Overview of Amyloidosis
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.
3D animated overview of amyloidosis.
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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.
Amyloidosis can be:
- Acquired/non-hereditary: meaning that it is developed during a person’s lifetime due to unknown reasons. Increasing age is an important factor in some types.
- Hereditary: meaning that it is developed as a result of a genetic mutation passed on within families.
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.
Different tests and investigations are used depending on the type of amyloidosis that is suspected. Genetic testing is carried out if a hereditary type is suspected. Testing generally involves:
- Blood and urine tests
- Imaging tests
- Tissue biopsy
- Tests for amyloid type
- Tests for organ involvement
Treatment varies depending on the type of amyloidosis. A number of new treatments are currently under investigation for different types of amyloidosis. Clinicals trials are therefore a useful treatment option for patients.
The overall aim of treatment, regardless of type, is to:
- Slow down or halt the production of the misfolded protein
- Stabilize the protein
- Remove the amyloid deposits
- Reduce symptoms by preserving and supporting affected organ function
- Improve quality of life
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