If you have hereditary (hATTR) amyloidosis would your routine labs be abnormal?
A: No. If you experience symptoms or are aware of a family history, speak to your healthcare professional—he or she can conduct an evaluation and determine the right plan of action. Because the condition affects different parts of the body, it may be necessary for your healthcare provider to refer you to a specialist who is familiar with hATTR amyloidosis.
Multiple diagnostic tests are available for hATTR amyloidosis. One way to confirm a diagnosis is through genetic testing, which can identify the specific TTR mutation. Biopsies are also used to confirm the presence of TTR amyloid protein and physicians may do additional tests that look at nerve, heart and kidney function. For more information on genetic testing or counseling, visit AlnylamAct.com.
Do interracial relationships cause gene mutations? If not, what causes the gene to mutate?
A: No. Gene mutations are classified into two categories, hereditary and acquired. A hereditary mutation is inherited from a parent, whereas, an acquired mutation occurs at some time during a person’s life. In the case of hereditary ATTR amyloidosis, it is passed down from parent to child in an autosomal dominant fashion.
This means that each child of someone with a TTR gene mutation has a 50 percent chance of inheriting that mutation. However, inheriting the TTR gene with a mutation does not necessarily mean that he or she will develop hATTR amyloidosis. For more information about the hereditary nature of the disease, visit Alnylam’s hATTRbridge.com.
Is there a particular age an individual show signs of hATTR amyloidosis? Also, is it more prominent in African American women or men?
Different symptoms may appear at different times for each individual. The age that initial symptoms appear may vary, ranging from the mid-20s to the mid-60s. Hereditary ATTR amyloidosis occurs both in men and women.
What is it called when there is a lot of numbness in your hand? I think its hereditary because my mom also had carpal tunnel.
A: One potential cause of numbness in your hands is peripheral neuropathy. Symptoms include tingling, numbness, burning pain, loss of sensitivity to temperature or weakness. Peripheral neuropathy as well as carpal tunnel syndrome are some of the more common symptoms associated with hereditary ATTR amyloidosis. For more information about symptoms, visit Alnylam’s hATTRbridge.com and speak to your healthcare provider.
Is hATTR amyloidosis hereditary? Are there early warning signs?
Yes. hATTR amyloidosis is a hereditary disease passed down from parent to child. hATTR amyloidosis affects multiple parts of the body including the nervous, cardiac, and GI systems. Early signs of hATTR amyloidosis include numbness and tingling in the hands and feet, burning pain, dizziness, shortness of breath, and leg swelling. If you have any of these symptoms, speak to your healthcare provider.
If you suspect that you have hATTR amyloidosis, what test do you ask your doctor to give you?
Your healthcare provider may refer you to a specialist based upon your symptoms and order a genetic test to confirm or rule out hereditary ATTR amyloidosis to help determine your chance of developing or passing it on. Alnylam sponsors no-charge third-party genetic testing and counseling for individuals who may carry gene mutations known to be associated with hATTR amyloidosis through the Alnylam Act® program, available in the U.S. and Canada. For more information, visit AlnylamAct.com.
I have been having problems for three months where my fingers go numb and stiff and I don’t have diabetes. Could this be hATTR amyloidosis?
A: One of the manifestations of hereditary ATTR amyloidosis is peripheral neuropathy which can cause tingling and numbness in the hands. To learn more about the symptoms of hereditary ATTR amyloidosis, visit Alnylam’s hATTRbridge.com, or speak with your healthcare provider.
Ella Horton is an Associate Director, Medical Science Liaison at Alnylam Pharmaceuticals, joining the company in 2015. She is responsible for educating and liaising with neuromuscular disease specialists, cardiologists and hematology/oncology providers about hereditary transthyretin (hATTR) amyloidosis and Alnylam’s RNAi platform.
Ella received her BS in Biological Sciences from The University of Southern California and a PharmD degree from the University of Tennessee, College of Pharmacy. She completed her post-doc pharmacy residency at St. Thomas Hospital/Vanderbilt University in Nashville.
