Characteristics and Prognosis of Wild-Type Transthyretin Amyloid Cardiomyopathy Patients Diagnosed Before 65 Years Old.
Guijarro. Damien D; Eicher. Jean-Christophe JC; Bézard. Mélanie M; Piriou. Nicolas N; Sauer. François F; Roubille. François F; Costa. Jérôme J; Réant. Patricia P; Donal. Erwan E; Bauer. Fabrice F; Bisson. Arnaud A; Bouchot. Océane O; Cariou. Eve E; Lairez. Olivier O; Courand. Pierre-Yves PY; Dagrenat. Charlotte C; Gueffet. Jean-Pierre JP; Habib. Gilbert G; Jeanneteau. Julien J; Margerit. Léa L; Oghina. Silvia S; Trésorier. Romain R; Kharoubi. Mounira M; Damy. Thibaud T
Key Findings
- Only about 5% of ATTRwt‑CM patients are diagnosed at 65 or younger.
- Early‑diagnosed patients show more extracardiac issues (especially bone/joint disease) and fewer heart‑failure signs at presentation.
- Diagnostic delay is dramatically shorter for early‑diagnosed patients (≈0.6 years) compared to older‑onset patients with delayed symptoms (≈20.5 years).
- Survival after diagnosis is better in the younger‑diagnosed group.
Practical Outcomes
- For biohackers and self‑directed health optimizers, the takeaway is that screening for ATTR‑CM might be worth considering before age 65 in people with unexplained joint or bone problems, especially if they have subtle heart symptoms. Early detection can lead to quicker treatment and better outcomes, so staying alert to this specific phenotype could be a useful addition to a longevity‑focused health protocol.
Summary
The study looked at people with a heart disease called wild‑type transthyretin amyloid cardiomyopathy (ATTRwt‑CM) who were diagnosed before age 65. It found that early‑diagnosed patients make up a small slice of all cases, tend to have more joint and bone problems, and are diagnosed much faster than older patients. Their survival after diagnosis is better than those diagnosed later.
Abstract
Guidelines recommend screening for transthyretin amyloid cardiomyopathy (ATTR-CM) after age 65 years, yet some patients are diagnosed earlier. The purpose of this study was to compare the proportion, clinical characteristics, and prognosis of wild-type ATTR-CM diagnosed ≤65 years (ATTRwt-Yy) with those diagnosed >65 years (ATTRwt-O). Data from the HEAR (Healthcare European Amyloidosis Registry), a multicenter, noninterventional, longitudinal registry, were analyzed. Patients were categorized by age at diagnosis: ATTRwt-Yy (≤65 years) and ATTRwt-O (>65 years). ATTRwt-O patients were further classified by onset of first cardiac symptom: ATTRwt-Oy (≤65 years) and ATTRwt-Oo (>65 years). From July 2021 to May 2024, 3,980 ATTR patients were enrolled; 1,417 had ATTRwt-CM with documented symptom onset. Among them, 67 (4.7%) were ATTRwt-Yy, 111 (7.8%) ATTRwt-Oy, and 1,239 (87.4%) ATTRwt-Oo. Diagnostic delays were 0.65, 20.58, and 0.77 years, respectively (P < 0.001). Heart failure signs at presentation were seen in 34.9% of ATTRwt-Yy, 8.1% of ATTRwt-Oy, and 30.2% of ATTRwt-Oo (P < 0.001). ATTRwt-Yy patients had more extracardiac manifestations, notably osteoarticular disease, whereas rhythm disturbances predominated in ATTRwt-Oy. Median follow-up from diagnosis was 36.2, 23.6, and 22.4 months, respectively. ATTRwt-Yy patients had better survival after diagnosis compared to ATTRwt-O patients. ATTRwt-CM diagnosed before 65 years shows a distinct phenotype highlighting the need for tailored diagnostic and management strategies.
Study Information
pubmed
2025
2025-11-20T00:00:00.000Z
10.1016/j.jacadv.2025.102354
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