Amyloidosis refers to a group of diseases characterized by a build-up of abnormal proteins, known as amyloid fibers. These protein fibers attach and deposit into organs, impacting normal function and causing damage. There are approximately 30 different types of amyloidosis identified today. These range in severity, as well as etiology. Some are considered genetic while others are acquired.
Amyloidosis symptoms initially are generalized, including:
- Sudden Weight Loss
- Severe Fatigue
- Bleeding or Easy Bruising
- Numbness & Tingling in legs
- Splenic Enlargement
- Tongue Enlargement
- Leg Swelling
- Changes in Skin Color
- Anemia
- Joint Pain
- Severe Weakness
The early signs and symptoms of amyloidosis are typically non-specific and generalized constitutional in nature. The differing types of amyloidosis determine what organs are impacted to the greatest degree. Statistically, cardiac, renal, gastrointestinal, and neurological deposits are the most common making corresponding amyloidosis symptoms in these organs most common.
Diagnosis can only be made by a physician and may require specialized testing. While abnormal proteins can be detected in blood and urine tests, a physician will confirm the diagnosis via a tissue biopsy. Biopsy results will also clarify the specific type of amyloidosis involved. If a hereditary type of amyloidosis is suspected, a genetic test may be performed, as treatment for genetic amyloidosis is different than other types of the disease.
Risk Factors For Amyloidosis:
Amyloidosis is more common in men than women and risk increases with age. Classified as a rare disease by the U.S. Office of Rare Diseases, all the different classifications of amyloidosis combined impact less than 200,000 people in the United States. Some experts believe amyloidosis is not rare, just rarely diagnosed. A limitation in quantifying cases of amyloidosis is the lack of early diagnosis.
Certain chronic health conditions are associated with the disease, including Multiple Myeloma and End-stage Renal Disease that is dependent on dialysis. Genetic forms of amyloidosis are typically discovered when a cluster of similar symptoms present within a family structure. Early diagnosis is key with all cases of amyloidosis, as early intervention is associated with the best outcomes.
Treatments for Amyloidosis:
Amyloidosis treatments vary based upon the type of amyloidosis present as well as the severity of the organs impacted. There is typically a two-pronged approach to amyloidosis treatment: Supportive Treatment, which treats symptoms and organ damage, and Source Treatment, which is geared towards slowing damage or reducing the overproduction of amyloid.
Treatments for amyloidosis are highly varied. Chemotherapy and stem cell transplantation is a viable option for some Stage I and II cases, and offers an optimal outcome. A mainstay treatment consists of chemotherapy coupled with corticosteroid therapy. Renal function preserving medications and neuropathy treating medications are often utilized in organ-specific treatments. Finally, in some cases, organ transplantation, such as liver, is effective at reducing or stopping amyloid deposits. With all cases of amyloidosis, achieving reversal of organ damage is extremely difficult to achieve. Imperative to success is early detection and treatment.
The rarity and severity of the amyloidosis diseases emphasizes the need for continued research. Through allocation of research dollars, knowledge will improve future treatment options.