Genetic Testing and ATTR-CM: Everything You Need to Know

Genetic testing is an important part of the diagnosis process for transthyretin cardiac amyloidosis (ATTR-CM). It’s not only key to managing your care but also helps you determine whether others in your family have the condition or are at risk.

Genetic testing can help reduce your risk of such complications, as well as protect your loved ones.

Why Everyone With ATTR-CM Should Be Tested

• Hereditary ATTR-CM runs in families and can cause symptoms around age 30 or later. It leads to amyloid deposits in the heart, nerves, kidneys, and other organs.
• Wild-type ATTR-CM doesn’t run in families and tends to occur in older men. It mostly affects the heart, but it may also cause problems like carpal tunnel syndrome or pain or numbness in the hands or feet.

Why Hereditary ATTR-CM Is Different

There isn’t a cure for ATTR-CM, nor are there treatments to reverse existing amyloid buildup. However, disease-modifying therapies do make it possible to slow the buildup of new amyloid deposits, improving both life expectancy and quality of life in people with hereditary ATTR-CM.

“ATTR-CM is a progressive disorder,” says Dr. Martyn. “The earlier the disease is diagnosed, the better the prognosis, response to therapy, and quality of life patients tend to have.”

• Stabilizer Agents Oral medications like acoramidis (Attruby) and tafamidis (Vyndamax) make it harder for TTR proteins to misfold and create amyloid deposits.
• TTR Silencers Injectable medication vutrisiran (Amvuttra) limits how much TTR the body produces, thereby limiting the production of amyloid deposits.

Hereditary ATTR-CM and Family Risk

If you have a genetic variant of hereditary ATTR-CM but don’t have any signs of the actual condition, you’re considered to be asymptomatic and may develop symptoms later in life. “This person should be followed by their healthcare team with surveillance testing to ensure no symptoms or signs arise in the future,” says James Ampadu, MD, a cardiologist specializing in heart failure with Prisma Health in Columbia, South Carolina.

Does Your Family Need Genetic Testing?

Genetic Counseling: What You Should Know

But the decision to undergo genetic testing can sometimes be stressful. “Genetic testing has implications for the future and can affect family members,” says Quan M. Bui, MD, a cardiologist at UC San Diego Health and assistant professor of medicine at the University of California San Diego School of Medicine.

The Takeaway

• Genetic testing is essential for determining whether a person has the hereditary form of ATTR-CM, which runs in families, or wild type ATTR-CM, which does not, allowing doctors to tailor treatment plans effectively.
• Because ATTR-CM is a progressive disorder with no known cure, early diagnosis with genetic testing allows for the timely use of disease-modifying therapies that help slow protein buildup and improve life expectancy.
• Since first-degree relatives of those with hereditary ATTR-CM have a 50 percent chance of carrying a genetic variant linked to the condition, medical experts recommend that family members undergo testing to identify their risk before severe symptoms develop.
• The testing process is a simple blood or saliva sample that’s often covered by insurance; however, because results can be emotionally difficult to navigate, genetic counselors are available to help families interpret data and plan for long-term monitoring.