Factors contributing to the underdiagnosis of hereditary transthyretin amyloidosis (hATTR) in Black patients.

Abstract

Hereditary transthyretin amyloidosis (hATTR) is a progressive, multisystemic, and life-threatening disease that disproportionately affects individuals of African descent, with an estimated prevalence of 3.4% of Black Americans. hATTR is often mis- or underdiagnosed, partially because many of its symptoms overlap with other cardiac conditions. This study highlights additional factors that may be contributing to the underdiagnosis of hATTR in Black patients. Participants were ascertained from the Emory University Amyloidosis Clinic with purposive sampling. A total of 11 interviews were conducted via telephone, transcribed, and coded by two coders for thematic analysis. A Cohen's kappa of 0.74 was reached. The overwhelming majority of participants cited misdiagnosis, mistrust of healthcare providers, denial or misunderstanding of one's own health risks, and poor family communication as prevalent contributing factors to the underdiagnosis of hATTR. Participants cited appropriate referrals to heart failure providers and family letters as contributing factors to proper diagnosis of hATTR. Importantly, participants emphasized the need for more personal and intimate relationships with providers in order to improve uptake of genetic testing in this population. Participants suggested engaging directly with the Black community to improve trust. This study highlights the need for improvements to be made regarding the diagnosis of hATTR in the Black population. Participants suspected of having hATTR should be referred to a heart failure cardiologist for appropriate diagnosis. Genetic testing and follow-up genetic counseling is recommended to appropriately inform the patient of health risks for themselves and their family members.