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.
It runs in the family
If one parent has hATTR amyloidosis, each child will have a 50% chance of inheriting the genetic variant that causes the condition. However, inheriting a TTR gene variant doesn’t necessarily mean that they will develop hATTR amyloidosis.
Sharing accurate information with your family is key. It can help to involve your doctor or get in touch with an Alnylam Patient Education Liaison (PEL) to help with these conversations.
Symptoms of hATTR amyloidosis
hATTR amyloidosis can cause a range of symptoms that do not seem connected. Because of this, and because each person may experience different symptoms, people with hATTR amyloidosis are often misdiagnosed with other, more common conditions.
Some symptoms of hATTR amyloidosis are caused by polyneuropathy, which is damage to nerves that affects sensation, movement, strength, and bodily functions such as digestion, urination, and sexual function.
Symptoms related to the nerves in hands, feet, arms and legs:
- Burning pain
- Carpal tunnel syndrome
- Decreased reflexes
- Difficulty walking
- Temperature sensitivity loss
- Tingling and/or numbness
Symptoms related to the digestive system:
- Feeling full quickly
- Severe constipation
- Unintentional weight loss
Symptoms related to the heart:
- Abnormal heart rhythms and palpitations (atrial fibrillation)
- 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
- Kidney dysfunction
This is not a complete list of symptoms that may be experienced with hATTR amyloidosis.
ONPATTRO® (patisiran) does not treat all of these symptoms.
As the disease progresses, quality of life can continue to decline
- Decreased mobility
- Trouble with self-care
- Difficulty performing usual activities
Worsening symptoms may require a loved one to help you from time to time. Becoming a caregiver comes with a lot of responsibility, but there are tips and information in this downloadable Guide for Caregivers that may be helpful during the transition into this role.
How hATTR amyloidosis is diagnosed
hATTR amyloidosis is commonly misdiagnosed, as the symptoms may be similar to those of other conditions. Consider compiling your family’s medical history and tracking your symptoms to help your doctor determine the right course of action. If your doctor suspects you may be at risk for, or are currently exhibiting, symptoms related to hATTR amyloidosis, they may order a number of tests to confirm a diagnosis.
Some of the most common tests:
- Neurological and/or cardiac evaluations, such as nerve conduction study (NCS), electrocardiography (ECG/EKG), and echocardiography (echo)
- Tissue biopsy
- Genetic testing