ATTR amyloidosis is a rare condition. It occurs when specific proteins in the body do not form correctly. ATTR stands for amyloid transthyretin. Transthyretin is a protein made by the liver. It carries vitamin A and thyroid hormones through the bloodstream. Normally, the body breaks down and recycles old proteins. When these proteins misfold, the body cannot break them down. This causes them to build up in tissues and organs over time.
Understanding this condition helps patients and caregivers work together with medical teams to notice early changes and manage care effectively.
What causes ATTR amyloidosis?
ATTR amyloidosis centers around a single protein called transthyretin (TTR). People develop this build-up in two main ways:
Hereditary ATTR: This form passes down through families through genes. Changes in the TTR gene cause the body to make proteins that fold into the wrong shape.
Wild-type ATTR: This form is not passed down through family genes. Instead, it happens naturally as people get older. It is most common in older adults.
What are symptoms of ATTR amyloidosis?
When proteins build up in organs, they prevent those organs from working normally. Symptoms can show up in different parts of the body depending on where the protein build-up occurs.
Heart and circulation problems
When protein builds up in the heart, the heart muscle becomes thick and stiff. This makes it harder for the heart to pump blood throughout the body. People often feel unusual fatigue or short of breath during simple daily activities like walking. Fluid can also build up, leading to swelling in the legs, ankles, and feet, or changes in how fast or slow the heart beats. Some people do not notice any heart symptoms right away.
Nerve and gut problems
Build-up in the nerves affects how signals travel through the body. This often causes pain, numbness, or a "pins and needles" feeling in the hands, fingers, legs, and feet. It can lead to wrist pressure known as carpal tunnel syndrome. Nerves that control automatic body functions can also be affected, leading to dizziness when standing up, changes in vision, or stomach problems such as diarrhea, constipation, and feeling full too quickly after eating.
What are the tests to confirm ATTR Amyloidosis?
Care teams use a few standard tests to check for protein build-up, depending on the symptoms and the part of the body affected.
Heart tests: An EKG checks the electrical signals of the heart. Ultrasound tests (echocardiograms) or specialized body scans (MRIs) help doctors check the thickness and strain on the heart muscle.
Tissue samples: Doctors may take a small tissue sample, called a biopsy, to look for protein build-up under a microscope.
Genetic testing: Simple blood tests can check for gene changes to see if the condition runs in families.
Managing ATTR amyloidosis requires clear communication with your healthcare team. Because many symptoms can overlap with cancer treatment side effects, sharing any new or changing symptoms with your doctors is essential.
