What is hATTR Amyloidosis?

Hereditary ATTR amyloidosis (hATTR) is an inherited disease (passed down through families) that often affects the nerves, heart and kidneys.1 hATTR amyloidosis is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function.2,3,4 In hereditary amyloidosis, amyloid deposits most often occur in tissues of the nervous system, heart, and digestive tract.1 About 50,000 people worldwide have hATTR amyloidosis.1

TTR amyloid fibrils form when the structure of a normally dissolvable TTR protein misfolds.1
misfolded proteins
The misfolded proteins are sticky and clump together in tissues and between the body’s cells to form amyloid deposits.4
amyloid deposits
Amyloid deposits cause illness by damaging the structure and the function of the organs where they are found. They can affect almost any part of the body including the nerves, heart and GI tract.4

The first symptoms of hATTR amyloidosis typically appear between the mid-20s to the mid-60s, involve multiple tissues and organs and often seem unrelated. Because symptoms may be confused with more common conditions, hATTR amyloidosis can be hard to diagnose.5

To learn more about hATTR amyloidosis, download the pdf What is hATTR Amyloidosis?

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References:
1. Gertz MA. Am J Manag Care. 2017;23(7 suppl):S107-S112 2. Hawkins P et al. Ann Med. 2015; 47:625-638 3. Suhr O et al. J Int Med. 1994;235:479-485 4. Saraiva M. FEBS Letter. 2001;498:201-203 5. Amyloidosis Foundation. Understanding the patient voice in hereditary transthyretin-mediated amyloidosis (ATTR amyloidosis)