For Patients

Amyloidosis is a rare and chronic condition where abnormal proteins stick together to form amyloid deposits. These deposits can build up in different organs of your body, such as your heart, nerves, and kidneys, and cause damage. 

There are two main types of cardiac amyloidosis: Light-chain (AL) and Transthyretin (ATTR). AL is a form of cancer that begins in the bone marrow and mostly affects the heart and kidneys. On the other hand, ATTR is caused by a liver protein that forms amyloid deposits, mostly affecting the heart and nerves. There are two subtypes of ATTR: Hereditary ATTR-CM, which is caused by a change in a person's genes that can be passed down from parent to child, and Wild-type ATTR-CM, which develops for unknown reasons as people get older, often affecting people over 65 years old.

Amyloidosis symptoms vary depending on the type a person has, and which organs are most affected. Symptoms may include: 

• shortness of breath
• chest pain
• fluid retention
• fatigue
• numbness or tingling in feet and/or hands
• muscle weakness
• heart racing
• abdominal discomfort and/or digestive problems
• constipation or diarrhea
• difficulties urinating
• sweating abnormalities
• blurred vision

If you have any of these symptoms it doesn’t necessarily mean that you have Amyloidosis, but it is important to speak with your healthcare provider to determine the underlying cause and receive appropriate care.

Diagnosing amyloidosis can involve a variety of medical tests, depending on which organs are affected and which type a person has. These tests may include blood tests, imaging tests like X-rays or MRIs, nerve function studies, and biopsies of bone marrow, kidneys, heart, fat, or other tissues. Your doctor will work with you to determine the most appropriate tests to diagnose your specific case of amyloidosis.

There is no known cure for amyloidosis, so treatment is focused on managing symptoms. Your treatment plan will depend on the type of amyloidosis you have and which organs are affected. 

Common symptoms such as swelling, nausea, and pain can be managed with medication. For light chain (AL) amyloidosis, treatment typically involves chemotherapy and sometimes stem cell transplant, which will be overseen by a hematologist/oncologist. For transthyretin (ATTR) amyloidosis, there are medications available that can reduce amyloid protein build-up in the heart and/or nerves. The medication prescribed will depend on whether you have hereditary or wildtype ATTR and the specific symptoms you are experiencing.

The following trusted websites are great places to start looking for more information on Amyloidosis:

• Amyloidosis Research Consortium; www.arci.org/ 
• Amyloidosis Alliance; www.amyloidosisalliance.org/
• International Society of Amyloidosis; www.isaamyloidosis.org/ 
• Canadian Organization for Rare Disorders; www.raredisorders.ca/
• World Amyloidosis Day; www.worldamyloidosisday.org/ 

• Transthyretin Amyloidosis Canada – A Canadian ATTR amyloidosis patient support group; www.madhattr.ca/
• Canadian Amyloidosis Support Network – A Canadian AL amyloidosis patient support group; www.thecasn.org/ 
• Amyloidosis Support Groups – An American amyloidosis patient support group; www.amyloidosissupport.org/