Amyloidosis is the term for a group of rare diseases in which abnormal proteins deposit as amyloid in tissues and organs.
Amyloid is produced when abnormal proteins in the body “misfold” and collect together in various tissues and organs. As the amyloid builds up, it starts to cause organ damage and impair quality of life.
Thanks to research, we are learning more about the different types of amyloidosis, developing new treatments for them, and raising awareness to help everyone affected by it.
Signs and Symptoms
Signs and symptoms vary depending on the type of the amyloidosis, which organs have been affected and the degree to which function has been impaired. They may also vary from person to person who have the same type of amyloidosis.
Some symptoms are vague or resemble other conditions such as fatigue, weight loss, shortness of breath or loss of appetite.
More specific symptoms are associated with the type of amyloidosis and the affected organs.
ARC CEO Isabelle Lousada talks about her experience as a patient. Leading specialist Dr. Comenzo explains the symptoms and causes of the disease.
Amyloidosis is caused by abnormal proteins that misfold and deposit in various tissues and organs. The abnormal protein involved depends on what type of amyloidosis you have. In ATTR amyloidosis, for example, it is the TTR protein that misfolds and collects into amyloid fibrils.
The life expectancy of an amyloidosis patient can vary significantly. Some factors that may determine longevity are: type of amyloidosis, age at diagnosis, stage of disease (how far along the disease has progressed), which organs are effected, comorbid illness, and more. Your doctor can provide a prognosis based on these factors.
The treatment for amyloidosis varies greatly depending on the type of amyloidosis, since the involved abnormal proteins are different. In TTR amyloidosis, treatment is targeted at either reducing the amount of TTR protein or stabilizing the protein so it doesn’t misfold. In AL amyloidosis, treatment is targeted at the bone marrow, since it is abnormal plasma cells in the marrow that produces the abnormal light chains. Research is being done in all areas of amyloidosis to explore other treatment options, like removing amyloid deposits that have already accumulated. More information on treatments can be found on the type-specific pages.
AL amyloidosis is not a cancer, but is similar to multiple myeloma, which is a bone marrow cancer. Both diseases are plasma cell disorders, and treatments for multiple myeloma have been adapted to treat AL amyloidosis.
There are two types of TTR amyloidosis, wild-type and hereditary. Hereditary TTR amyloidosis, like the name suggests, is a disease caused by a genetic mutation. hATTR is inherited in an autosomal dominant pattern. This means that inheriting only one copy of the mutated gene can cause the condition.
The symptoms of amyloidosis can vary greatly depending on the type, the organs involved, and the stage of disease. Many symptoms of amyloidosis are symptoms also seen in more common conditions, such as heart failure, fatigue, diarrhea and constipation, neuropathy, swelling in the feet and legs, shortness of breath, etc – which is why amyloidosis is so frequently misdiagnosed.
The number of people with all types of amyloidosis is not clear, but the estimated incidence of AL amyloidosis is 12 new cases per million of the population per year, with a prevalence of between 30-45,000 cases. The estimated prevalence of hereditary ATTR is between 5-10,000 people. Wild-Type ATTR amyloidosis is considered to be extremely under-diagnosed, and the real incidence is not known. There are a number of ongoing studies aiming to gain a better understanding of the number of people affected by the disease.
Treatment of Amyloidosis
Until just a few years ago, there were no approved treatments for amyloidosis. Physicians would prescribe other medications “off label,” which means they were designed for another use but have been found to have therapeutic benefit for amyloidosis. Thanks to major developments in research, patients now have options. The treatments vary greatly based on what type of amyloidosis a patient has, so it’s crucial to make sure your type is confirmed before starting any treatment plan.
My Amyloidosis Pathfinder
ARC created My Amyloidosis Pathfinder (MAP) to help you discover, learn about, and contact treatment centers and clinical trials that are right for you. By answering our short questionnaire, MAP is able to match you to centers and trials specific to your condition.