Factors Associated with Delayed Diagnosis, Including a Heterogeneous Presentation of Wild-Type Transthyretin Amyloidosis

It remains a clinical challenge to diagnose wild-type transthyretin amyloidosis (ATTRwt). Within the clinical setting, ATTRwt presents heterogeneously, with a wide range of symptoms and is not confined to the classical phenotype of elderly males with low QRS voltages on electrocardiogram and restrictive cardiomyopathy.

When administered early on, new treatments for ATTRwt have proved to be more effective, underscoring the importance of early recognition and diagnosis. In this study, Domínguez and colleagues in Madrid, Spain, attempted to identify variables that are linked with diagnostic delays in ATTRwt.

In a cohort of 100 patients, clinical, electrocardiographic, and echocardiographic characteristics were examined. The majority (77%) of these patients with ATTRwt were male and had a mean age of 80.2 years.

The patients were evaluated at a hospital located in Madrid, Spain, from 2008 to 2018. The time elapsed from the initial onset of symptoms until diagnosis was defined as a diagnostic delay. The researchers identified several variables that appeared to be linked with delayed diagnosis.

In patients with ATTRwt, the mean diagnostic delay was 2.9 years. Patients who were aged <70 years at the onset of symptoms were diagnosed later than older patients, with an average diagnostic delay of 6.3 years compared with a delay of 1.9 years; P = .01. Thirty percent of patients had a left ventricular hypertrophy (LVH) measurement of ≤15 mm, and the researchers identified a statistical trend toward an increased diagnostic delay (4.7 ± 6.9 years vs 2.2 ± 2.7 years; P = .06). A diagnostic delay of ≥3 years occurred in 28% of patients. This group also had a higher rate of pacemaker implantation compared with the overall cohort (35.7% vs 20.8%).

The following factors did not have a significant impact on time until diagnosis: LVH distribution type, low or high electrocardiogram voltages, left ventricular ejection fraction systolic dysfunction, gender, or hypertension history. Patients with concomitant coronary artery disease (20%) experienced statistically significant longer diagnostic delays (6.7 years vs 2.0 years; P = .01).

The researchers concluded that patients with ATTRwt who were aged <70 years and had mild LVH or pacemakers had an increased diagnostic delay. Because only a small percentage of patients present with classical features of the ATTRwt phenotype in the clinical setting, healthcare providers must be aware of the broad range of signs, symptoms, and clinical presentations that could serve as markers for appropriate disease-modifying agents that are currently available or under investigation.

Source: Domínguez F, González-López E, Hernández A, et al. The factors associated with the delayed diagnosis in wild type transthyretin cardiac amyloidosis. Presented at: XVII International Symposium on Amyloidosis 2020; September 14-18, 2020. Abstract PW090.

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