Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis

Familial adenomatous polyposis is an autosomal dominant disease characterised by the development of hundreds of colorectal adenomas in young adults. Occult radio-opaque jaw lesions and pigmented ocular fundus lesions (formerly called congenital hypertrophy of the retinal pigment epithelium) are extr...

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Bibliographic Details
Published in:	Gut 1991-10, Vol.32 (10), p.1170-1174
Main Authors:	Giardiello, F M, Offerhaus, G J, Traboulsi, E I, Graybeal, J C, Maumenee, I H, Krush, A J, Levin, L S, Booker, S V, Hamilton, S R
Format:	Article
Language:	eng
Subjects:	Adenomatous Polyposis Coli - complications Adenomatous Polyposis Coli - diagnosis Adenomatous Polyposis Coli - genetics Adolescent Adult Aged Biological and medical sciences Child Eye Diseases - etiology Female Fundus Oculi Gastroenterology. Liver. Pancreas. Abdomen Humans Hypertrophy - etiology Jaw - diagnostic imaging Jaw Diseases - diagnostic imaging Jaw Diseases - etiology Male Medical sciences Middle Aged Phenotype Pigment Epithelium of Eye Radiography Sensitivity and Specificity Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors
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Summary:	Familial adenomatous polyposis is an autosomal dominant disease characterised by the development of hundreds of colorectal adenomas in young adults. Occult radio-opaque jaw lesions and pigmented ocular fundus lesions (formerly called congenital hypertrophy of the retinal pigment epithelium) are extraintestinal phenotypic markers for this disorder. We evaluated the usefulness of the combination of these markers for identifying patients who have inherited familial adenomatous polyposis. Forty three affected patients and 12 unaffected first degree relatives from 24 families with familial adenomatous polyposis, including four families without extraintestinal manifestations, were examined for both phenotypic markers. Thirty three of the 43 patients (77%) with familial adenomatous polyposis were positive for both markers, including patients from two families without extraintestinal manifestations. By contrast, only one of 12 (8%) unaffected first degree relatives over 35 years of age had both markers. The sensitivity of the combination of these markers in identifying patients who inherited familial adenomatous polyposis was 77%, the specificity 92%, the predictive value of a positive test 97%, the predictive value of a negative test 52%, and the efficacy 80%. The combined markers had improved efficacy over either marker alone (70% for occult radio-opaque jaw lesions and 67% for pigmented ocular fundus lesions). We conclude that the presence of both occult radio-opaque jaw lesions and pigmented ocular fundus lesions in a person at risk indicates a high probability of inheritance and expression of familial adenomatous polyposis.
ISSN:	0017-5749 1468-3288