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Análisis del fenotipo de fragilidad para evaluar el envejecimiento físico en pacientes con anemia de Fanconi.

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Title: Análisis del fenotipo de fragilidad para evaluar el envejecimiento físico en pacientes con anemia de Fanconi.
Alternate Title: Analysis of the Frailty Phenotype to Assess Physical Aging in Patients with Fanconi Anemia.
Authors: García-de-Teresa, Benilde1 b.garciadeteresa@gmail.com, Acevedo, María del Rosario1,2, Fiesco-Roa, Moisés Ó1, Becerra-Morales, Sandra Nayeli3, Medina-Vera, Isabel3, Frías, Sara1,4
Source: Acta Pediatrica de Mexico. 2026 Supplement, Vol. 47, pS12-S13. 2p.
Subjects: FRAILTY, PREMATURE aging (Medicine), MUSCULAR atrophy, PHYSICAL activity, FATIGUE (Physiology), AGING, FANCONI'S anemia, BONE marrow diseases
Geographic Terms: MEXICO
Abstract (English): BACKGROUND: Fanconi anemia (FA) is a monogenic disorder characterized by a predisposition to bone marrow failure and malignancies at a young age, conditions that are tyrpically observed in older adults in the general population. This has led to the hypothesis that FA may represent a syndrome of premature aging; however, the evidence supporting this idea remains limited. Frailty, with a prevalence of around 25% in individuals over 65 years of age, is a clinical syndrome that comprising cumulative physiological deficits associated with an increased risk of adverse outcomes. In this context, we propose that individuals with FA have a higher frequency of frailty, which could reflect accelerated biological aging. OBJECTIVE: To describe the frequency of the Fried frailty phenotype in patients with FA and to explore its association with clinical outcomes. METHODS: The five domains of the Fried frailty phenotype (weakness, slowness, muscle depletion, fatigue, and reduced physical activity) were assessed in participants from the Fanconi Anemia Registry in Mexico. RESULTS: Eighteen individuals with FA (12 women) were included, with a median age of 12 years (range: 6-38). Assessment of all domains was completed in 12/18 participants. The frequency of involvment by domain was: weakness 87% (13/15), slowness 100% (18/18), muscle depletion 73% (11/15), fatigue 28% (5/18), and reduced physical activity 83% (15/18). The frailty phenotype was identified in 61% (11/18), more than double the rate reported in the geriatric population. Frail patients presented a greater number of physical abnormalities (p = 0.008). CONCLUSIONS: The high frequency of frailty in individuals with FA, including children, supports the hypothesis of accelerated aging. Early identification of these deficits highlights the need for interventions aimed at improving functional ability and quality of life. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): ANTECEDENTES: La anemia de Fanconi (AF) es un padecimiento monogénico caracterizado por predisposición a falla medular y neoplasias a edades tempranas, manifestaciones que en la población general suelen observarse en adultos mayores. Esto ha llevado a proponer que la AF podría representar un síndrome de envejecimiento prematuro; sin embargo, la evidencia que sustenta esta hipótesis es limitada. La fragilidad, con una prevalencia cercana al 25 % en personas mayores de 65 años, es un síndrome clínico que integra déficits fisiológicos acumulativos asociados con mayor riesgo de desenlaces adversos. En este contexto, planteamos que las personas con AF presentan una mayor frecuencia de fragilidad, lo que podría reflejar envejecimiento biológico acelerado. OBJETIVO: Describir la frecuencia del fenotipo de fragilidad de Fried en pacientes con AF y explorar su asociación con desenlaces clínicos. MATERIAL Y MÉTODOS: Se evaluaron los cinco dominios del fenotipo de fragilidad de Fried (debilidad, lentitud, depleción muscular, fatiga y disminución de la actividad física) en participantes del Registro de Anemia de Fanconi en México. RESULTADOS: Se incluyeron 18 personas con AF (12 mujeres), con mediana de edad de 12 años (rango: 6-38). Se completó la evaluación de todos los dominios en 12/18 pacientes. La frecuencia de afectación por dominio fue: debilidad 87 % (13/15), lentitud 100 % (18/18), depleción muscular 73 % (11/15), fatiga 28 % (5/18) y disminución de la actividad física 83 % (15/18). Se integró el fenotipo de fragilidad en 61 % (11/18), más del doble de lo reportado en población geriátrica. Los pacientes frágiles presentaron un mayor número de alteraciones físicas (p = 0.008). CONCLUSIONES: La alta frecuencia de fragilidad en personas con AF, incluso en edades pediátricas, apoya la hipótesis de envejecimiento acelerado. La identificación de estos déficits subraya la necesidad de intervenciones dirigidas a mejorar la funcionalidad y calidad de vida. [ABSTRACT FROM AUTHOR]
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Database: MedicLatina
Description
Abstract:BACKGROUND: Fanconi anemia (FA) is a monogenic disorder characterized by a predisposition to bone marrow failure and malignancies at a young age, conditions that are tyrpically observed in older adults in the general population. This has led to the hypothesis that FA may represent a syndrome of premature aging; however, the evidence supporting this idea remains limited. Frailty, with a prevalence of around 25% in individuals over 65 years of age, is a clinical syndrome that comprising cumulative physiological deficits associated with an increased risk of adverse outcomes. In this context, we propose that individuals with FA have a higher frequency of frailty, which could reflect accelerated biological aging. OBJECTIVE: To describe the frequency of the Fried frailty phenotype in patients with FA and to explore its association with clinical outcomes. METHODS: The five domains of the Fried frailty phenotype (weakness, slowness, muscle depletion, fatigue, and reduced physical activity) were assessed in participants from the Fanconi Anemia Registry in Mexico. RESULTS: Eighteen individuals with FA (12 women) were included, with a median age of 12 years (range: 6-38). Assessment of all domains was completed in 12/18 participants. The frequency of involvment by domain was: weakness 87% (13/15), slowness 100% (18/18), muscle depletion 73% (11/15), fatigue 28% (5/18), and reduced physical activity 83% (15/18). The frailty phenotype was identified in 61% (11/18), more than double the rate reported in the geriatric population. Frail patients presented a greater number of physical abnormalities (p = 0.008). CONCLUSIONS: The high frequency of frailty in individuals with FA, including children, supports the hypothesis of accelerated aging. Early identification of these deficits highlights the need for interventions aimed at improving functional ability and quality of life. [ABSTRACT FROM AUTHOR]
ISSN:01862391
DOI:10.18233/apm.v47i1S.3441