia Foundation has a range at least two years, to share their of booklets, DVDs, fact sheets and experience, their learning, and to other resources that are available free provide some support. of charge. These can be ordered via the form at the back of this booklet or Telephone discussion forums downloaded from leukaemia.org.au. This service enables anyone throughout Education and support programs Australia who has or has been affected by amyloidosis to share their The Leukaemia Foundation offers you experiences, provide tips, and receive you and your family both amyloidosis- education and support in a relaxed specific and general education and forum. Each discussion is facilitated by a support programs throughout Australia. member of the Leukaemia Foundation These programs are designed to support team who is a trained empower you with information about health professional. various aspects of diagnosis and treatment and how to support your general health and wellbeing. Accommodation Amyloidosis Network Group (private Some people need to relocate for Facebook group) treatment and may need help with This is a private group for people accommodation. The Leukaemia affected by amyloidosis to connect Foundation’s staff can help you to find and share their personal experiences. suitable accommodation close to your You can join this closed group at hospital or treatment centre. In many facebook.com/groups/AMYLFA. This areas, the Leukaemia Foundation’s fully group is a great place to share furnished self-contained units and experiences, information, and stay houses can provide a ‘home away from up-to-date on research news. home’ for you and your family. Practical assistance 8 Transport The urgency and lengthy duration of The Leukaemia Foundation also medical treatment can affect everyday assists with transporting people to life for you and your family and there may and from hospital for treatment. be practical things the Leukaemia Courtesy cars and other services are Foundation can do to help. In special available in many areas throughout circumstances, the Leukaemia the country. Foundation provides financial support for patients who are experiencing financial difficulties or hardships as a result of their illness or its treatment. This assistance is assessed on an individual basis. Meeting other patients at the Leukaemia Foundation’s support groups really helped me to understand a little better. I was very grateful for the Leukaemia Foundation’s support during and after my treatment. Advocacy The Leukaemia Foundation is a source of support for you as you navigate the health system. While we do not provide treatment recommendations, we can support you while you weigh up your options. We may also provide information on other options such as special drug access programs, and available clinical trials. Contacting us 9 The Leukaemia Foundation provides free services and support across Australia. Every person’s experience of living with amyloidosis is different. It’s not always easy, but you don’t have to do it alone. Please call 1800 620 420 to speak to a support staff member or to find out more about the services the Leukaemia Foundation offers. Alternatively, contact us via email by sending a message to [email protected] or visit leukaemia.org.au. What is amyloidosis? Amyloidosis is the general term Amyloidosis can be acquired (not a given to a relatively rare group condition you are born with but something that develops over time) or of disorders in which an hereditary (occurs due to a faulty gene abnormal protein known as and is passed down through the family). amyloid is deposited in the It can be localised (amyloid protein tissues and organs of the body. produced and deposited only in one small area of the body), or systemic Amyloid is formed when certain proteins (amyloid protein circulates in the blood 10 fold in an abnormal way to form fibrils, and deposits in one or several organs of which have a unique chemical structure.