WebMD: Navigating hATTR-CM—Why Self-Advocacy Matters
WebMD recently interviewed Lily Stern, MD, co-director of the Cardiac Amyloid Program in the Smidt Heart Institute at Cedars-Sinai, about how advocating for oneself can help patients speed the often-lengthy path to diagnosing hereditary transthyretin amyloid cardiomyopathy (hATTR-CM).
This genetic condition can be difficult to identify because its early symptoms are common signs of many other conditions: shortness of breath, fatigue, lightheadedness, irregular or rapid heartbeat, carpal tunnel syndrome, and neuropathy—numbness or tingling in the hands and feet.
Beyond the overlap, Stern told WebMD another challenge is that symptoms can appear to be unrelated and surface long before heart problems develop.
“Some of these non-cardiac [non-heart related] symptoms can present up to 10 years before they present with any heart issues,” she said.
Stern noted that patients also may see a range of specialists for these seemingly disconnected symptoms. She compared the situation to a well-known parable.
“Each person is touching a different part of the elephant with a blindfold on, so one may think the elephant is a wall and another may think it is a spear,” she told WebMD. “But they can’t take off their blindfold to step back and see that they are all touching an elephant. This is exactly like hATTR-CM.”
Stern encouraged people experiencing a combination of symptoms to speak with their healthcare provider, especially if they “have a family history of unexplained heart disease or neuropathy.”
She emphasized the importance of self-advocacy, including being direct with doctors, sharing a detailed family history, and getting a second medical opinion if needed, to help achieve an earlier diagnosis.
“When we catch hATTR-CM before there is significant cardiac damage, we have the best opportunity to preserve heart function and quality of life,” she said. “Don’t dismiss symptoms without thoroughly considering this diagnosis.”
Read the complete article from WebMD.