What is ATTR-CM?
Transthyretin cardiac amyloidosis is a disease of the heart muscle. It is caused by the buildup of abnormal proteins (amyloid) in the heart walls.
ATTR-CM reduces the heart’s ability to pump blood properly. This can cause heart failure.
There are two types of ATTR-CM:
ATTR-CM Cenyl
Caused by the natural aging process
May affect the heart and nervous system
More common in men
Although the majority of people with this diagnosis are men, ATTR-CM is underdiagnosed in women.
ATTR-CM genetics
Family-oriented
It is caused by changes in genes.
It may affect the heart, nervous system, kidneys, and other organs.
Risk factors include:
Family history of heart disease or ATTR-CM
old age
Black or Afro-Caribbean descent
About 1 in 25 black Americans carry the V122I gene, which increases the risk of hereditary ATTR-CM.
Symptoms of ATTR-CM
There may be no or mild symptoms at first, especially in geriatric ATTR-CM.
Symptoms may resemble those of other disorders, such as menopause, or may seem unrelated to heart disease.
People with ATTR-CM may experience:
shortness of breath
swelling of the legs
Gastrointestinal problems, such as gas in the stomach
Irregular or rapid barking
fatigue
If left untreated, ATTR-CM can require hospital visits, cause complex heart problems, and shorten lifespan.
Nerves may also be affected. Protein buildup in the nervous system can cause complications, including:
carpal tunnel syndrome
Numbness or tingling in your hands and feet
neuropathic pain
Spinal stenosis (back pain caused by spinal stenosis)
How is ATTR-CM diagnosed?
In addition to your symptoms, your health care provider may use diagnostic imaging to determine if further testing is needed.
Genetic testing can then be done to determine if the disorder is hereditary.
ATTR-CM may affect more than 400,000 patients worldwide. However, many people live with this disorder undiagnosed, especially women.
What causes ATTR-CM?
A protein called transthyretin (TTR) is produced in the liver and performs many important functions, including transport:
Thyroid hormones (necessary to regulate metabolism for functioning health and well-being)
Vitamin A (eye health)
ATTR-CM occurs when TTR becomes unstable, breaks, and misfolds.
How is ATTR-CM treated?
ATTR-CM is not curable, but treatment can help prevent the disease from getting worse and relieve symptoms.
Types of treatment include:
TTR silencer
It may reduce the amount of TTR in your body.
TTR stabilizer
It can increase the amount of TTR in your body.
Measuring TTR levels can give your healthcare provider an idea of how effective your treatment is.
Lifestyle changes are important when living with ATTR-CM.
Eat a Heart-Healthy Diet
Monitor your sodium intake
If possible, walk and exercise every day.
alcohol restrictions
Wondering if you have ATTR-CM or if you are at risk for it?
Talk to your health care provider about treatment options so that together you can decide what is best for you. Early diagnosis and treatment may help slow the progression of ATTR-CM and lead to improved clinical outcomes.
This training material was prepared in partnership with BlackDoctor and with support from BridgeBio.
