If you suspect you may have transthyretin amyloidosis cardiomyopathy (ATTR-CM), your first step will be to contact your primary health care provider.
ATTR-CM is challenging to diagnose because it has nonspecific symptoms that overlap with those of other conditions, and the medical community has a lack of awareness about the disease. Also, until recent years, accurate and easily accessible diagnostic tests were not available.
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.
Delays in diagnosis and treatment can negatively affect your prognosis and daily life, so it’s important to be proactive in seeking a diagnosis.
Read more about ATTR-CM testing and diagnosis
Key information to share with your doctor
If you’ve done your research, and you think you might have ATTR-CM, prepare the following information to share with your doctor.
- A symptom diary: A detailed description of the type of symptoms you’re experiencing, as well as their onset and severity. ATTR-CM symptoms usually resemble those of heart failure, but other symptoms can occur.
- Your medical history: Seemingly unrelated pain can be related to ATTR-CM. Lower back pain can result from spinal stenosis caused by amyloid fibril deposits. Carpal tunnel syndrome may also be an early indicator of ATTR-CM.
- Family medical history: Do you have any family members who have ATTR-CM? Hereditary ATTR-CM is one of two possible subtypes and results from a genetic mutation.
Diagnostic tests to request
ATTR-CM is a rare heart disease, so your primary health care provider may not have experience diagnosing or managing the disease. If that’s the case, it is best to request a referral to a cardiologist.
If you receive a diagnosis of ATTR-CM, you will need a multidisciplinary health care team that may include a cardiologist, a hematologist, a neurologist or a genetic counselor.
If your doctor decides to run some tests to identify the cause of your symptoms, share the following list of tests used to diagnose ATTR-CM.
- Blood and urine tests.
- Echocardiogram.
- Echography,
- Cardiac magnetic resonance imaging.
- Bone scintigraphy.
- Genetic tests.
If any of these tests are inconclusive, a biopsy of the heart, salivary glands or abdominal fat pad may be required to confirm a diagnosis of ATTR-CM.
Questions to ask your specialist following ATTR-CM diagnosis
If your suspicions are confirmed, and you receive a diagnoses ATTR-CM, your specialist will define a personalized approach for you to effectively manage the disease.
You are sure to have questions for your specialist. It’s a good idea to prepare them before your first post-diagnosis appointment.
Here are some questions you might consider asking.
- What subtype of ATTR-CM do I have?
- How do we treat ATTR-CM? What are my medication options? Do I need to make lifestyle changes?
- Are there any possible complications I should be aware of?
- What advice can you give me to live well with ATTR-CM?
- How often will I have appointments with you? Can I contact you outside of appointments if I have questions?
- Will you refer me to other specialists with experience in managing ATTR-CM?
- How will ATTR-CM affect my personal and professional life?
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