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[Familial polyposis]

C Sciumé1, B Damerino, S Matranga

  • 1Dipartimento di Discipline Chirurgiche et Anatomiche, Università degli Studi di Palermo.

Annali Italiani Di Chirurgia
|March 1, 1994
PubMed
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Familial Adenomatous Polyposis (FAP) is an inherited condition causing numerous colon polyps that can become cancerous. Early screening of relatives is crucial for managing this genetic disease.

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Familial Adenomatous Polyposis (FAP) is an autosomal dominant hereditary disease.
  • Characterized by the growth of numerous adenomas in the large bowel, with a high risk of malignant transformation if left untreated.
  • The FAP gene is located on chromosome 5, region 5q 21-q22, with an incidence of 1 in 6,850 to 30,000 inhabitants.

Purpose of the Study:

  • To report the experience with a patient diagnosed with FAP.
  • To emphasize the importance of screening first-degree relatives of FAP patients.
  • To highlight the necessity of regular check-ups for at-risk individuals, especially children.

Main Methods:

  • Case report of a 40-year-old male patient with FAP.
  • Genealogical tree analysis including siblings and children.

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  • Screening examinations: hemoccult test, rectal exploration, coloscopy, and ophthalmologist visit.
  • Main Results:

    • Screening investigations for the patient's family members yielded negative results.
    • The patient's children, aged 9 and 6, were advised to undergo yearly check-ups due to their young age.
    • The study underscores the critical need for screening first-degree relatives of FAP probands.

    Conclusions:

    • Early detection and surgical intervention are vital for preventing carcinoma in FAP patients.
    • Regular screening and monitoring are essential for family members of FAP patients.
    • Proactive management of FAP can significantly improve life expectancy in affected individuals and their relatives.