Diffuse familial adenomatous intestinal polyposis in childhood: current state of the problem and case report
Tetiana Shatynska1, Iryna Lembryk1, Orysia Tsytsiura1
1IVANO-FRANKIVSK NATIONAL MEDICAL UNIVERSITY, IVANO-FRANKIVSK, UKRAINE.
Insights
Familial adenomatous polyposis in children presents with varied clinical features. Genetic testing is crucial for diagnosing suspected cases in adolescents with a family history.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Oncology
Background:
- Familial adenomatous polyposis (FAP) is a rare inherited condition.
- Early diagnosis and management are critical to prevent colorectal cancer.
Objective:
Aim: To explore the prevalence, clinical characteristics, and diagnostic aspects of diffuse familial adenomatous polyposis in childhood. This objective is accomplished through an extensive review of recent literature, and the presentation of case report from our clinical practice.
Patients And Methods:
Materials and Methods: We analyzed 75 scientific papers, the findings of which have been documented in the PubMed database. Our search criteria included keywords such as ≪diffuse familial adenomatous intestinal polyposis,≫ ≪children,≫ and ≪diagnosis.≫ Then we conducted a second-stage analysis that involved a detailed review of a practical case - the medical records of inpatient Kh.V. who had been diagnosed with familial adenomatous polyposis.
Conclusion:
Conclusions: The analysis of the literature data is consistent with the findings from our clinical observations of familial adenomatous polyposis in a patient with complicated family anamnesis. It is worth noting that clinical features do not significantly differ across various types of polyposis. In cases of suspected familial adenomatous polyposis in adolescents, genetic testing is crucial.
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