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The Unexpected Diagnosis: How Carpal Tunnel Led to Amyloidosis

Thursday, October 26, 2023

Sometimes, life's most profound revelations occur unexpectedly, unfolding in ways we could never anticipate. Robert’s* journey into the world of Transthyretin Amyloid Cardiomyopathy, or ATTR-CM, is one such tale and a powerful reminder that even seemingly unrelated symptoms can lead to life-altering diagnoses. His story underscores the importance of proactive healthcare and listening to our own body.

ATTR-CM is a rare, complex and multifaceted disease. A serious, underrecognized, and underdiagnosed condition affecting the heart, as well as other organs, ATTR-CM can cause seemingly unrelated signs and symptoms.

Robert is a physician from the greater Toronto area. Growing up, he was well-aware of his family's history of heart disease. It was a part of his family's history, a chapter that had guided his own health-conscious choices throughout his life. Regular check-ups, a healthy diet, and an active lifestyle were his shield against the looming specter of cardiovascular issues.

During a regular checkup for his high blood pressure, Robert shared with his cardiologist that he had begun to experience an unusual sensation. “I didn’t realize anything was wrong. In the previous year, every now and again I would feel something like a murmur over my heart.”

Robert’s cardiologist decided to delve deeper into the matter. An echocardiogram was ordered. A test that would change the trajectory of Robert’s life.

Separately, or so Robert thought, during the last winter, he found himself battling an unwelcome guest - carpal tunnel syndrome. Attributing it to the demands of snow shoveling, he soldiered on, dismissing the hand pain as a minor inconvenience. However, the pain persisted, and Robert decided to mention it to his cardiologist during a routine visit. The results of the previously ordered echocardiogram were unveiled, and they held an unexpected revelation. Robert’s cardiologist announced that he probably had ATTR-CM.

Robert’s unexpected journey from carpal tunnel syndrome to an ATTR-CM diagnosis, is almost typical of what those living with ATTR-CM experience – random and often unrelated symptoms that ladder up to a bigger diagnosis.
On World Amyloidosis Day, Robert shares his story as a beacon of hope and a powerful call to action.

“It’s so totally under the radar. It’s totally misdiagnosed. Awareness among patients, and even physicians, remains low, which results in ATTR-CM being significantly underdiagnosed. People don’t think about it. Family physicians definitely don’t know about it. I think people just need to be more aware.”

His message to patients is clear: “don't wait until you're in cardiac failure to seek help. Be proactive about your health, listen to your body, and consult a healthcare provider if something doesn't feel right. The more you tell your doctor, the better they can help you understand your condition.”

Celebrating its third anniversary, the aim of this year’s World Amyloidosis Day is to increase general awareness of ATTR-CM.  With patients often facing a four-year delay before being properly diagnosed, World Amyloidosis Day is dedicated to bridging the information gap.

Stories, like those experienced by Robert, show us how important it is to listen to our bodies, to advocate for our health, and how by working together, we can help those living with ATTR-CM get an earlier diagnosis and therefore, better overall quality of care.

*The name used in this article is a pseudonym, to protect the patient’s privacy.

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