Disease Overview

What is hereditary ATTR (hATTR) amyloidosis?

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.

Connect With an Alnylam Educator

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.

Choose below to see:

Symptoms of hATTR amyloidosis
Polyneuropathy symptoms
Symptoms related to nerves in hands, feet, arms, and legs
  • Burning pain
  • Carpal tunnel syndrome
  • Decreased reflexes
  • Difficulty walking
  • Temperature sensitivity loss
  • Tingling and/or numbness
  • Weakness
Symptoms related to the digestive system
  • Diarrhea
  • Feeling full quickly
  • Nausea
  • Severe constipation
  • Unintentional weight loss
  • Vomiting
Symptoms related to the heart
  • Abnormal heart rhythms and palpitations (atrial fibrillation) 
  • Fatigue
  • Heart failure
  • Leg swelling (edema)
  • Shortness of breath
Symptoms related to other bodily functions
  • 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.

Symptoms related to nerves in hands, feet, arms, and legs
  • Burning pain
  • Carpal tunnel syndrome
  • Decreased reflexes
  • Difficulty walking
  • Temperature sensitivity loss
  • Tingling and/or numbness
  • Weakness
Symptoms related to the digestive system
  • Diarrhea
  • Feeling full quickly
  • Nausea
  • Severe constipation
  • Unintentional weight loss
  • Vomiting
Symptoms related to the heart
  • Abnormal heart rhythms and palpitations (atrial fibrillation) 
  • Fatigue
  • Heart failure
  • Leg swelling (edema)
  • Shortness of breath
Symptoms related to other bodily functions
  • 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.

Up next Learn how AMVUTTRA works

Important Safety Information and Indication

Important Safety Information

What are the most important things I should know about AMVUTTRA® (vutrisiran)?

AMVUTTRA can cause:

  • Low Vitamin A Levels

    Treatment with AMVUTTRA lowers the amount of vitamin A in your blood. Your doctor will tell you to take a vitamin A supplement every day. You should not take more than the amount of vitamin A recommended by your doctor.

    Low vitamin A levels can affect vision. If you have problems with your vision (e.g., night blindness) while taking AMVUTTRA, talk to your doctor. Your doctor may refer you to an eye specialist.

 

What are the common side effects of AMVUTTRA?

The most common side effects of AMVUTTRA are pain in the arms or legs, pain in the joints (arthralgia), shortness of breath (dyspnea), and low vitamin A levels.

These are not all the possible side effects of AMVUTTRA. Talk to your doctor about side effects that you experience. You are encouraged to report negative side effects of prescription drugs to the U.S. Food and Drug Administration (FDA). Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.

Indication

What is AMVUTTRA?

AMVUTTRA is a prescription medicine that treats the polyneuropathy caused by an illness called hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis). AMVUTTRA is used in adults only.

For additional information about AMVUTTRA, please see the full Prescribing Information.

For healthcare providers
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