Understanding Transthyretin Amyloid Cardiomyopathy
Keeping our hearts healthy is extremely important. After all, for every second of our lives, our heart is responsible for keeping blood flowing through our bodies, which helps power all our other organs and overall bodily functions.
But for those suffering from Transthyretin Amyloid Cardiomyopathy (ATTR-CM), the function of the heart can become impaired. If left undiagnosed or untreated, this condition can turn fatal. It thickens the walls of the heart and halts its ability to properly pump blood.
What is Transthyretin Amyloid Cardiomyopathy?
If this is the first time you’re hearing of ATTR-CM, you’re not alone. Sadly, the knowledge of this type of heart disease remains quite low. Due to this lack of knowledge, in part, many patients suffering from ATTR-CM are wrongly diagnosed with other cardiovascular or blood pressure issues, or even worse, not diagnosed at all.
To put it simply, ATTR-CM is a heart condition that can prove fatal due to a malfunction in transthyretin, a transport protein, creating a buildup in the heart that ultimately leads to stiffening and total heart failure.
With any type of cardiomyopathy, the heart’s normal function is hindered, meaning it’s unable to fill with blood or pump it out to the body. This then causes a back-up of blood.
In this specific type of cardiomyopathy, this occurs because the transthyretin proteins clump, fold up on themselves, and create deposits that can linger throughout the body, like in the tissue of the heart.
Symptoms of Transthyretin Amyloid Cardiomyopathy
There are two primary types of ATTR-CM, so depending on the type, the risk factors and symptoms may vary. There is a hereditary version of ATTR-CM as well as a non-hereditary type of the disease, known as wild-type ATTR-CM.
Here are some general symptoms to be on the lookout for that are associated with both types of ATTR-CM. Below, read the specific risk factors and symptoms associated with each of the two types, both hereditary ATTR-CM and wild-type.
In general, symptoms of ATTR-CM include the following:
- Shortness of breath: the tell-tale symptom of any type of ATTR-CM, which may be especially noticeable in situations where there is minimal exertion and no reason for shortness of breath, such as when lying down
- Abdominal bloating
- Foggy headedness, confusion, muddled thoughts
- Coughing or wheezing, also when either lying down or not exerting oneself
- Disruptions to normal heart rhythms, palpitations
- Sped up heart rate
- Glaucoma or other ocular issues
- Fatigue and muscle weakness or even ripping of bicep tendons
In the case of hereditary ATTR-CM, symptoms like the above may emerge in patients as young as 20, or may not crop up until later in life (like with the non-hereditary ATTR-CM, potentially as late as in your 80s).
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Hereditary ATTR-CM can happen to anyone with the genetic mutation in the transthyretin gene (the transthyretin is a protein responsible for the transport of thyroid hormone and vitamin A to areas of the body.) However, this type is more likely to occur in people in Portugal, Japan, or Sweden, or sometimes in those of Irish descent (the gene mutation is more common in all these ethnicities).
African Americans are another population far more likely to develop hereditary ATTR-CM. With hereditary style ATTR-CM, symptoms may never even show themselves.
If the ATTR-CM is the second type, known as wild ATTR-CM, it’s unrelated to genetics or a genetic mutation in the transthyretin. Patients almost always develop the symptoms later in life. This type ATTR-CM affects men more often. It’s also thought to be the more common type of the two. In addition to the telltale shortness of breath, coughing, and other symptoms, this type of ATTR-CM often comes along with numbness in the hands and feet, and potentially carpal tunnel syndrome as well.
When left untreated, ATTR-CM is fatal. Since it is traditionally underdiagnosed, be on the lookout for any of these symptoms even if you don’t suspect they’re linked. It’s always better to be safe than sorry, and your doctor can take a closer look and see if they’re indeed symptoms of ATTR-CM.
How To Get a Diagnosis
If you suspect you may be suffering from ATTR-CM, your doctor will ask you about your symptoms and also run a series of cardiac tests, such as an electrocardiogram or ECG.
Additional tests may be required, such as an MRI of the heart, to get a better look at the inner workings, speed and flow of blood, and allow for a more detailed look at the heart.
Blood and urine tests may follow, to rule out other potential heart issues. Next, further imaging and/or a biopsy may be done, in addition to possible genetic testing.
If it’s determined that you have ATTR-CM, depending on when in the progression it’s caught and the type you have, your doctor may give you one of the approved medicines designed specifically for ATTR-CM. There are ways to alleviate minor symptoms like taking diuretics for the swelling caused by ATTR-CM.
In some patients in more advanced cases, a heart or liver transplant, or both, may be advised.
ATTR-CM is a serious and potentially life-threatening disease, but also treatable in many cases. If you experience any of the above symptoms or have any hunch you may have it, book an appointment with your doctor right away.