Understanding Amyloidosis

Amyloidosis is a rare disease in itself but it is also a possible complication of some rare autoinflammatory conditions, including TRAPS, FMF, SJIA and HIDS. If your child is affected by any of these conditions, it’s a good idea to learn a bit more about amyloidosis, so you can spot the possible signs and symptoms, and understand how it can be treated.

What is amyloidosis?

Amyloidosis occurs when an abnormal protein called amyloid builds up in an organ. Amyloid can be deposited in any organ but in rare autoinflammatory conditions it usually gathers in the kidneys. When the amyloid proteins build up, they stop the kidneys from working properly and can eventually lead to kidney failure if left untreated.[1]

What are the symptoms?

Symptoms of amyloidosis in the kidney may include:

  • Swelling caused by retaining fluid, which often can be seen in the ankle and legs
  • Tiredness
  • Weakness
  • Loss of appetite[2]

If you notice your child experiencing some of these symptoms, be sure to talk to the doctor.

What causes amyloidosis?

Amyloidosis occurs when abnormal cells in the bone marrow produce abnormal proteins called amyloid. These proteins can enter the blood and travel to the kidneys, or other organs, where they clump together into strings-like structures called fibrils. The body can’t clear these fibrils easily, meaning they build up in the organ and slowly stop it from working properly.[3]

How can amyloidosis affect people with rare autoinflammatory diseases?

Amyloidosis is a rare complication of TRAPS, FMF, SJIA and HIDS. Not much is yet known about the connection between rare autoinflammatory diseases and amyloidosis but there is some evidence that genetics play a role[3]. Research has also shown that a shorter time between disease onset and beginning treatment, is associated with a lower risk of developing amyloidosis in certain rare autoinflammatory conditions.[4]

Further research is needed in order to understand more about the connection between rare autoinflammatory diseases and amyloidosis.

How is it diagnosed?

Blood tests and urine tests can identify high levels of abnormal proteins in the blood or urine and this can help in providing a diagnosis. A final diagnosis requires a biopsy of the kidney, or other affected organ, which means taking a very small sample of organ tissue to analyse under a microscope.[5]

How is it treated?

There are a number of treatment methods available for managing the symptoms of
amyloidosis, such as pain medication and treatment for fluid retention.

Recent advances in diagnosing amyloidosis helps to pinpoint a person’s precise type. This makes it possible to directly treat the cause of someone’s amyloidosis, for example through methods that reduce the production of amyloid thereby reducing the levels of amyloid.[5]

Speak to a doctor or another healthcare professional if you would like to learn more about amyloidosis or if you recognize the symptoms of amyloidosis in your child.

1) Cleveland Clinic. (2018). Periodic Fever Syndrome: Symptoms & Treatments | Cleveland Clinic. [online] Available at: [Accessed 12 Jul. 2018].
2) (2018). Amyloidosis. [online] Available at: [Accessed 12 Jul. 2018].
3) Clementi, A., Cruz, D., Granata, A., Virzi, G. and Battaglia, G. (2013). Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF)and tumour necrosis factor receptor-1 syndrome (TRAPS) genes. Clinical Kidney Journal, 6(6), pp.613-617.
4) Lane, T., Loeffler, J., Rowczenio, D., Gilbertson, J., Bybee, A., Russell, T., Gillmore, J., Wechalekar, A., Hawkins, P. and Lachmann, H. (2013). Brief Report: AA Amyloidosis Complicating the Hereditary Periodic Fever Syndromes. Arthritis & Rheumatism, 65(4), pp.1116-1121.
5) (2018). Amyloidosis - Diagnosis and treatment - Mayo Clinic. [online] Available at: [Accessed 12 Jul. 2018].

Wondering how your life will change?

If you or your child has a rare disease, your life may look a little different than other people’s, and you may face added challenges or worries.  We’ve gathered some information and articles here that may help address a few of these. 

Periodic Fevers

June 2016 - GLDEIM/ACZ885/0075