The diagnostic delays often seen with transthyretin amyloid cardiomyopathy (ATTR-CM) can be reduced by increasing awareness and promoting education regarding this rare condition, suggests a study recently published in ESC Heart Failure.
ATTR-CM is a disorder in which abnormally folded proteins accumulate in the heart and cause heart problems. Eventually, many patients go on to develop heart failure.
Despite the potential severity of this disease, diagnosing ATTR-CM at its early stages is a considerable challenge due to the non-specific nature of some of its symptoms. The study’s authors sought to assess the nature of diagnostic delays in ATTR-CM and evaluate how these delays have evolved over time.
The research team screened adult patients with ATTR-CM who were seen at a German hospital between January 2018 and December 2023. Researchers were able to access a wealth of medical information on recruited participants. To assess how the diagnosis of ATTR-CM has changed over time, researchers looked at two specific periods: the years between 2018 and 2020, as well as the years between 2021 and 2023.
Read more about ATTR-CM testing and diagnosis
In total, investigators included 154 patients with ATTR-CM. Almost all of these patients (96.8%) had the wild-type form of ATTR-CM, which refers to the form of the disease that occurs with aging, as opposed to an inherited form of the disorder.
The research team found that the overall median time from initial clinical suspicion to diagnosis was nearly a year, at 361 days. The most common initial symptom by far that led to diagnostic assessments was unexplained shortness of breath (76%). Between the initial period of 2018-2020 and the secondary period of 2021-2023, the time to diagnosis decreased from 398 days to 277 days, indicating improvement in early diagnostic rates.
The reduced time to diagnosis may be partially explained by the landmark approval of tafamidis, a key drug in ATTR-CM, which may have increased diagnostic efforts.
Researchers noted that there was a higher proportion of women who were diagnosed in the 2021-2023 period compared with the period between 2018 and 2020, highlighting the inherent risk of underdiagnosis among female patients. In addition, patients were increasingly being diagnosed with ATTR-CM at earlier stages of the disease, suggesting that sustained efforts to raise awareness of the disease have taken effect.
The research team wrote that diagnostic delays were likely caused by a variety of factors, including limited awareness of the disease, both among patients and healthcare professionals. Nevertheless, early diagnosis remains an important goal because it allows for early interventions to be introduced, which may improve prognosis.
“These findings highlight the critical role of interdisciplinary networks, amyloidosis boards and specialized clinics in facilitating timely diagnosis and treatment access,” the research team concluded.
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