hATTR amyloidosis – could you be at risk?
ABOUT hATTR AMYLOIDOSIS
Hereditary transthyretin (hATTR) amyloidosis is a serious but treatable condition and you could be at risk. While it is a rare disease, one of the mutations that causes hATTR amyloidosis may affect 3 to 4% of African-Americans in North America. Misdiagnosis of hATTR amyloidosis is common and it can often take patients several years from symptom onset to get the right diagnosis and start treatment. It is important to advocate for your health by looking out for the signs and symptoms of this rare disease. Determining if you are at risk with your doctor can help speed up the diagnostic process.
WHO IS AT RISK?
When it comes to rare diseases such as hATTR amyloidosis, certain populations are more at risk of having it than others because of a phenomenon called the founder effect. One of the founder populations of one of the mutations that causes hATTR amyloidosis can be traced back to West Africa. For this reason, in North America, individuals of African-Caribbean descent, including those from the islands of Haiti, Jamaica and Bermuda, are those that are at a higher risk of carrying this mutation, and thus, of having this rare disease. Since hATTR amyloidosis is a genetic disease that is passed down through family members, it is important to go back to your roots and learn about your family history.
If you have symptoms of hATTR amyloidosis or if it runs in your family, genetic testing is a crucial step in getting correctly diagnosed.