Amyloidosis

What is Amyloidosis?

Amyloidosis is a rare disease that occurs when the body produces a protein called amyloid that can build up in various organs of the body.  Amyloidosis can affect different organs in different people.  Organs affected could include the heart, kidneys, liver, spleen, nervous system and digestive tract.   Severe cases of amyloidosis can be life threatening.

Types of Amyloidosis

There are many types of amyloidosis.  The symptoms, parts of the body affected, and the treatment will vary depending on the type of amyloidosis.   It is therefore extremely important to be tested and diagnosed correctly.

Two types of amyloidosis that MAY include symptoms of peripheral neuropathy are AL Amyloidosis and ATTR (Familiar) Amyloidosis.

Diagnosis of Amyloidosis

Amyloidosis can be difficult to diagnosis without proper testing since the symptoms often mirror other conditions.

For patients with peripheral neuropathy, especially those exhibiting other symptoms such as protein in the urine, stiff or thickening heart (restrictive cardiomyopathy), enlarged liver, or gastric issues as associated with autonomic neuropathy, or any of these symptoms with light-headedness, it may be warranted for the patient to be tested for amyloidosis by their healthcare provider.

If any of these symptoms are present, or there is a family history of peripheral neuropathy without any other known cause, the patient may also be a candidate to be tested for HATTR Amyloidosis.

In some cases, testing for amyloidosis may be offered free of charge to the patients, thanks to programs offered by research and pharmaceutical companies focusing on this condition.

Treatments for Amyloidosis

Working with his or her team of healthcare providers, a patient’s treatment program for amyloidosis will have two focuses.   The first, to manage the symptoms of amyloidosis and second to turn to newly marketed medications that attempt to manage or eliminate the amyloid protein from accumulating in the body.

There currently is no cure for amyloidosis, however several treatment options are now available to manage the symptoms and to limit the production of the amyloid protein.

While tips on the Foundation for Peripheral Neuropathy’s website (www.foundationforpn.org) can help with the early symptoms of peripheral neuropathy, a patient should work closely with his or her healthcare provider to manage the other potential symptoms of amyloidosis

Great progress has been made in the treatment of hATTR amyloidosis with two pharmaceuticals recently approved for this purpose.   Inotersen (manufactured under the trademark Tegsedi  by AKCEA and Ionis Pharmaceuticals and Patisiran (manufactured under the trademark Onpattro by Alynlam Pharmaceuticals) both attempt to reduce the amount of the TTR protein made in the liver- thus reducing the symptoms.

For more information on the two new treatments approved by the FDA in 2018:

https://www.onpattro.com/how-onpattro-works

https://www.hattrguide.com/hattr-amyloidosis-treatment/

For more general information on hATTR Amyloidosis:

https://hattrbridge.com/about-hattr-amyloidosis?gclid=EAIaIQobChMI7PnR3v3a4wIVhp-fCh0IOgJNEAAYAyAAEgLzv_D_BwE&gclsrc=aw.ds

For more general information on Amyloidosis:

www.AmyloidAware.com

https://rarediseases.org/rare-diseases/amyloidosis/

http://amyloidosis.org/

For support groups focusing on Amyloidosis:

www.amyloidosissupport.org

 

 

References:

Amyloidosis Awareness by Amyloidosis Support Group

https://www.mdedge.com/clinicalneurologynews/article/176617/rare-diseases/fda-approves-new-treatment-hereditary

https://www.fda.gov/news-events/press-announcements/fda-approves-first-its-kind-targeted-rna-based-therapy-treat-rare-disease

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