The value of opthalmic examinations in familial adenomatous polyposis syndrome screening

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Report (EN)

2007 (EN)
The value of opthalmic examinations in familial adenomatous polyposis syndrome screening (EN)

Marika Syrrou, E.V. Tsianos, K.H. Katsanos,

SUMMARY The dominantly inherited gastrointestinal polyposis syndromes are divided into adenomatous and hamartomatous varieties, depending on the histology of the polyps. The justification for screening as a method of cancer prevention in inherited gastrointestinal polyposis syndromes is well established as the cancer risk in FAP patients presenting with symptoms varies from 32%-57%. Screening methods in inherited polyposis syndromes include non-invasive screening methods such as family tree, clinical examination for extracolonic malignancies, dilated fundus examination (CHRPE), DNA analysis and APC gene mutations.Invasive screening methods include endoscopy, small bowel radiography and fundus angiography. Congenital hypertrophy of retinal pigment epithelium (CHRPE) has been reported in association with familial adenomatous polyposis and Gardner syndrome and the presence of multiple CHRPE lesions has been correliated with the presence and development of polyposis in these conditions. When present, CHRPE is a reliable clinical marker. In CHRPE-negative families, negative ophthalmic examinations are of no diagnostic value. Opthalmoscopy facilitates genetic analysis because the status of CHRPE considerably facilitates locating the mutation in genetic diagnostics. Thus, the combination of an ophthalmic examination with a DNA analysis and endoscopy improves the risk assessment for carriers of inherited gastrointestinal polyposis syndromes. Children of affected patients should undergo flexible proctosigmoidoscopy beginning at 10 to 12 years of age and repeated every 1 or 2 years until 35 years of age; thereafter examinations should be performed every 3 years. Because the age at which colorectal polyps develop varies, screening by repeated bowel examination is necessary from puberty until at least 40 years of age before a family member can be considered unaffected. Basically, there are two surgical options for patients with inherited gastrointestinal polyposis syndromes; subtotal colectomy with ileorectostomy on the one hand, or total colectomy with pouch-anal anastomosis or terminal ileostomy on the other. Key words: FAP (familial adenomatous polyposis), APC gene (adenomatous polyposis coli), CRC (colorectal cancer), CHRPE (congenital hypertrophy of retinal pigment epithelium), inherited polyposis syndromes (EN)




Hellenic Society of Gastroenterology (EN)

Annals of Gastroenterology; Volume 16, No 4 (2003) (EN)

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