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Updated: Sep 30, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K

Racial and Ethnic Disparities in Transthyretin Cardiac Amyloidosis

Gabriela Spencer-Bonilla1, Joyce N Njoroge2, Keon Pearson1

  • 1Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.

Current Cardiovascular Risk Reports
|March 14, 2022
PubMed

Insights

Transthyretin amyloid cardiomyopathy (ATTR-CM) affects older adults and Black individuals disproportionately. Addressing disparities in diagnosis and treatment is crucial for improving outcomes in this underrepresented population.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive and often fatal condition.
  • ATTR-CM is increasingly recognized as a significant cause of heart failure, particularly in older adults.
  • Historically underestimated, ATTR-CM prevalence is higher in specific demographics, including individuals of African descent.

Purpose of the Study:

  • To review current knowledge on racial and ethnic disparities in ATTR-CM diagnosis and management.
  • To highlight the disproportionate impact of ATTR-CM on older adults and people of African descent.
  • To examine existing gaps in clinical data and trial representation for minority populations.

Main Methods:

  • Literature review of existing studies on ATTR-CM.
  • Analysis of demographic data concerning ATTR-CM prevalence and diagnosis.
  • Examination of clinical trial participation rates across racial and ethnic groups.

Main Results:

  • ATTR-CM is more prevalent in older adults and people of African descent than previously thought.
  • Significant geographic variations exist in ATTR-CM diagnosis.
  • Black patients are underrepresented in clinical trials and data sets for ATTR-CM.
  • Socioeconomic factors, including cost and access to therapies, exacerbate disparities.

Conclusions:

  • Earlier identification of ATTR-CM in primary care settings can improve outcomes for all patient groups.
  • Future clinical trials must prioritize enrollment of a higher proportion of Black patients.
  • Enhanced strategies are needed to improve access to disease-modifying therapies for affected racial and ethnic minority groups.
Abstract

Keywords:
AmyloidosisCardiac scintigraphyCardiomyopathyDiagnosisRacial disparitiesTransthyretinTreatment

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