Cases of transthyretin amyloid cardiomyopathy (ATTR-CM) can be misdiagnosed or undiagnosed because of lack of awareness and understanding of the rare disease of the heart.
Early detection is important for symptom and disease management. Delays in diagnosing ATTR-CM can lead to disease progression, negative effects on quality of life and poorer prognosis.
What is ATTR-CM?
Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is a rare progressive disease of the heart muscle that leads to congestive heart failure. It occurs when the transthyretin protein produced by the liver is unstable. Symptoms include fatigue; shortness of breath; irregular heart rate or palpitations; swelling of the legs, ankles and stomach; brain fog; wheezing; and dizziness. It often goes underdiagnosed because of a lack of awareness and knowledge of the disease. There is currently no cure for ATTR-CM.
More education around ATTR-CM and the sharing of professional experience in the medical community can help reduce the time it takes to reach an accurate diagnosis.
Difficulties in diagnosing ATTR-CM
ATTR-CM is a rare disease. About 120,000 people live with it in the United States, and 5,000 to 7,000 new cases are diagnosed each year. This means that health care professionals often have limited experience with or knowledge of the disease.
Read more about ATTR-CM testing and diagnosis
As a result, patients are often misdiagnosed with other diseases, such as aortic stenosis, a variety of cardiomyopathies, heart failure with preserved ejection fraction, hypertensive heart disease and ischemic heart disease.
Overlapping symptoms delay correct diagnosis
The main difficulty in diagnosing ATTR-CM is that it shares a range of symptoms with other heart diseases caused by high blood pressure.
ATTR-CM symptoms include fatigue; shortness of breath; coughing or wheezing; swelling in the legs, ankles or abdomen; increased heart rate; palpitations; and confusion or brain fog.
In the early stages, ATTR-CM symptoms can be mild or easily confused with those of other heart diseases. As the disease progress, the symptom burden becomes heavier, with possible numbness or tingling in the hands and feet, carpal tunnel syndrome or spinal stenosis.
There are two subtypes of ATTR-CM: wild-type ATTR-CM (wATTR-CM) and hereditary ATTR-CM (hATTR-CM). There are some differences between the subtypes in terms of symptoms, the effect of the disease on daily life and life expectancy. The wATTR-CM subtype accounts for about 90% of cases; it’s found in older men and is often associated with aging.
With greater awareness of ATTR-CM, health care professionals can be better prepared to order the right diagnostic tests and ask patients the correct questions about symptoms and family history.
The benefits of early detection
There is no cure for ATTR-CM, but early diagnosis means that treatment can start immediately to alleviate symptoms and slow disease progression. This will help patients live better with their disease and will contribute to a better prognosis.
A quick, accurate diagnosis also allows for the person living with ATTR-CM to feel the relief of receiving a diagnosis. He or she can then rely on the support of a cardiologist, who will define a treatment protocol, advise on disease management, follow up regularly and also share any new therapies or innovations.
