About this disease
It took a long time for someone to put all of my symptoms together, despite my family history of hATTR amyloidosis.
Lane, living with the polyneuropathy of hereditary transthyretin-mediated amyloidosis (ATTR) and taking TEGSEDI®
What is the polyneuropathy of hereditary ATTR amyloidosis?
The polyneuropathy of hereditary ATTR amyloidosis is caused by a change in the gene that makes a specific protein in your body
What happens in patients with the polyneuropathy of hereditary ATTR amyloidosis (AM-uh-loy-DOH-sis)?
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Your genes
You have a change or mutation in the gene that makes a protein called transthyretin (trans-THIGH-ree-tin), or TTR
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Your liver
TTR is made in the liver. Your gene causes TTR proteins to form in an unusual shape
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Protein clusters
The unusual shape causes TTR proteins to clump together in clusters. These clusters are called amyloid fibrils
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Amyloid buildup
Amyloid fibrils build up in the body and damage tissues and organs
What is polyneuropathy?
Hereditary ATTR amyloidosis may cause polyneuropathy, or multiple types of nerve damage
Peripheral sensorimotor neuropathy can cause
- Nerve damage leading to symptoms such as tingling, numbness, or pain in the hands or feet
- Difficulty walking
- Loss of balance
Autonomic neuropathy can affect other organs of the body and cause
- Vomiting and feeling sick
- Diarrhea or constipation
- Unintended weight loss
- Irregular heartbeat
- Dizziness from low blood pressure
- Sexual dysfunction
You may not experience all of these symptoms, but with the polyneuropathy of hereditary ATTR amyloidosis, daily living gets more difficult over time
I started having symptoms about 4 or 5 years ago; I noticed the neuropathy in my fingers and toes. It was manageable but did progress and become painful.
Mike, living with the polyneuropathy of hereditary ATTR amyloidosis and taking TEGSEDI
I have come to believe that my cardiac issues may have masked other issues that were probably brewing behind the scenes… because I began to develop polyneuropathy and GI issues.
Lane, living with the polyneuropathy of hereditary ATTR amyloidosis and taking TEGSEDI
Before I became symptomatic, I was very active. I used to love riding my bicycle, dancing, racing motorcycles—so it was devastating when I couldn’t do these things anymore due to my condition.
Chuck, living with the polyneuropathy of hereditary ATTR amyloidosis and taking TEGSEDI
The importance of treating early
Don’t wait until it gets worse
The polyneuropathy of hereditary ATTR amyloidosis worsens over time if left untreated
Peripheral sensorimotor neuropathy can occur as tingling, numbness, or pain. It can make daily tasks—such as fastening buttons, turning a key in a lock, or walking—more difficult over time.
Autonomic neuropathy can negatively impact the functioning of certain organs such as the stomach and intestines, leading to symptoms such as diarrhea and/or constipation that often alternate.
Nerve damage leading to peripheral sensorimotor neuropathy and/or autonomic neuropathy may worsen over time if left untreated. These symptoms can advance quickly, but there are treatment choices available. It is critical to receive appropriate treatment as soon as possible to help preserve nerve function.
It is important for you and your doctor to consider treatment as soon as possible after confirming your diagnosis
Genetics
The polyneuropathy of hereditary ATTR amyloidosis is passed down through family members
A parent who has the polyneuropathy of hereditary ATTR amyloidosis has a 50% chance of passing the gene mutation on to his or her child
It is important for people with the polyneuropathy of hereditary ATTR amyloidosis to talk openly with their families about it.
