I’ve Been Diagnosed with FAP. Now What?

You have learned that you have familial amyloid polyneuropathy (FAP), a rare, inherited, progressive disorder caused by abnormal deposits of proteins around peripheral nerves and other tissues. Such news can be difficult to comprehend, but here are some suggestions for you to think about following a new diagnosis.

Exhale

Because FAP shares symptoms with other neuropathic disorders — most of which are more common than FAP — it can be a challenge to get an accurate diagnosis. Depending on your family’s medical history, it may have taken you as long as five years to finally receive a diagnosis. Now that you know, and have some time to adjust to the news, you can start to plan.

FAP inheritance

FAP develops as a result of mutations in the TTR gene. Equally common in men and women, the disease is inherited in an autosomal dominant manner, meaning that only one copy of the mutated TTR gene is sufficient to cause the disease. Because the age at which symptoms emerge is usually after 30 and can be as late as 80, some members of your family may unknowingly carry the mutation and should consider undergoing genetic testing.

Genetic testing and counseling

Because risk assessment can be complex, your family should consult a physician with FAP expertise. To provide personalized genetic counseling about the likelihood that someone with a TTR mutation will eventually develop FAP, the physician will need a family health history in addition to a positive genetic test result for TTR mutations. While such testing of healthy individuals can identify mutations, it cannot predict whether they will develop FAP or when.

Early diagnosis by genetic testing can improve life expectancy through early treatment. Patients also may be recommended for clinical trials.

FAP centers in the U.S.

You may considering contacting these sites about genetic testing and counseling:

• Boston University Amyloidosis Center
 Boston, Massachusetts
• Brigham and Women’s Hospital Cardiac Amyloidosis Program
: Boston, Massachusetts
• Cedars-Sinai Hospital MultipleMyeloma and Amyloidosis Program: Los Angeles, California
• Indiana University School of Medicine Amyloid Research Group: Indianapolis, Indiana
• The Mayo Clinic: Rochester, Minnesota
• Memorial Sloan Kettering: New York, New York
• Mount Sinai Hospital: New York, New York
• New York-Presbyterian Multidisciplinary Amyloidosis Program: New York, New York
• Stanford Hospital: Stanford, California

FAP support and advocacy groups

These organizations can provide community support and information following your diagnosis:

• Amyloidosis Foundation
• Amyloidosis Support Community
• Amyloidosis Support Groups
• National Organization for Rare Disorders

Last updated: May 7, 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.