Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare, progressive heart muscle disease with potentially fatal outcomes. Increased awareness of early symptoms of ATTR-CM is essential to improving early diagnosis rates.
Once ATTR-CM is diagnosed, timely treatment can help slow disease progression and alleviate the burden of symptoms.
What is ATTR-CM?
ATTR-CM occurs when the transthyretin (TTR) protein produced by the liver is faulty. These abnormal proteins accumulate in the organs, and in particular the heart, causing the heart to thicken and stiffen and impede the pumping of blood to the body.
It can be life-threatening if diagnosed too late for effective treatment, and even with treatment, median survival rates vary from two to six years following diagnosis. There is currently no cure for ATTR-CM.
Early symptoms of ATTR-CM
As ATTR-CM is a rare disease, there may be a lack of awareness of the disease and its symptoms among healthcare providers, making it difficult to diagnose. In addition, common symptoms resemble those of other cardiovascular conditions.
Early symptoms of ATTR-CM include shortness of breath, fluid retention in the legs, ankles and feet, fatigue, dizziness, coughing when lying down, heart palpitations, irregular heart rate, brain fog and a bloated stomach. However, these symptoms are also commonly associated with congestive heart failure and other heart diseases.
If these symptoms remain unresolved following treatment for heart failure, your healthcare provider may then test you for ATTR-CM.
Other symptoms that may indicate the possibility of ATTR-CM include carpal tunnel syndrome, eye floaters, peripheral neuropathy, digestive issues and unexplained weight loss. Amyloid deposits can also occur in other parts of the body such as the spine, leading to spinal stenosis.
Diagnosing ATTR-CM
If ATTR-CM is suspected, your healthcare provider will order a series of diagnostic tests. These may include a blood test, imaging such as an echocardiogram (ECG), magnetic resonance imaging (MRI), or positron emission tomography (PET) scan, a bone scan and a tissue biopsy of the heart.
Genetic testing will also determine the disease type: wild-type ATTR-CM (wATTR-CM) or hereditary ATTR-CM (hATTR-CM).
Support following diagnosis
ATTR-CM is a rare heart disease that is not widely known. Following diagnosis, you may notice a lack of readily available information.
Still, it is important to seek out support from others living with ATTR-CM to help you understand the implications of your diagnosis. A good place to start is the American Heart Association support group, where you can connect with people in a similar situation who can advise and encourage you and your loved ones on how best to manage the next steps.
