Polipose Adenomatosa Familiar: um estudo de caso

Abstract

This study describes a Brazilian family with Familial Adenomatous Polyposis (FAP), a syndrome of hereditary predisposition to colorectal cancer caused by pathogenic germline variants (PGV) in the APC gene. FAP is characterized by the presence of hundreds to thousands of adenomatous polyps in the colon, with a high risk of malignant transformation. The research outlines the clinical, socioeconomic, and genetic profile of a family from Alagoas, identifying the PGV c.3927_3931delAAAGA in the APC gene. Pedigree analysis revealed an autosomal dominant inheritance pattern, but the proportion of affected individuals did not correspond to expectations, possibly due to factors including late diagnosis and lack of access to medical care. Health literacy testing highlighted limitations in understanding medical information, pointing to the need for differentiated approaches in clinical communication. The molecular characterization of the PGV confirmed its association with a more severe phenotype, highlighting the importance of genotype in determining the clinical picture. Based on the findings, personalized clinical and therapeutic follow-up strategies were established for the index patient and her daughters, aiming at prevention, early detection, and treatment of complications associated with FAP. Additionally, genetic testing was implemented to identify this PGV in the Human Molecular Genetics Laboratory of the Clinical Genetics Service of the Professor Alberto Antunes University Hospital (LGMH/SGC/HUPAA). The importance of standardizing genetic testing and genetic counseling for at-risk relatives is emphasized, providing opportunities for preventive and personalized interventions. This approach not only benefits affected individuals but also contributes to reducing the socioeconomic burden and the impact of colorectal cancer on public health.