How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children; the parents' experience.

Predictive genetic testing for familial adenomatous polyposis (FAP) is routinely offered to children at-risk from the age of 10 years onwards. Predictive testing for FAP at a younger age is debatable, because of absence of medical benefits. However, circumstances may arise when testing at a younger age (<10 years) is appropriate. Currently, there is a lack of published experience with predictive testing of children at this young age. We evaluated 13 children who were tested for FAP at the age younger than 10 years; 7 mutation-carriers and 6 non-carriers. Parents of these children were re-contacted and open-ended semi-structured interviewed. None of the contacted parents regretted the timing of genetic testing. The major reasons for testing at the young age were (1) testing of all children in the family at the same moment; (2) certainty for the future; and (3) preparing the child for future surveillance. None of the parents observed changes in mental or physical health in their child after testing. Also, young genetic testing did not lead to colon surveillance before it was indicated. Genetic testing for FAP at a young age is experienced as causing no harm by parents. Future studies should evaluate children's own experiences with early genetic testing.

Long-term follow-up of retrograde colonic irrigation for defaecation disturbances.

OBJECTIVE: Irrigation of the distal part of the large bowel is a nonsurgical alternative for patients with defaecation disturbances. In our institution, all patients with defaecation disturbances, not responding to medical treatment and biofeedback therapy, were offered retrograde colonic irrigation (RCI). This study is aimed at evaluating the long-term feasibility and outcome of RCI. METHODS: Between 1989 and 2001, a consecutive series of 267 patients was offered RCI. All patients received instructions about RCI by one of our enterostomal therapists. Twenty-eight patients were lost to follow-up. A detailed questionnaire was sent by mail to 239 patients. The total response rate was 79% (190 patients). Based on the returned questionnaires it became clear that 21 (11%) patients never started RCI. The long-term feasibility and outcome of RCI was therefore assessed in the remaining group of 169 patients. Thirty-two patients were admitted with soiling, 71 patients with faecal incontinence, 37 patients with obstructed defaecation and 29 had defaecation disturbances after low anterior resection or pouch surgery. RESULTS: According to the returned questionnaires, RCI was considered effective by 91 (54%) patients. Among patients with soiling and faecal incontinence, RCI was found to be effective in, respectively, 47 and 41% of the subjects. Despite of the reported effectiveness, 10 (67%) patients with soiling and 5 (17%) patients with faecal incontinence decided to stop. Among patients with obstructed defaecation and those with defaecation disturbances after low anterior resection or pouch surgery the effectiveness of RCI was found to be 65 and 79%, respectively. None of these patients ceased their therapy. The overall success-rate of long-term RCI was therefore 45%. CONCLUSIONS: Long-term RCI is beneficial for 45% of patients with defaecation disturbances. In the group of patients who considered RCI effective and beneficial, discontinuation of therapy was only observed among those with soiling and faecal incontinence.

Potato tuber proteins efficiently inhibit human faecal proteolytic activity: implications for treatment of peri-anal dermatitis.

BACKGROUND: Frequent diarrhoea after intestinal resections and faecal incontinence in healthy infants may lead to perianal injury. A causative agent may be a high concentration of pancreatic proteases in faeces. The aim of the present study was to assess whether protease inhibitors are applicable for treating and preventing peri-anal dermatitis by inhibiting the initial cause of the inflammation, the faecal proteases. DESIGN: Proteolytic activity was estimated in faeces of subjects frequently suffering from peri-anal dermatitis: patients with intestinal resections and healthy infants. The development of perianal dermatitis was studied after the construction of a reservoir with ileoanal anastomosis. The inhibitory effect of crude and partly purified potato juice on proteolytic activity of faecal output from patients with intestinal resections and healthy infants was investigated in vitro and in vivo (skin tests). RESULTS: Faecal protease activity in faeces from patients with intestinal resections and healthy infants was found to be significantly higher than in healthy adults. After the construction of an ileum reservoir, 46 of 48 patients developed a protease-related peri-anal dermatitis. The partly purified protein fraction from potatoes inhibited the larger part of faecal proteases in vitro and completely prevented skin irritation by pancreatic proteases dissolved in sterilized faecal fluid, in a 24-h skin test, on the back of healthy human volunteers. CONCLUSIONS: Potato proteins contain protease inhibitors, which suppress almost the complete proteolytic activity in faeces. Topical application of potato protease inhibitors might be a novel approach in preventing protease-induced peri-anal dermatitis, and therapeutic studies are needed to confirm our results.

Clinical value of colonic irrigation in patients with continence disturbances.

UNLABELLED: Continence disturbances, especially fecal soiling, are difficult to treat. Irrigation of the distal part of the large bowel might be considered as a nonsurgical alternative for patients with impaired continence. PURPOSE: This study is aimed at evaluating the clinical value of colonic irrigation. METHODS: Thirty-two patients (16 females; median age, 47 (range, 23-72) years) were offered colonic irrigation on an ambulatory basis. Sixteen patients suffered from fecal soiling (Group I), whereas the other 16 patients were treated for fecal incontinence (Group II). Patients were instructed by enterostomal therapists how to use a conventional colostomy irrigation set to obtain sufficient irrigation of the distal part of their large bowel. Patients with continence disturbances during the daytime were instructed to introduce 500 to 1,000 ml of warm (38 degrees C) water within 5 to 10 minutes after they passed their first stool. In addition, they were advised to wait until the urge to defecate was felt. Patients with soiling during overnight sleep were advised to irrigate during the evening. To determine clinical outcome, a detailed questionnaire was used. RESULTS: Median duration of follow-up was 18 months. Ten patients discontinued irrigation within the first month of treatment. Symptoms resolved completely in two patients. They believed that there was no need to continue treatment any longer. Irrigation had no effect in two patients. Despite the fact that symptoms resolved, six patients discontinued treatment because they experienced pain (n = 2) or they considered the irrigation to be too time-consuming (n = 4). Twenty-two patients are still performing irrigations. Most patients irrigated the colon in the morning after the first stool was passed. Time needed for washout varied between 10 and 90 minutes. Frequency of irrigations varied from two times per day to two times per week. In Group I, irrigation was found to be beneficial in 92 percent of patients, whereas 60 percent of patients in Group II considered the treatment as a major improvement to the quality of their lives. If patients who discontinued treatment because of washout-related problems are included in the assessment of final outcome, the success rate is 79 and 38 percent respectively. CONCLUSIONS: Patients with fecal soiling benefit more from colonic irrigation than patients with incontinence for liquid or solid stools. If creation of a stoma is considered, especially in patients with intractable and disabling soiling, it might be worthwhile to treat these patients first by colonic irrigation.