Early diagnosis and individualized treatment are key to optimizing outcomes among patients with transthyretin amyloid cardiomyopathy (ATTR-CM), according to a study recently published in the Journal of Clinical Medicine.
ATTR-CM is increasingly well-recognized among clinical circles. Nevertheless, studies suggest that this disease remains underdiagnosed, largely due to the nonspecificity of possible symptoms. This disease remains fatal if left untreated.
Investigators conducted a review of current best practices with regards to the diagnosis and treatment of patients with ATTR, including those who present primarily with ATTR-CM (i.e., heart disease).
In terms of diagnosis, the authors said doctors should look out for “red flags” that strongly point to the possible presence of ATTR. Examples of “red flags” include symptoms classically associated with heart failure, aortic stenosis (the narrowing of the main artery from the heart) and certain unusual laboratory findings (such as high cardiac troponin or N-terminal pro-brain natriuretic peptide [NT-proBNP] levels).
Read more about ATTR-CM testing and diagnosis
The diagnostic gold standard for ATTR-CM remains Congo red staining of biopsy specimens. Genetic testing can help clarify whether the disease has a genetic origin; if this is the case, patients may be offered genetic counseling and ATTR screening for their family members.
Current therapies include transthyretin stabilizers, such as tafamidis and acoramidis, which can significantly alleviate disease symptoms associated with ATTR-CM. For example, tafamidis has been shown to be effective in reducing patient mortality and cardiovascular hospitalization, while acoramidis has been shown to be effective in improving patient quality of life and functional capacity, the authors noted.
Possible future therapies include gene editing, which has the potential to remove the genetic defect associated with ATTR, thus dealing with the root cause of the disease. Other possible future therapies work by improving on the efficacy of current therapies and have similar mechanisms of action, namely the stabilizing of the transthyretin tetramer or the reduction of TTR transthyretin.
“Amyloidosis is no longer untreatable,” the study’s authors concluded. “Improved awareness, earlier diagnosis, and disease-modifying therapies, including gene silencing and [transthyretin] stabilization, have changed the trajectory of this condition. However, access to modern diagnostics and timely recognition remain key challenges.”
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