Mario Trompetto M.D., Giuseppe Clerico M.D., Ezio Ganio M.D., Alberto Realis Luc M.D.
Surgical approach to juvenile gastrointestinal polyposis
Colorectal Eporediensis Centre – Unit of Coloproctology – Ivrea – Italy
Familial adenomatous polyposis and Gardner syndrome are rare dominantly inherited syndromes characterized by hundreds to thousands of colonic adenomatous polyps. Colonic cancer occurs at a young age in both of them unless the colon is removed. Peutz-Jeghers syndrome and familial juvenile polyposis are inherited hamartomatous polyposis conditions with a low but well defined risk of colonic cancer. These four polyposis syndromes together account less than 1% of cases of colonic malignancies.
Familial juvenile polyposis is an autosomal dominant condition in which affected patients develop upper or lower gastrointestinal juvenile polyps, or both, and have a high possibility to develop a cancer of the gastrointestinal tract. Up to date the risk of G1 cancer in these patients has not been well defined because of the small number of families and lack of follow-up.
Single or few polyps can be frequently found in patients of any age and can occur also in infancy.
Polyps in children are classified as malignant or benign (tab. 1).
Table. 1. Pediatric tumors of the GI tract.
| ||mnNon familial|
| ||mnmnNon polyposis|
|Non polypoid|| |
Isolated inflammatory polyps (juvenile or retention polyps) are the most frequent and occur often in the first decade of life, particularly between 3 and 4 years of age. Some studies confirm their presence in 1% to 2% of children of this age. More than 60% of them are localized in the distal part of the colon or in the rectum.
Juvenile polyposis coli is characterized by multiple inflammatory polyps in the colon in contrast with generalized juvenile polyposis in which polyps can be found anywhere in the gastrointestinal tract.
Histologically juvenile polyps are hamartomas with distended mucus filled glands, oedema, cystic dilation and multiple blood vessels. The mucus retention and criptic dilation give them also the term of retention polyps.
Endoscopically they appear as pedunculate red polyps with a frable, ulcerated surface and often bleeding. The presence of a peduncle is the only reliable distinction between a juvenile and a Cronkhite-Canada polyp.
Painless rectal bleeding and rectal prolapse in the first decade of life are the most common clinical features of juvenile polyposis coli while in the generalized juvenile polyposis the symptoms are more severe including not only haemorrhage and possible intussusception but also diarrhoea, disturbances of the electrolytic balance, anaemia, hypoalbuminemia, delay in growth.
When the disease occurs in infancy many concomitant abnormalities can be found as digital malformations or different kinds of encephalopathies. In these cases the polyposis is only a part of a very complicated condition that can bring to death more than 80% od the affected children.
The choice to perform a surgical treatment for gastrointestinal juvenile polyposis but particulary for the juvenile polyposis coli is always matter of discussion becaue of the poor knowledge about the evolution of the disease. An isolated juvenile polyp cannot be considered a precancerous condition also if some histological changes can represent a good reason to consider selected cases of juvenile polyps as dangerous as FAP. If this, up to date, is not fixed for the simple juvenile polyposis coli, the risk of gastrointestinal malignancy in members of families affected by familial juvenile polyposis is well established and warrants frequent endoscopic screening of both affected and at-risk family members. All we hope that this screening will be soon facilitated by presymptomatic testing for the identification of the specific gene carriers.
The rationale for a close endoscopic surveillance program or the decision for a surgical approach for the juvenile polyposis coli is suggested by isolated reports suggesting the potential malignancy of some of this polyps.
The presence of dysplasia of the glandular epithelium can be considered as a marker of potential malignancy but a real association between juvenile polyposis and colorectal cancer is to be demonstrated, appearing the development of cancer in juvenile polyposis to be a random event.
A close endoscopic follow-up with a careful histological examination must be considered the first stepse to select the patients at risk for malignancy.
We must remember that:
– Juvenile polyposis can occur at any age.
– Adenomas do exist in pediatric patients.
– Not all polyps in patients less than 20 years of age are automatically juvenile polyps and, therefore, benign.
– In multiple polyposis, the finding that one polyp is of the juvenile type does not rule out the presence of adenoma.
– Any patient with a solitary adenoma who has multiple polyps, whether adenoma or juvenile, needs colonoscopic examination at precise intervals.
Prophylactic colectomy is required only in cases in which endoscopic surveillance is not able to control polyps development.
The possibility of development of a malignancy is higher in the generalized juvenile polyposis and in these cases the surgical treatment is mandatory.
Subtotal colectomy with ileorectal anastomosis is the operation of choice in cases in which surgery is required.
Restorative proctocolectomy can be considered in selected cases in which the rectum cannot be carefully examined and/or polyps rapidly develop in it.
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