Transthyretin amyloid cardiomyopathy (ATTR-CM) is a life-threatening disease that disguises itself as common heart conditions. It occurs when a normally occurring protein called transthyretin becomes unstable, breaks apart, and forms clusters called amyloid fibrils. Deposition of amyloid fibrils causes stiffening of heart tissue, leading to heart failure. While it can run in families (hereditary ATTR-CM), it can also occur in people without a family history (wild-type ATTR-CM).
The hereditary type of ATTR-CM manifests in one’s 40s or 50s, while the wild type is usually detected after the age of 70. Symptoms are similar to heart failure such as shortness of breath, swelling in legs and belly, chest pain, arrythmias, atrial fibrillation, lightheadedness, and loss of consciousness. Numbness or tingling in the hands and feet is common in hereditary type, and bilateral carpal tunnel syndrome and spinal stenosis are common in the wild type.
Delays in diagnosis happen due to low awareness among physicians and due to the perception of rarity. Patients with the wild type of the disease are typically older and may have other health issues often resulting in misdiagnosis.
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“Maybe your doctor is not familiar with ATTR-CM, so query them. If you don’t inquire, you won’t get tested, and the problem may go unnoticed,” says Dr. Guy d’Anjou, a retired doctor who was diagnosed with wild-type ATTR‑CM. Advancements in imaging techniques are shifting ATTR-CM from a rare disease to an increasingly common condition. As Dr. d’Anjou says, “It is a rare disease, but not so rare that people shouldn’t be aware.” Dr. Ryan Davey, a cardiologist at the London Health Science Centre suggests, “It should be called “ATTR-CM” not “amyloidosis” to prevent confusion among physicians.”
Early Detection is Crucial for Better Quality of Life
Dr. Davey emphasizes, “Early detection is the key. Timely treatment can slow disease progression almost to a crawl. If there is heart failure along with other suspicious symptoms such as carpal tunnel syndrome in both arms, biceps tendon rupture, spinal stenosis, or unusual signs of osteoarthritis, bring it to your doctor’s attention. For those with hereditary ATTR-CM, family screening is advised. If an ATTR-CM patient remains untreated and develops symptoms of heart failure, survival is only three years.”
Anne Marie Carr, who was diagnosed with Hereditary Transthyretin Amyloidosis with cardiac, neuropathy and gastrointestinal involvement, encourages self-advocacy, “I knew something was wrong. You know your body best. Be your own advocate.” Dr. d’Anjou adds, “Raising awareness about the condition is essential. Informed individuals spend less time in emergency rooms, and they can live more productive lives.”
Timely Diagnosis Extends Longevity
Screening early for signs of ATTR-CM allows for timely treatment and consistent benefits. This prevents late diagnosis especially in patients without a family history, where symptoms are often mistaken for common heart conditions. Carr stresses, “With greater awareness, I could have been diagnosed within the first two years,” and Dr. d’Anjou adds, “If there was more awareness, I could have been diagnosed at 74 instead of 81, avoiding my current situation.”
Delayed treatment results in irreversible loss of quality of life. Dr. Davey highlights “Heart failure is an epidemic in Canada and 5 to 10 per cent of heart failure patients have ATTR. Early detection can prevent disability. If the diagnosis is delayed, patients will progress. If they are diagnosed early, treatment will keep them at their current state and prevent the disease from getting worse. Timely diagnosis and prompt treatment extends both the quality of life and longevity.”
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For more information, talk to your doctor or visit madhattr.ca.
This article was made possible with the support from Pfizer Canada.
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