How genetic testing may help to identify your risk for a rare disease, Hereditary ATTR Amyloidosis


Posted: March 21, 2019 | Word Count: 438

There is no doubt that interest in genetics has exploded in recent years. In fact, genealogy has grown dramatically to become the second most popular hobby in the United States and the second-most popular internet surfing topic.

At the same time, advances in our understanding of genetics are broadening our understanding of the role genes play in our overall health and the development of many diseases. This is especially significant for people with inherited conditions, such as hereditary transthyretin-mediated (hATTR) amyloidosis. Affecting approximately 50,000 people worldwide, hATTR amyloidosis is a life-threatening disease that can impact multiple parts of the body, including the nerves, heart and digestive system.

hATTR amyloidosis is passed down from parent to child in an autosomal dominant fashion, meaning a person only needs to inherit one copy of the affected gene from one parent in order to develop the condition. However, inheriting the TTR gene with a mutation does not necessarily mean that you will develop hATTR amyloidosis. Despite its prevalence across generations and the appearance of symptoms, some families may be unaware of their family history or that they are at risk for the condition.

Symptoms of hATTR amyloidosis can vary widely from person to person, but often include weakness, numbness and tingling in the hands and feet, burning pain, dizziness, shortness of breath and digestive issues. Misdiagnosis is common with hATTR amyloidosis because the symptoms can resemble those of other more common conditions including carpal tunnel syndrome, diabetic neuropathy and hypertensive heart disease.

This is where genetic testing can help.

“Making the decision to undergo genetic testing for serious conditions like hATTR amyloidosis is not easy, especially when it can have implications for your entire family,” said Emily Brown, a genetic counselor. “Knowing you are at risk can allow you to recognize symptoms faster, avoid misdiagnoses and identify a path forward with your doctor.”

Genetic counselors can also help to familiarize you with the process of genetic testing and provide support due to the potential implications if you test positive.

There are other resources available. Companies like Alnylam Pharmaceuticals have made genetic testing and counseling options available to help people make informed decisions about their health. Through Alnylam Act(R), Alnylam sponsors third-party genetic testing and counseling for individuals who may be carrying a gene mutation known to be associated with hATTR amyloidosis at no charge. For more information about the program, visit AlnylamAct.com.

Further, if you or someone in your family experience symptoms consistent with those of hATTR amyloidosis, talk to your doctor and visit Alnylam’s hATTRBridge.com for more information and additional resources.

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