hATTR amyloidosis

hATTR Amyloidosis: African American Community Disproportionately Affected By A Rare, Inherited, Rapidly Progressive Disease

Hereditary ATTR (hATTR) amyloidosis is a rare, genetic condition that affects an estimated 50,000 people worldwide. hATTR amyloidosis is caused by a gene change, or variant, that affects the function of a protein called transthyretin (TTR).  In hATTR amyloidosis, the TTR gene change causes the protein to take on an abnormal shape and misfold, which causes the TTR protein to build up in various parts of the body, including the nerves, heart and digestive system. Symptoms related to the nerves can cause numbness, tingling, and burning pain in hands and feet. Symptoms related to the heart can cause shortness of breath and leg swelling. Digestive symptoms may include diarrhea, severe constipation, nausea, vomiting, and unintentional weight loss. 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. Although anyone can be at risk for this disease, it is more common for people of certain ethnicities, such as those of African (West African: Ghana, Ivory Coast, Nigeria, Sierra Leone, and others) or Afro-Caribbean descent.

There are more than 120 gene variants known to be associated with hATTR amyloidosis. Approximately 1 in 25 (4%) of African Americans have the V122I genetic variant, which is associated with nerve and heart symptoms. As a hereditary disease, hATTR amyloidosis is passed down through family members. If one parent has hATTR amyloidosis, each child will have a 50% chance of inheriting the variant from that parent. However, inheriting the variant does not necessarily mean that they will develop the condition. Despite this family connection, hATTR amyloidosis is often misdiagnosed because its symptoms resemble those of other conditions and can vary widely among people even with the same variant.

Symptoms may worsen over time, so it’s important to talk to your doctor to determine the right plan of action. This may include referring you to a doctor with experience managing patients with hATTR amyloidosis or recommending you work with a genetic counselor. A genetic counselor can help you learn more about the genetic testing process and if a genetic test may be right for you.

Alnylam Act® offers third-party genetic counseling and testing for patients who may have hATTR amyloidosis at no charge to patients, physicians, and payers.

Learn More

You can request to speak with an Alnylam Patient Education Liaison (PEL) who can answer questions you may have about hATTR amyloidosis at www.hATTRPEL.com. You can also access educational resources and information about hATTR amyloidosis at www.hATTRbridge.com.

Please note that a discussion with a PEL should not take the place of any discussions you may have with your doctor. 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. Your doctor may refer you to a physician experienced in managing the disease or to a genetic counselor.

Talk with your doctor about any concerns or symptoms you might be experiencing, and to understand their recommended course of action.

Our hATTR Amyloidosis Doctor Directory can help you find a doctor experienced in managing patients with hATTR amyloidosis in your area.

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