Significant advances have been made in the diagnosis and management of transthyretin amyloid cardiomyopathy (ATTR-CM), according to a review published recently in the International Journal of Molecular Sciences.
Recent innovations in imaging techniques and therapeutic approaches have improved the detection of the condition and offered targeted interventions for affected patients, the review said.
What is ATTR-CM?
Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is a rare progressive disease of the heart muscle that leads to congestive heart failure. It occurs when the transthyretin protein produced by the liver is unstable. Symptoms include fatigue; shortness of breath; irregular heart rate or palpitations; swelling of the legs, ankles and stomach; brain fog; wheezing; and dizziness. It often goes underdiagnosed because of a lack of awareness and knowledge of the disease. There is currently no cure for ATTR-CM.
The advances mean earlier diagnosis, tailored treatments and improved outcomes. By combining cutting-edge imaging with targeted therapies, the medical community is better equipped to address the challenges of ATTR-CM, offering hope and better quality of life for those affected, the review said.
Read more about ATTR-CM therapies
“However, despite early diagnosis and specific treatment, ATTR-CM remains a progressively debilitating disease associated with high mortality,” review authors said.
ATTR-CM results from amyloid deposits in the heart and can lead to heart failure and arrhythmias, profoundly affecting a patient’s quality of life. Early detection and appropriate treatment are critical for improving outcomes.
Radionuclide imaging can highlight calcium ions in amyloid fibrils, offering a noninvasive diagnostic tool. This imaging method works well in combination with biochemical assays that evaluate monoclonal proteins and free light chains. Together, these tests can confirm the diagnosis without requiring a biopsy.
The sensitivity of imaging varies, and emerging tracers initially developed for Alzheimer’s disease hold promise for further improvements in diagnosing cardiac amyloidosis.
Treatment strategies for ATTR-CM aim to interrupt the amyloidogenic process. These include stabilizing the transthyretic protein, reducing its production in the liver through gene-silencing therapies and targeting amyloid deposits directly with monoclonal antibodies. These interventions, when started early, can slow progression of disease, reduce symptoms and improve survival.
While imaging and therapies have revolutionized care, challenges remain. Radionuclide imaging requires specialized protocols and expertise, and some therapies may be costly or have limited availability. In addition, the complexity of ATTR-CM demands a multidisciplinary approach to manage heart failure, arrhythmias and other complications effectively.
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