AL (Amyloid Light Chain) Amyloidosis is a rare protein misfolding disorder. It is part of a group of diseases characterized by the production of misfolded proteins. A misfolded protein is called a beta-amyloid. These proteins don't break down and they can accumulate and deposit in various organs, tissues, nerves, and other parts of the body, leading to impaired function and organ damage. It is important to note that there are different types of amyloidosis, each with its own specific treatments and considerations. To make even more confusing there are some well known diseases like Parkinson's, Alzheimer's and diabetes that also have an amyloid problem.
Where the amyloid is created and the protein, known as the precursor protein, that misfolds is different in each of the amyloid diseases. Systemic amyloidosis refers to the condition where amyloid clusters are found in multiple areas of the body simultaneously, while localized amyloidosis occurs when the deposits are limited to a specific area.
The three most common types of systemic amyloidosis are:
AL (Amyloid Light Chain) Amyloidosis: In this type, the amyloid protein is derived from abnormal plasma cells in the bone marrow. About 15% of patients with AL amyloidosis will also have the blood cancer multiple myeloma.
AA (Amyloid A) Amyloidosis: This type involves the deposition of amyloid protein derived from the serum amyloid A protein (SAA). It is usually associated with chronic inflammatory diseases, such as rheumatoid arthritis or inflammatory bowel disease.
ATTR (Transthyretin Amyloidosis): Transthyretin (TTR) protein is the source of amyloid in ATTR amyloidosis. It can be hereditary, resulting from genetic mutations, or acquired through the aging process.
More information about the different types of amyloidosis is available on a US based website https://www.amyloidosis.org/facts .
This website is primarily dedicated to AL amyloidosis. Globally AL amyloidosis effects about 10 people per million. This is the incidence of new cases per year. This means that there are about 50 new AL amyloidosis patients diagnosed each year here in New Zealand.
Diagnosing amyloidosis is challenging and early detection is crucial so that patients can receive treatment before their organs are too damaged to handle the side effects of the chemotherapy. Symptoms of AL amyloidosis vary depending on the affected organs, but common signs include fatigue, weight loss, enlarged tongue, heart failure symptoms, heart palpitations, kidney dysfunction, and nerve damage. Blood tests will quickly let your doctor know if your heart or kidneys are damaged and if your free light chains are elevated. Even then the symptoms of AL amyloidosis can look like other diseases, so more tests will be needed. Other diagnostic tests may involve biopsies, imaging studies, more blood tests, and genetic analysis, in order to figure out what type of amyloidosis a patient has.
Treatment options depend on the specific type and severity of amyloidosis. They may include chemotherapy, stem cell transplantation, medications to control underlying conditions, and supportive therapies to manage organ complications. Clinical trials and ongoing research aim to develop novel treatments and improve patient outcomes. Take heart if you have been diagnosed with AL amyloidosis the global revolution in medicines for blood cancers might bring us a cure one day. Something like Car-T cell therapy could be the answer.
Despite being classified as a rare disease by the U.S. Office of Rare Diseases, experts believe that some types of amyloidosis may be under-diagnosed rather than truly rare. We believe the same is true here in New Zealand. Increasing awareness among healthcare professionals and the general public is crucial for early diagnosis and proper management of amyloidosis.
The AL Amyloidosis NZ Support group was created as a resource for reliable information and emotional support for AL amyloidosis patients and their carers. It is also our goal is to raise awareness in the hopes of earlier diagnoses and also to advocate for Pharmac to fund modern medicines that we need..
On this website, you will find detailed information about AL amyloidosis.
If you would like to join our Facebook group the link is www.facebook.com/groups/1632637460543428
We also have online meetings every 6-8 weeks. If you join our Facebook group the information about meetings will be posted there. Or you can send is an email to the address below and we will add you to our email updates list.
For ATTR amyloidosis we recommend the resources provided by the New Zealand Amyloidosis Patient Association (NZAPA).
Please navigate through the different pages on this website. It will evolve over time, so please revisit the site from time to time.
Please send any feedback or additional information that you might have to the email address below.