What is ATTRv?
Hereditary ATTR (ATTRv) is a rare, inherited, disease that can get worse over time and can lead to death if untreated.
Amyloidosis is a group of diseases caused when misfolded proteins, called amyloid, build up and form fibrils that deposit in the body's organs and tissues, affecting their ability to function.4
Hereditary transthyretin amyloidosis (ATTRv) is a type of amyloidosis that is caused by a change (also referred to as a mutation or variant) in the transthyretin gene, which provides the instructions for the making of the transthyretin (TTR) protein.
Normally, the TTR protein circulates in your blood in groups of four units. However, when you have an inherited TTR gene variant, the resulting TTR protein may become unstable and fall apart into pieces that reform into amyloid fibrils. The amyloid fibril then gets deposited in different organs and tissues around the body, most commonly in the heart and around the nerves.
Over time, this can lead to:
- Heart problems, also known as cardiomyopathy, which can include fatigue, shortness of breath, swelling of the feet and hands, and hospitalizations for heart failure
- Nerve damage, also known as polyneuropathy, which can include numbness and tingling in the hands and feet, diarrhea, constipation, and problems walking
On Rare: ATTRv
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