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 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. Some common tests includea:
- Genetic testing
- Tissue biopsy
aThis is not a complete list of tests that can help diagnose hATTR amyloidosis
- 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 resources available to help you understand your diagnosis
Start a conversation with your doctor
Complete this interactive guide before your next doctor visit. It can help you begin a conversation with your doctor about your experience.
What are the symptoms of hATTR amyloidosis?
hATTR amyloidosis can cause symptoms that affect several parts of the body, such as the nerves, heart, and digestive system, which can worsen quickly if left untreated.
Nerve damage that affects sensation, movement, strength, the digestive system, and other bodily functions may be referred to as polyneuropathy.
Choose below to see:
polyneuropathy
- 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
- 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
- Glaucoma
- Floaters in eyes
- Kidney dysfunction
This is not a complete list of symptoms that may be experienced with hATTR amyloidosis. You may not experience all of these symptoms or experience them at the same time.
- 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
- 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
- Glaucoma
- Floaters in eyes
- Kidney dysfunction
This is not a complete list of symptoms that may be experienced with hATTR amyloidosis. You may not experience all of these symptoms or experience them at the same time.
AMVUTTRA® does not treat all of the symptoms of hATTR amyloidosis.
