Red flags for transthyretin cardiac amyloidosis (ATTR-CA) are routinely missed, resulting in lost opportunities for a timely diagnosis, according to a study published in the World Journal of Cardiovascular Diseases.
ATTR-CA may be hereditary or wild type; in both cases, misfolded TTR proteins pathologically accumulate in the body. A number of comorbidities are linked to ATTR-CA, such as bilateral carpal tunnel syndrome and spinal stenosis; these extracardiac manifestations may serve as clues to the presence of the disease.
The authors of the study performed a retrospective, cross-sectional, single-center study involving older adult patients (men over 50 and women over 60) who were seen at a Michigan tertiary center between January 2010 and December 2016. Researchers identified 295 patients with bilateral carpal tunnel syndrome with concomitant atrial fibrillation. They then further identified patients considered “high-risk” for having a diagnosis of ATTR-CA; this included patients with both conditions above, as well as heart failure with echocardiography showing signs of left ventricular hypertrophy. The primary outcome of the study was whether these patients had undergone evaluations for ATTR-CA.
The research team identified 67 (22.7%) patients in the high-risk group and 228 (77.3%) who were considered low risk. They reported that the proportion of patients in the high-risk group diagnosed with ATTR-CA (5 of 67 patients) was significantly higher than that in the low-risk group (1 of 228 patients). Overall mortality was also significantly higher among individuals in the high-risk group (43.3% compared with 24.6% in the low-risk group).
Read more about ATTR-CA etiology
The research team found that only 9 individuals (13.4%) in the high-risk group underwent assessments appropriate for diagnosing ATTR-CA. Three patients underwent a technetium-99m pyrophosphate scan, a cardiac magnetic resonance imaging scan, and an echocardiography with strain, respectively; only 2 had further genetic studies carried out.
“Our findings suggest that systematic screening for CA is low, even amongst cardiologists, and that cardiac imaging studies for the evaluation of CA are underutilized,” the authors concluded.
Alsaadi A, Cerna-Viacava R, Obeidat L, et al. Screening for transthyretin cardiac amyloidosis in patients with bilateral carpal tunnel syndrome: identifying missed opportunities for early detection and treatment. World J Cardiovasc Dis. 2023;13(7):366-376. doi:10.4236/wjcd.2023.137035.