El cáncer colorrectal en la poliposis adenomatosa familiar: ¿existen factores clínicos de predicción? / Colorectal cancer in familial adenomatous polyposis: Are there clinical predictive factors?

Antecedentes: La poliposis adenomatosa familiar (PAF) es un trastorno hereditario caracterizado por pólipos colorrectales múltiples que presenta un riesgo casi inevitable de cáncer colorrectal (CCR) en los pacientes sin tratar. Objetivos: Evaluar las características clínicas relacionadas con el riesgo de CCR en el momento del diagnóstico. Material y métodos: Se examinaron los expedientes clínicos de 88 pacientes para recopilar información sobre la edad, la historia familiar, los síntomas, la gravedad de la poliposis y la asociación con el CCR. Resultados: Se atendió a 41 hombres (46,6%) y 47 mujeres (53,4%). Se detectó CCR en 53 pacientes (60,2%), con una frecuencia del 9,1% entre aquellos menores de 20 años, 58% entre 21 y 40 años y 85% entre los mayores de 41 años. En el momento del tratamiento, la edad media de los pacientes sin CCR era inferior (29,5 años frente a 40,0 años; p=0,001). Un total de 58 pacientes (65,9%) notificó la existencia de antecedentes familiares, y la edad media de estos no era diferente de los que no notificaron dicha condición (33,4 frente a 34,4 años; p=0,17). Los pacientes asintomáticos representaban el 10,2% del total; en este grupo, la incidencia de CCR fue mucho menor comparada con la que presentaban síntomas (1,1% frente al 65,8%; p=0,001). En los pacientes sin CCR la duración de los síntomas era más corta (15,2 frente a 26,4 meses; p=0,03), y la pérdida de peso menos frecuente (11,4% frente al 33,9%; p=0,01). En la colonoscopia, la poliposis se clasificó como atenuada en 12 pacientes (14,3%), que presentaban una edad promedio superior (48,2 frente a 33,3 años; p=0,02) y una incidencia de CCR idéntica (58,3% frente a 58,3%; p=0,6), comparados con aquellos con poliposis clásica. Conclusiones: El riesgo de CCR en los pacientes con PAF 1) aumenta de forma significativa después de los 20 años de edad; 2) se asocia con una edad mayor así como una pérdida de peso, presencia y duración de la sintomatología superiores, y 3) es similar en los pacientes con fenotipo atenuado y clásico (AU)

Background: Familial Adenomatous Polyposis (FAP) is a hereditary disorder with multiple colorectal polyps that exhibit an almost inevitable risk of colorectal cancer (CRC) in untreated patients. Goals: To evaluate clinical features related to CRC risk at diagnosis. Material and methods: Charts from 88 patients were reviewed to collect information regarding age, family history, symptoms, polyposis severity and association with CRC. Results: 41 men (46.6%) and 47 women (53.4%) were assisted. CRC was detected in 53 patients (60.2%), with a frequency of 9.1% under 20 years, 58% between 21–40 and 85% over 41 years of age. Average age of patients without CRC was lower at treatment (29.5 vs. 40.0 years; p=0.001). Family history was reported by 58 patients (65.9%), whose average age did not differ from those who didn’t report it (33.4 vs. 34.4;p=0.17). Asymptomatic patients comprised 10.2% of the total; in this group, CRC incidence was much lower when compared to those presenting symptoms (1.1% vs. 65.8%; p=0.001). Patients without CRC presented a shorter length of symptoms (15.2 vs. 26.4 months; p=0.03) and less frequent weight loss (11.4% vs. 33.9%; p=0.01). At colonoscopy, polyposis was classified as attenuated in 12 patients (14.3%), who presented greater average age (48.2 vs. 33.3 years; p=0.02) and equal CRC incidence (58.3% vs. 58.3%; p=0.6) when compared to those with classic polyposis. Conclusions: The risk of CRC in FAP patients 1) increases significantly after the second decade; 2) is associated with higher age, weight loss, presence and duration of simptomatology; 3) is similar in patients with attenuated or classic phenotype (AU)

[Colorectal cancer in familial adenomatous polyposis: Are there clinical predictive factors?]. / El cáncer colorrectal en la poliposis adenomatosa familiar: ¿existen factores clínicos de predicción?

BACKGROUND: Familial Adenomatous Polyposis (FAP) is a hereditary disorder with multiple colorectal polyps that exhibit an almost inevitable risk of colorectal cancer (CRC) in untreated patients. GOALS: To evaluate clinical features related to CRC risk at diagnosis. MATERIAL AND METHODS: Charts from 88 patients were reviewed to collect information regarding age, family history, symptoms, polyposis severity and association with CRC. RESULTS: 41 men (46.6%) and 47 women (53.4%) were assisted. CRC was detected in 53 patients (60.2%), with a frequency of 9.1% under 20 years, 58% between 21-40 and 85% over 41 years of age. Average age of patients without CRC was lower at treatment (29.5 vs. 40.0 years; p=0.001). Family history was reported by 58 patients (65.9%), whose average age did not differ from those who didn't report it (33.4 vs. 34.4; p=0.17). Asymptomatic patients comprised 10.2% of the total; in this group, CRC incidence was much lower when compared to those presenting symptoms (1.1% vs. 65.8%; p=0.001). Patients without CRC presented a shorter length of symptoms (15.2 vs. 26.4 months; p=0.03) and less frequent weight loss (11.4% vs. 33.9%; p=0.01). At colonoscopy, polyposis was classified as attenuated in 12 patients (14.3%), who presented greater average age (48.2 vs. 33.3 years; p=0.02) and equal CRC incidence (58.3% vs. 58.3%; p=0.6) when compared to those with classic polyposis. CONCLUSIONS: The risk of CRC in FAP patients 1) increases significantly after the second decade; 2) is associated with higher age, weight loss, presence and duration of simptomatology; 3) is similar in patients with attenuated or classic phenotype.