Someone in My Family Has FAP; Should I Also Be Tested?

Someone in My Family Has FAP; Should I Also Be Tested?
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You may have a family history of familial amyloid polyneuropathy (FAP) and be wondering if you might also have the disease. To make an informed choice about getting tested, it is important to understand what causes FAP, how the disease is inherited, and what a genetic test entails.

What causes FAP?

FAP is caused by mutations in a gene called TTR. Mutations in this gene cause the TTR protein to misfold. The misfolded proteins aggregate into clumps (also called amyloids), which interfere with cell functions.

How is FAP inherited?

FAP is inherited in a dominant pattern, meaning you may develop the disease if you inherit a single copy of a disease-causing mutation from one of your parents.

If a person with FAP has a child with someone who does not have the disease, their children will have a 1 in 2 chance of inheriting the disease-causing mutation and may develop the disease. If two people with FAP have children together, their children will have a 3 in 4 chance of inheriting one or more copies of a disease-causing mutation and may develop FAP. They will have a 1 in 4 chance of inheriting two healthy copies of the gene and not having FAP.

What is genetic testing?

To carry out a genetic test, your healthcare provider will collect a small amount of blood. They will send this blood sample to an independent laboratory to determine if you have disease-causing mutations in your TTR gene. It is important to note that having a disease-causing mutation does not mean you will definitely develop symptoms of FAP because of a genetic phenomenon called penetrance.

You should discuss your family history of the disease with your primary care physician to determine whether testing is necessary. Based on the results of the test, your doctor may recommend you see a genetic counselor.

When to get tested?

In cases where one of your immediate family members (parents or siblings) has FAP, it is a good idea to undergo genetic testing to determine if you might also have the disease-causing mutation.

If the family member who has the disease is a cousin, it is unlikely you will have inherited the disease-causing mutation. If the relative is an aunt or uncle, your parents may need to be tested, and if their tests are positive for mutations, you also should get tested.

 

Last updated: April 9, 2020

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FAP News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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