Patients with transthyretin amyloid cardiomyopathy (ATTR-CM) who hop online to research the disease won’t need to read for long before they find an alphabet soup of terms and abbreviations. In addition to being known by a few different names, ATTR-CM falls under several different disease categories and has multiple subtypes — and just like ATTR-CM, these all have multiple names, too. Understanding the most common terms will help make deciphering disease information a little easier.
Other names and abbreviations for ATTR-CM
Though ATTR-CM is the most common term, you may also see the disease referred to as:
- Cardiac transthyretin amyloidosis
- Transthyretin cardiac amyloidosis
- ATTR-CA
- TTR-CM
Broader categories ATTR-CM falls under
ATTR-CM falls under a few overlapping disease categories. The main ones are:
Amyloidosis: A collection of diseases where abnormal amyloid protein deposits build up in the organs. This is sometimes shortened to Amy.
Transthyretin amyloidosis (ATTR): In ATTR, a protein called transthyretin (TTR) misfolds, forming clumps that build up in different areas of the body. In addition to ATTR-CM, there is another form of ATTR called transthyretin amyloid polyneuropathy (ATTR-PN). ATTR-PN affects the peripheral nervous system, rather than the heart. Some patients can develop both the hereditary form of ATTR-CM and ATTR-PN, referred to as a mixed phenotype.
Cardiac amyloidosis (CA): Amyloidosis that affects the heart. This is also sometimes referred to as amyloid heart disease. Cardiac amyloidosis includes both ATTR-CM and light chain amyloidosis (AL), also called primary amyloidosis, which is caused by a different protein misfolding than in ATTR-CM.
Read more about ATTR-CM signs and symptoms
Subtypes of ATTR-CM
There are two subtypes of ATTR-CM. When you are diagnosed, you will undergo genetic testing to determine which subtype you have. They affect different populations, have different symptoms and varying prognoses. You will also find that the two forms have many different names and abbreviations.
Wild-type ATTR-CM: This is the form of ATTR-CM associated with ageing, not with a genetic mutation. It mainly affects the heart, and symptoms include shortness of breath, irregular heartbeat, fatigue, coughing or wheezing, swelling and brain fog. Carpal tunnel syndrome and spinal stenosis are also common.
- Often abbreviated as: wATTR-CM, wtATTR-CM or ATTRwt-CM.
- Formerly known as: senile systemic amyloidosis (SSA) or senile cardiac amyloidosis.
Hereditary ATTR-CM: This form of ATTR-CM is caused by a mutation in the TTR gene and is passed down in the family. As well as the heart failure symptoms, carpal tunnel and spinal stenosis found in wild-type ATTR-CM, hereditary ATTR-CM can also affect the gastrointestinal tract, leading to nausea and abdominal pain.
- Often abbreviated as: hATTR-CM, ATTRm or ATTRv-CM.
- Formerly known as: familial amyloid cardiomyopathy or mutant ATTR.
You may see the specific mutation listed in discussions of hereditary ATTR-CM, such as Val122Ile or Thr60Ala. There are over 130 variants that cause hereditary ATTR-CM. Since wild-type ATTR-CM isn’t caused by a variant, seeing a variant always means the hereditary form of ATTR-CM is being discussed.
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