hATTR amyloidosis is a rare and rapidly progressive condition caused by a variant, or change, in the transthyretin (TTR) gene. This change in the TTR gene may also be referred to as a mutation.
- If one parent has hATTR amyloidosis, each child will have a 50% chance of inheriting the genetic variant that causes the condition
- A family member may inherit the TTR gene variant, but having the variant does not necessarily mean they will develop hATTR amyloidosis
- The age that symptoms typically appear ranges from the mid-20s to mid-60s
- hATTR amyloidosis is often misdiagnosed because its symptoms resemble those of other conditions
- If your doctor suspects that you have hATTR amyloidosis, they may order further tests to make a diagnosis. While this is not a complete list of tests that can help diagnose hATTR amyloidosis, some tests include:
- Neurological and/or cardiac evaluations, such as nerve conduction study (NCS), electrocardiography (ECG/EKG), and echocardiography (echo)
- Tissue biopsy
- Genetic testing
- There are more than 120 gene variants known to be associated with hATTR amyloidosis
- It is more common for certain ethnicities to be at risk for hATTR amyloidosis, including people of African, Brazilian, Irish, Japanese, Portuguese, and Swedish descent. It’s important to learn about your genetic history because it may help determine your risk for hATTR amyloidosis
- The 3 most common genetic variants that can cause hATTR amyloidosis in the United States are:
- V122I: more common in people of African descent
- T60A: more common in people of Irish descent
- V30M: more common in people of Japanese and Portuguese descent
- It can be difficult to come to terms with a diagnosis of hATTR amyloidosis, and you may have questions about the disease
- It’s important to know that you’re not alone. There are educational resources available to help you understand your diagnosis
Have questions?
Alnylam Patient Education Liaisons (PELs) can provide education to you and your family.
PELs are employees of Alnylam Pharmaceuticals. They are not acting as healthcare providers and are not part of your healthcare team.
What are the symptoms of hATTR amyloidosis?
There are many different symptoms of hATTR amyloidosis, and they can affect several parts of the body, including the nerves, heart, and digestive system.
Nerve damage that affects sensation, movement, strength, the digestive system, and other bodily functions may be referred to as polyneuropathy.
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- Burning pain
- Carpal tunnel syndrome
- Decreased reflexes
- Difficulty walking
- Temperature sensitivity loss
- Tingling and/or numbness
- Weakness
- Diarrhea
- Feeling full quickly
- Nausea
- Severe constipation
- Unintentional weight loss
- Vomiting
- Abnormal heart rhythms and palpitations (atrial fibrillation)
- Fatigue
- Heart failure
- Leg swelling (edema)
- Shortness of breath
- Abnormal sweating
- Difficulty urinating
- Dizziness upon standing
- Recurrent urinary tract infections
- Sexual dysfunction
Other symptoms of hATTR amyloidosis include:
- Blurred or spotty vision
- Floaters in eyes
- Glaucoma
- Kidney dysfunction
This is not a complete list of symptoms that may be experienced with hATTR amyloidosis.
- Burning pain
- Carpal tunnel syndrome
- Decreased reflexes
- Difficulty walking
- Temperature sensitivity loss
- Tingling and/or numbness
- Weakness
- Diarrhea
- Feeling full quickly
- Nausea
- Severe constipation
- Unintentional weight loss
- Vomiting
- Abnormal heart rhythms and palpitations (atrial fibrillation)
- Fatigue
- Heart failure
- Leg swelling (edema)
- Shortness of breath
- Abnormal sweating
- Difficulty urinating
- Dizziness upon standing
- Recurrent urinary tract infections
- Sexual dysfunction
Other symptoms of hATTR amyloidosis include:
- Blurred or spotty vision
- Floaters in eyes
- Glaucoma
- Kidney dysfunction
This is not a complete list of symptoms that may be experienced with hATTR amyloidosis.
AMVUTTRA® does not treat all of the symptoms of hATTR amyloidosis.