Amyloidosis is a group of diseases characterized by the production of abnormal proteins called amyloid. These proteins 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.
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. It is often associated with multiple myeloma or other plasma cell dyscrasias.
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.
Apart from these, there are other types of amyloidosis as well, which is covered on a US based website https://www.amyloidosis.org/facts .
Diagnosing amyloidosis can be challenging, and early detection is crucial for effective treatment. Symptoms can vary depending on the affected organs, but common signs include fatigue, weight loss, enlarged tongue, heart problems, kidney dysfunction, and nerve damage. Diagnostic tests may involve biopsies, imaging studies, blood tests, and genetic analysis, depending on the suspected type of amyloidosis.
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.
Despite being classified as a rare disease by the U.S. Office of Rare Diseases, experts believe that some types of amyloidosis may be underdiagnosed 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.
Our goal is to raise awareness, provide reliable information, and support individuals and their loved ones affected by amyloidosis.
On this website, you will find detailed information about AL amyloidosis. For ATTR we recommend the resources provided by the New Zealand Amyloidosis Patient Association (NZAPA).
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