Fast Facts
Quick and informative amyloidosis facts
- Amyloidosis is caused by the abnormal folding of soluble proteins deposited in organs, systems or soft tissues.
- There are more than 120 different mutations in the TTR gene.
- Two types of ATTR amyloidosis are hereditary ATTR amyloidosis (hATTR) and wild-type ATTR (ATTRwt). ATTRwt is not inherited and develops with age, while hATTR is purely an inherited gene.
- Most patients will have symptoms that affect multiple organs, regardless of the amyloidosis type.
- Immunoglobulin light chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis are the types that frequently affect the heart.
- Symptoms of hATTR include neuropathic pain, weakness, cardiomyopathy and gastrointestinal issues.
- Because symptoms of amyloidosis are not always specific and present as other illnesses, it often goes undiagnosed.
- An estimated 40,000 diagnosed cases of hATTR may exist worldwide.
- The risk for developing amyloidosis is not related to stress, diet or lifestyle.
References
- Amyloidosis Research Consortium. Hereditary ATTR Amyloidosis. https://arci.org/about-amyloidosis/hereditary-attr-amyloidosis/. Accessed February 11, 2020.
- Cedars Sinai. Health Conditions: Amyloidosis. https://www.cedars-sinai.edu/Patients/Health-Conditions/Amyloidosis.aspx. Accessed on February 13, 2020.
- Gertz M, et al. Advances in the treatment of hereditary transthyretin amyloidosis: A review; 2019. doi: 10.1002/brb3.1371. Accessed on February 10, 2020.
- Hawkins, P. et al. Evolving landscape in the management of transthyretin amyloidosis; 2015. doi: 10.3109/07853890.2015.1068949. Accessed on February 11, 2020.
- National Organization for Rare Disorders. Rare Disease Database: Amyloidosis. https://rarediseases.org/rare-diseases/amyloidosis/. Accessed February 12, 2020.
- Royal College of Physicians. Martinez-Naharro, A. et al. Cardiac Amyloidosis. 2018.doi: https://doi.org/10.7861/clinmedicine.18-2-s30. Accessed February 13, 2020.
- Serrano, D. et al. Understanding the Disease Course and Therapeutic Benefit of Tafamidis Across Real-World Studies of Hereditary Transthyretin Amyloidosis with Polyneuropathy: A Proof of Concept for Integrative Data Analytic Approaches. 2018. doi: 10.1007/s40120-018-0096-x. Accessed February 10, 2020.