Addressing Health Disparities—The Case for Variant Transthyretin Cardiac Amyloidosis Grows Stronger

The abstract discusses the growing recognition of transthyretin cardiac amyloidosis (ATTRCA) as a commonly encountered condition in clinical practice. The authors highlight the importance of early diagnosis and the availability of effective disease-modifying therapies for improving outcomes in affec...

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Bibliographic Details
Published in:JAMA : the journal of the American Medical Association 2024-06, Vol.331 (21), p.1809-1811
Main Authors: Maurer, Mathew S, Miller, Edward J, Ruberg, Frederick L
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Aged, 80 and over
Amyloid Neuropathies, Familial - genetics
Amyloidosis
Cardiomyopathies
Child
Child, Preschool
Clinical trials
Congestive heart failure
Diagnosis
Genetic screening
Health disparities
Health Status Disparities
Healthcare Disparities
Humans
Infant
Middle Aged
Prealbumin - genetics
Prealbumin - metabolism
Transthyretin
United States
Young Adult
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Summary:The abstract discusses the growing recognition of transthyretin cardiac amyloidosis (ATTRCA) as a commonly encountered condition in clinical practice. The authors highlight the importance of early diagnosis and the availability of effective disease-modifying therapies for improving outcomes in affected patients. They focus on the V142I variant of the transthyretin (TTR) gene, which is associated with ATTRCA and is particularly prevalent in individuals who self-identify as Black. The study by Selvaraj et al. analyzed a large cohort of self-reported Black participants and found that the V142I variant was associated with an increased risk of heart failure and death. The authors emphasize the need for culturally informed communication strategies to empower families with information about genetic testing and cascade testing for at-risk relatives. They also highlight the importance of adequate representation of diverse populations in clinical trials for novel ATTRCA therapeutics. Overall, the study provides compelling evidence of the substantial impact of the V142I variant and calls for efforts to reduce health disparities in the diagnosis and treatment of ATTRCA.
ISSN:0098-7484
1538-3598
1538-3598
DOI:10.1001/jama.2024.2868