CeCe was a nurse practitioner at a public health clinic, where she often provided comfort to others when they received difficult diagnoses. Her own diagnosis took several years and a range of doctors, but when she finally received it, her life was changed dramatically.
Her first symptom was carpal tunnel syndrome in both hands, and she often woke up at night with her hands and wrists burning in pain. She went to her primary care doctor, but that was only the beginning. When CeCe began experiencing severe shortness of breath, had difficulty walking short distances, and noticed that her ankles were swollen, she realized that her symptoms had become too much to handle. "From 2005 to 2011, I saw a neurologist, a pulmonologist, a cardiologist, a gastroenterologist, and finally a rheumatologist," CeCe said. "I received multiple misdiagnoses."
She finally learned she'd been suffering from hATTR amyloidosis, a rare, hereditary condition that can progress rapidly. Once CeCe had a diagnosis, she was able to develop a plan with her doctor to help manage the condition.
This Rare Genetic Condition Affects an Estimated 50,000 People Worldwide
hATTR amyloidosis is caused by an inherited gene change (mutation). There are 120 or more gene mutations known to be associated with hATTR amyloidosis. These mutations affect the function of a protein called transthyretin (TTR), a naturally occurring protein that is made primarily in the liver and carries substances such as vitamin A.
In hATTR amyloidosis, a change or mutation in the TTR gene causes the protein to take on an abnormal shape and misfold. This change in shape causes the protein to build up in various parts of the body, including the nerves, heart, and digestive system. The collection of abnormal proteins, also called amyloid deposits, causes the symptoms of hATTR amyloidosis.
hATTR Amyloidosis Can Cause a Range of Symptoms
Symptoms of hATTR amyloidosis can be very different from person to person, even within families, and can affect some parts of the body more than others. Symptoms can be similar to those of other conditions, too. Some symptoms typically seen include:
- Tingling and/or numbness in the hands and feet
- Carpal tunnel syndrome in both hands
- Dizziness upon standing
- Shortness of breath
- Diarrhea or constipation
- Unexplained weight loss
- Nausea and vomiting
- Sexual dysfunction
- Burning pain
- Loss of sensitivity to temperature
This is not a complete list of symptoms that may be experienced in patients with hATTR amyloidosis. Each patient has a different experience, and you may not experience all of these symptoms or you may not experience them at the same time.
See a more detailed list of symptoms at The Bridge®.
A Diagnosis Affects the Whole Family
Because hATTR amyloidosis is passed down through family members, a diagnosis may also affect your children and grandchildren. When one parent has the disease, each child will have a 50% chance of inheriting the genetic mutation that causes the condition. A family member may inherit the TTR gene with a mutation, but that does not necessarily mean they will develop hATTR amyloidosis. Although anyone can be at risk for the disease, it is more common for certain ethnicities, including people of African, Portuguese, Irish, Brazilian, Japanese, and Swedish descent.
Talk to Your Doctor About Genetic Testing
If you experience symptoms or become aware of a family history of the disease, speak to your doctor to find out the right action plan. If your doctor thinks you may be at risk for hATTR amyloidosis, he or she may recommend you work with a genetic counselor and/or receive genetic testing. Genetic testing can help determine whether you carry a genetic mutation associated with hATTR amyloidosis, which may help shorten the time to diagnosis and prevent potential misdiagnosis.
Click here to learn more about how to talk to your doctor about the disease and available genetic testing options.
Learn about the symptoms of hATTR amyloidosis, understand whether genetic testing is right for you, and learn how to talk with your doctor about your condition. A resource that can be helpful is The Bridge®, a program designed to help raise awareness, provide education, and valuable tools for patients, their families, and caregivers.
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