Analysis of faecal neutral sterols in patients with familial adenomatous polyposis by gas chromatography-mass spectrometry.

Previous studies have suggested that patients with familial adenomatous polyposis (FAP) have increased faecal excretion of cholesterol but a reduction in cholesterol metabolites. It was consequently proposed that the degree of faecal cholesterol degradation could be used as a means of diagnosis. Developments in the extraction and analysis of faecal neutral sterols as well as the accurate means of diagnosing FAP by DNA analysis and indirect ophthalmoscopy has necessitated a re-examination of this proposal. Faecal neutral sterols were analysed in 10 patients with untreated FAP following a complete 5-day stool collection and compared with 9 healthy control subjects (including 4 siblings) closely matched for age and sex. The median [25 and 75, percentiles] stool wet weights were similar between the FAP (97.5 [69, 192] g.24 h-1) and the control (116 [61.5, 137] g.24 h-1) groups. Faecal cholesterol concentration was similar in the two groups (FAP = 2.3 [1.4, 4.2]; control = 3.5 [1.0, 6.0] mumol.g-1 dry wt) as was the concentration of total neutral sterols not including plant sterols (FAP = 17.2 [13.4, 21.0]; control = 18.2 [7.4, 21.6] mumol.g-1 dry wt). There were no significant differences in the proportions of cholesterol metabolised between the FAP (82.3 [74.2, 93.5]%) and control (72.1 [5.7, 81.3]%) groups. This study does not support the notion that faecal neutral sterol metabolism is uniquely different in patients with FAP.