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What is amyloidosis?

Amyloidosis is a rare disease where abnormal proteins called amyloid build up in your tissues and organs, which can affect how well they function.  

Amyloidosis may just affect one organ or tissue, or it can affect several including your kidneys, heart, liver, spleen, nerves, and digestive system. Amyloidosis can cause serious organ failure and be life-threatening. 

What causes amyloidosis?

There are several types of amyloidosis which have different causes. The types are named with an ‘A’ for amyloid, followed by an abbreviation of the name of the abnormal protein that accumulates.   

AL amyloidosis: is caused by changes in the bone marrow and plasma cells, which are a type of immune cell. These changes cause the plasma cells to produce lots of an altered protein which accumulates. AL amyloidosis is sometimes linked to a type of bone marrow cancer called multiple myeloma.  

AA amyloidosis: is caused by long-term inflammation, which is the part of the immune response, which happens in conditions like rheumatoid arthritis, Crohn’s disease, or infections like tuberculosis (TB). This inflammation causes an increase in production of an abnormal protein called amyloid A, which can build up in the body.  

Hereditary ATTR amyloidosis: is a rare inherited condition, where genetic changes in blood proteins means they accumulate. The most common protein to cause this condition is a blood protein called transthyretin. 

Wild-type ATTR amyloidosis: is caused by changes to a protein called transthyretin protein which is made by the liver. This condition usually affects older adults, especially men over 75. 

Beta-2 microglobulin amyloidosis: is caused by an accumulation of a protein called beta-2 microglobulin, which is normally filtered from the blood by the kidneys. This condition is associated with long-term dialysis treatment, as dialysis can’t remove enough beta-2 microglobulin, which can accumulate.  

What are the symptoms of amyloidosis?

Symptoms of amyloidosis can include: 

  • Feeling tired or weak 
  • Losing weight without meaning to  
  • Trouble breathing or shortness of breath 
  • Swelling in your feet or legs 
  • Bruising around your eyes 

Depending on the type of amyloidosis you have, its severity, and which body parts are affected you may also have: 

  • Rapid or slow heart rate, or pain in your chest, if your heart is affected. 
  • Feeling or being sick, not feeling hungry, having diarrhoea or constipation if your gut is affected. 
  • Protein in your urine, called proteinuria, if your kidneys are affected  
  • Not being able to feel or having pain or tingling in your hands and feet, if your nerves are affected. 
  • Dizziness.  

Diagnosis of amyloidosis

Amyloidosis can be hard to diagnose because the symptoms are similar to those of other conditions and can be different for each person.  

If your doctor thinks you might have amyloidosis, they will usually refer you to a specialist. 

Tests to help diagnose amyloidosis, and identify the type and body parts affected include: 

  • A biopsy, where a small sample of tissue is taken from the fat around your belly, or from an affected organ, and is checked for amyloid proteins. A biopsy is usually needed to make a diagnosis. 
  • Blood and urine tests. 
  • An ECG and echocardiogram to look at your heart.  
  • A special type of scan, called a SAP (serum amyloid P) scan. This shows where amyloid proteins have built up in your body. 
  • Genetic testing to check if you have a hereditary form of amyloidosis. 

Amyloidosis treatment

Amyloidosis doesn’t have a cure, but some types can be treated to reduce or control the symptoms and any complications.  

Treatments will depend on the type of amyloidosis you have and the severity. If your amyloidosis is caused by another condition this will be treated where possible.  

Other treatments can include: 

  • Medicines to prevent proteins, such as transthyretin, accumulating, or medicines that decrease the production of amyloid proteins  
  • For AL amyloidosis, cancer treatments such as chemotherapy and immunotherapy 
  • Organ transplantation. This can be to replace an organ which has failed due to amyloidosis. In hereditary amyloidosis, you may have a liver transplant to decrease the production of transthyretin, as this protein is produced by the liver.  

What is the prognosis for amyloidosis?

Prognosis will depend on the type of amyloidosis, the severity and which parts of your body are affected. Sometimes symptoms can be reduced or controlled with treatments and complications can be prevented. However, in some cases, amyloidosis causes your organs to stop working properly, with patients whose heart is affected having the worst outcomes. 

References

NHS. Amyloidosis [online]. Nhs.uk, England; Aug 2023 [Accessed 28 April 2026]. Available from: Amyloidosis - NHS  

Bustamante, J. G. and Zaidi, Z. F. H. Amyloidosis. 2023. Treasure Island (FL): StatPearls Publishing. [Accessed 28 April 2026]. Available from: <PMID: 29261990> 

BMJ Best Practice [online]. BMJ, England; Mar 2026 [Accessed 28 April 2026]. Available from: Amyloidosis - Symptoms, diagnosis and treatment | BMJ Best Practice 

Berk, J. L. Amyloidosis [online]. MSD Manual, Merck & Co, Inc., Rahway, NJ, USA; Mar 2026. [Accessed 28 April 2026]. Available from: Amyloidosis - Hematology - MSD Manual Professional Edition 

Berk, J. L. Amyloidosis [online]. MSD Manual, Merck & Co, Inc., Rahway, NJ, USA; Mar 2026. [Accessed 28 April 2026]. Available from: Amyloidosis - Blood Disorders - MSD Manual Consumer Version 

McKechnie, D. Amyloidosis. Patient.info, Navigate Health Ltd: London, UK; Jun 2024 [Accessed 28 April 2026]. Available from: Amyloidosis: Causes, Symptoms, and Treatment | Doctor 

Padrini, R. Canova, C. Conz, P. Mancini, E. Rizzioli, E. and Santoro, A. Convective and adsorptive removal of β2-microglobulin during predilutional and postdilutional hemofiltration. 2005. Kidney International 65(5): p2331-2337. Elsevier Inc.  

NIDDK [online]. NIH, USA; Feb 2022 [Accessed 28 April 2026]. Available from: Amyloidosis & Kidney Disease - NIDDK 

Reviewed June 2026 by Dr Michelle Willicombe

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