Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy
© 2022 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology..
AIMS: Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly recognized as a cause of heart failure in the elderly. Although wild-type transthyretin amyloidosis is the most frequent form of ATTR-CM found in the elderly, hereditary transthyretin amyloidosis (ATTRv) can also occur. We sought to determine the prevalence of ATTRv among elderly ATTR-CM patients, identify predictors of ATTRv and evaluate the clinical consequences of positive genetic testing in this population.
METHODS AND RESULTS: Prevalence of ATTRv in elderly ATTR-CM patients (≥70 years) was assessed in a cohort of 300 consecutive ATTR-CM patients (median age 78 years at diagnosis, 82% ≥70 years, 16% female, 99% Caucasian). ATTRv was diagnosed in 35 (12%; 95% confidence interval [CI] 3.1-8.8) and 13 (5.3%; 95% CI 5.6-26.7) patients in the overall cohort and in those ≥70 years, respectively. Prevalence of ATTRv among elderly female patients with ATTR-CM was 13% (95% CI 2.1-23.5). Univariate analysis identified female sex (odds ratio [OR] 3.66; 95% CI 1.13-11.85; p = 0.03), black ancestry (OR 46.31; 95% CI 3.52-Inf; p = 0.005), eye symptoms (OR 6.64; 95% CI 1.20-36.73; p = 0.03) and polyneuropathy (OR 10.05; 95% CI 3.09-32.64; p < 0.001) as the only factors associated with ATTRv in this population. Diagnosis of ATTRv in elderly ATTR-CM patients allowed initiation of transthyretin-specific drug treatment in 5 individuals, genetic screening in 33 relatives from 13 families, and identification of 9 ATTRv asymptomatic carriers.
CONCLUSIONS: Hereditary transthyretin amyloidosis is present in a substantial number of ATTR-CM patients aged ≥70 years. Identification of ATTRv in elderly patients with ATTR-CM has clinical meaningful therapeutic and diagnostic implications. These results support routine genetic testing in patients with ATTR-CM regardless of age.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:24 |
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| Enthalten in: |
European journal of heart failure - 24(2022), 12 vom: 23. Dez., Seite 2367-2373 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Maestro-Benedicto, Alba [VerfasserIn] |
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| Links: |
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| Themen: |
Age |
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| Anmerkungen: |
Date Completed 29.12.2022 Date Revised 13.04.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/ejhf.2658 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM345181247 |
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| 245 | 1 | 0 | |a Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy |
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| 500 | |a Date Revised 13.04.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2022 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology. | ||
| 520 | |a AIMS: Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly recognized as a cause of heart failure in the elderly. Although wild-type transthyretin amyloidosis is the most frequent form of ATTR-CM found in the elderly, hereditary transthyretin amyloidosis (ATTRv) can also occur. We sought to determine the prevalence of ATTRv among elderly ATTR-CM patients, identify predictors of ATTRv and evaluate the clinical consequences of positive genetic testing in this population | ||
| 520 | |a METHODS AND RESULTS: Prevalence of ATTRv in elderly ATTR-CM patients (≥70 years) was assessed in a cohort of 300 consecutive ATTR-CM patients (median age 78 years at diagnosis, 82% ≥70 years, 16% female, 99% Caucasian). ATTRv was diagnosed in 35 (12%; 95% confidence interval [CI] 3.1-8.8) and 13 (5.3%; 95% CI 5.6-26.7) patients in the overall cohort and in those ≥70 years, respectively. Prevalence of ATTRv among elderly female patients with ATTR-CM was 13% (95% CI 2.1-23.5). Univariate analysis identified female sex (odds ratio [OR] 3.66; 95% CI 1.13-11.85; p = 0.03), black ancestry (OR 46.31; 95% CI 3.52-Inf; p = 0.005), eye symptoms (OR 6.64; 95% CI 1.20-36.73; p = 0.03) and polyneuropathy (OR 10.05; 95% CI 3.09-32.64; p < 0.001) as the only factors associated with ATTRv in this population. Diagnosis of ATTRv in elderly ATTR-CM patients allowed initiation of transthyretin-specific drug treatment in 5 individuals, genetic screening in 33 relatives from 13 families, and identification of 9 ATTRv asymptomatic carriers | ||
| 520 | |a CONCLUSIONS: Hereditary transthyretin amyloidosis is present in a substantial number of ATTR-CM patients aged ≥70 years. Identification of ATTRv in elderly patients with ATTR-CM has clinical meaningful therapeutic and diagnostic implications. These results support routine genetic testing in patients with ATTR-CM regardless of age | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Age | |
| 650 | 4 | |a Amyloidosis | |
| 650 | 4 | |a Elderly | |
| 650 | 4 | |a Genetic testing | |
| 650 | 4 | |a Transthyretin | |
| 650 | 7 | |a Prealbumin |2 NLM | |
| 700 | 1 | |a Vela, Paula |e verfasserin |4 aut | |
| 700 | 1 | |a de Frutos, Fernando |e verfasserin |4 aut | |
| 700 | 1 | |a Mora, Nerea |e verfasserin |4 aut | |
| 700 | 1 | |a Pomares, Antonia |e verfasserin |4 aut | |
| 700 | 1 | |a Gonzalez-Vioque, Emiliano |e verfasserin |4 aut | |
| 700 | 1 | |a Briceño, Ana |e verfasserin |4 aut | |
| 700 | 1 | |a Cabrera, Eva |e verfasserin |4 aut | |
| 700 | 1 | |a Cobo-Marcos, Marta |e verfasserin |4 aut | |
| 700 | 1 | |a Dominguez, Fernando |e verfasserin |4 aut | |
| 700 | 1 | |a Gonzalez-Lopez, Esther |e verfasserin |4 aut | |
| 700 | 1 | |a Segovia, Javier |e verfasserin |4 aut | |
| 700 | 1 | |a Lara-Pezzi, Enrique |e verfasserin |4 aut | |
| 700 | 1 | |a Garcia-Pavia, Pablo |e verfasserin |4 aut | |
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