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Not all pediatric intestinal polyps are alike
D Vermeulen1, M Van Winckel2, S Vande Velde2
1Pediatrics, Ghent University Hospital, Ghent, Belgium.
Insights
While most childhood intestinal polyps are benign, rare inherited syndromes require prompt diagnosis and management to prevent serious health risks. Early identification of genetic polyposis syndromes is crucial for reducing malignancy and mortality.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Oncology
Background:
- Intestinal polyps in children often present with painless rectal bleeding, but most are benign juvenile polyps.
- Rare inherited polyposis syndromes carry a significant risk of intestinal and extra-intestinal malignancies.
- Accurate diagnosis and management of these rare conditions are critical for patient outcomes.
Purpose of the Study:
- To review the clinical presentation and diagnosis of intestinal polyps in pediatric patients.
- To highlight the importance of identifying rare inherited polyposis syndromes.
- To emphasize the need for appropriate follow-up to mitigate cancer risks.
Main Methods:
- A retrospective database search of patients with intestinal polyps between 2016 and 2018.
- Review of patient files for clinical manifestations and histopathology.
- Literature search for red flags, genetic disorder probabilities, and diagnostic criteria for rare syndromes.
Main Results:
- The study identified 30 juvenile polyps in 28 patients, along with cases of juvenile polyposis syndrome, Li Fraumeni syndrome, and familial adenomatous polyposis (FAP).
- Different diagnoses have varying lifetime risks of malignancy, necessitating tailored management and surveillance strategies.
- Histopathology and genetic testing are vital for diagnosing these syndromes in pediatric populations.
Conclusions:
- Most childhood intestinal polyps are benign juvenile polyps requiring no specific follow-up.
- Rare inherited polyposis syndromes must be considered and diagnosed to implement adequate surveillance.
- Timely diagnosis and follow-up are essential for reducing morbidity and mortality associated with gastrointestinal and extraintestinal complications and malignancies.
Background/Aims:
In childhood, clinical presentation of intes- tinal polyps is variable. Painless rectal red blood loss is the most common presenting sign. Most polyps are sporadic, isolated and benign. However, it is important to correctly identify exceptions. Rare inherited polyposis syndromes need to be recognized because of their increased risk of intestinal and extra-intestinal malignancies. Furthermore, a correct diagnosis and treatment of rare gastro-intestinal malignancies is crucial.
Methods:
Between 2016 and 2018 we encountered 4 different types of intestinal polyps. A database search was performed and patient files were checked for clinical manifestations and histo- pathology. Literature was searched to recapitulate red flags for these syndromes, probability of underlying genetic disorders and diagnostic criteria.
Results:
Between 2016 and 2018, 28 patients presented at the Ghent University Hospital with 30 juvenile polyps. Furthermore, we diagnosed juvenile polyposis syndrome, Li Fraumeni syndrome and familial adenomatous polyposis (FAP) in 1 patient each, whilst 2 FAP patients were in follow-up. Each of these diagnoses has a different lifetime risk of (extra)-intestinal malignancy and requires a different approach and follow-up. Histopathology and genetic testing play an important role in identifying these syndromes in pediatric patients.
Conclusion:
Although most intestinal polyps in childhood are benign juvenile polyps that require no follow-up, rare inherited syndromes should be considered and correctly diagnosed since adequate follow-up is necessary to reduce morbidity and mortality from both gastrointestinal and extraintestinal complications and malignancies.
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