Patients

AMYLOIDOSIS

Transthyretin-Mediated Amyloidosis (ATTR) At-A-Glance

Transthyretin-mediated amyloidosis (ATTR) is an underdiagnosed disease with symptoms that can worsen over time and affect multiple parts of the body, including the heart, nerves, and digestive system. It’s caused by the misfolding of transthyretin (TTR) proteins, which aggregate into amyloid fibrils that deposit throughout the body.

Continuous amyloid deposit buildup can lead to various symptoms and conditions in patients, including cardiomyopathy, polyneuropathy, or both:

• ATTR with cardiomyopathy (ATTR-CM) means the buildup of amyloid deposits causes the heart muscles to thicken and makes it difficult for the heart to pump blood to other parts of the body.
  • Cardiomyopathy can lead to heart failure, commonly experienced as shortness of breath, fatigue, and swelling of the legs, which may limit physical activity.
• ATTR with polyneuropathy (ATTR-PN) means the buildup of amyloid deposits damages the nerves affecting sensation, movement, strength, and bodily functions, such as digestion, urination, and sexual function.
  • Polyneuropathy symptoms may appear years before symptoms of cardiomyopathy in people living with ATTR.

There are two types of ATTR:

• Wild-type (wtATTR): Not inherited and may be associated with aging.
• Hereditary ATTR (hATTR): Caused by an inherited gene variant, or change, in the TTR gene passed down through family members. The gene variant causes the TTR protein to misfold and build up in the body as amyloid deposits.