Changes in the eyes may help doctors diagnose transthyretin amyloid cardiomyopathy (ATTR-CM) in its early stages, according to a recent review published in the journal Current Problems in Cardiology.
Even with modern heart scans, ATTR-CM is still hard to diagnose. One reason is that other heart diseases can look very similar on imaging tests. Another is that people in the early stages of ATTR-CM may not show typical signs of the disease and doctors may think their symptoms are just part of normal aging. Because of this, many patients are missed.
The review’s authors highlighted eye problems that may help to diagnose ATTR-CM earlier. One of the most helpful warning signs is vitreous amyloidosis. Patients may notice blurry vision, floating spots or trouble seeing clearly. During an eye exam, doctors may see cloudy material in the gel inside the eye that looks like cotton or wool. This material is made of amyloid protein. Many people with inherited ATTR have this eye problem.
What are amyloid fibrils?
In ATTR-CM, amyloid fibrils are clumps of faulty, misfolded TTR proteins that are deposited in the heart, nerves and internal organs. In the heart, fibrils affect the left ventricle, causing the heart tissue to thicken and stiffen. This makes it more difficult for the heart to pump blood around the body and can lead to heart failure.
Another red flag is glaucoma — high fluid pressure in the eye — that does not improve with standard eye drops and requires surgery. It happens because amyloid protein builds up in the eye and blocks fluid drainage.
Read more about ATTR-CM testing and diagnosis
Other eye changes can also be a sign of ATTR-CM. These include uneven pupil shapes (scalloped pupillary margins), dry eyes and protein buildup on the eye surface (conjunctival amyloidosis).
“Recognition of these ocular signs requires specialized ophthalmologic examination,” the review’s authors said. “Therefore, cardiovascular physicians should proactively inquire about visual changes and ocular discomfort during history-taking, and routine ophthalmologic consultation should be recommended for patients highly suspected of ATTR to avoid missing important diagnostic clues.”
The review also notes that people with narrowing of the heart’s aortic valve (aortic stenosis) are at higher risk for ATTR-CM, and early screening can help guide treatment decisions.
Sign up here to get the latest news, perspectives, and information about ATTR-CM sent directly to your inbox. Registration is free and only takes a minute.
