What is Amyloidosis

Amyloidosis is a rare, serious condition that occurs when abnormal proteins, known as amyloid fibrils, build up in your organs and tissues, eventually interfering with their normal function.

How Amyloidosis Affects the Body

When these misfolded proteins deposit in the body, they can affect almost any organ system, including the heart, kidneys, liver, spleen, nervous system, and digestive tract. Because the symptoms of amyloidosis vary depending on which organ is burdened by these deposits, the clinical presentation can be highly diverse. For example, cardiac involvement may lead to heart failure, while renal involvement often causes protein to leak into the urine.

Types and Classification

There are several distinct types of amyloidosis, categorized by the specific protein that misfolds:

• AL (Light Chain) Amyloidosis: The most common form, caused by abnormal plasma cells in the bone marrow.


• ATTR (Transthyretin) Amyloidosis: Can be hereditary (genetic) or wild-type (age-related), affecting the heart and nerves.


• AA Amyloidosis: Secondary to chronic inflammatory conditions like rheumatoid arthritis.


• Dialysis-related (Aβ2M) Amyloidosis: Occurs in patients with long-term kidney failure.

Prevalence and Demographics

The prevalence of amyloidosis is difficult to pinpoint exactly because it is often misdiagnosed or under-diagnosed. Current estimates suggest that AL amyloidosis affects approximately 3,000 to 4,500 people in the United States annually. While it can affect anyone, it is most frequently diagnosed in adults over the age of 50. Men are slightly more likely to be diagnosed with certain forms, such as ATTR, than women.

Understanding the Mechanism

At its core, amyloidosis is a protein-folding disorder. Normally, proteins perform specific functions and are recycled; in this disease, these proteins lose their shape and clump together into stable, insoluble fibrils that the body cannot easily clear. Unlike other protein-related diseases, these deposits physically crowd out healthy cells, causing progressive damage to the architecture of the affected organ.

Medical Disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: The portal for rare diseases and orphan drugs


• Amyloidosis Foundation


• OMIM (Online Mendelian Inheritance in Man)