Familial polyposis

Familial polyposis. Familial Adenomatous Polyposis (FAP) is a hereditary disease transmitted by a mutation (defect) in a gene that is transmitted in an autosomal dominant manner. It is a clinical terminology or macroscopic description for a localized tumor or growth that protrudes from the wall into the intestinal lumen.

Summary

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  • 1 Symptoms
  • 2 Diagnosis
  • 3 Pathological anatomy
  • 4 Treatment
  • 5 General surgical considerations
  • 6 Internal links
  • 7 Sources

Symptoms

The clinical onset of the disease is insidious. At first there may be only an increased frequency of bowel movements. These progress gradually, until they become very painful diarrhea , accompanied by loss of blood and mucus . The patient is weakened by loss of blood and weight; some intestinal cramps with lower abdominal pain are also observed ; sometimes there is nausea and vomiting .

Diagnosis

It is based primarily on history and rectal and sigmoidoscopic examination. In most cases, the exam already uncovers many polyps. Rare cases have been highlighted in which, due to the field of view of the rectoscope, the existence of none was appreciated.

The radiological examination of the colon should be carried out with a double contrast technique, to check the disease in all suspected cases before undertaking the intervention. Biopsies of lesions should also be performed to determine the presence of a carcinoma and to differentiate true polyposis from pseudopolyposis resulting from an inflammatory process. The radiological picture contributes to this differentiation, since the shortening of the colon and the loss of haustral reliefs, will indicate an ancient inflammatory process.

Because the patient occasionally experiences a diffuse invasion of the intestinal tube at a higher level, it is important to obtain radiographic data of the stomach and small intestine as well .

Pathological anatomy

The macroscopic appearance of Polyposis multiplex is that of a rectum or colon strewn with myriads of polyps, often without identifiable normal intestinal mucosa between them. There are polyps of different sizes, from slight elevations of the mucosa to larger, sessile and pedicled tumors . Microscopically, the polyps of the same patient are similar and histologically belong to the type of adult papillomas or adenomas . In general, it is a safe rule of thumb that when an adult-type polyp is found in a child , developing Polyposis should be suspected.

Treatment

Treatment varies according to the age at which the diagnosis was made , the duration and severity of symptoms, and the general condition of the patient.

When a parent with multiple polyposis is found, the children become suspicious, but according to Dukes, rectoscopy in an asymptomatic child younger than 10 years can be excessively traumatic. At this age, and of course sooner, if symptoms exist , the examination should be carried out. If frank polyposis is not seen, but a solitary polyp or several disseminated polyps are found, they should be removed for biopsy. It is possible that such a process could represent an early stage of the development of a complete Polyposis, such children should be monitored and re-examined periodically, since if a polyp of an adult type is found when performing a biopsy, it must be very fundamentally suspected that Polyposis will develop .

If there are typical symptoms and a Polyposis multiplex is seen on examination, the need for surgical intervention should be considered without delay. If a rectal carcinoma already exists, or if the polyps are so numerous that they cannot be examined individually, there is no choice possible and the rectum must be removed . It is a collective criterion that after ileoproctostomy colectomy, existing polyps in the rectum may return. Their number is frequently reduced to the point of disappearing. In any case, this casual observation cannot be relied upon.

Any patient whose rectum is preserved should be carefully followed up with periodic proctoscopic exams throughout their lives. Too often the disease not only does not improve, but a carcinoma develops on the stump.

General surgical considerations

Preparing the child with general supportive measures, cleaning the intestine, and using antibiotics are essential to sterilize the intestinal contents. When practicing colectomy (the entire colon is usually affected), it is important to preserve as much of the ileum as possible, to preserve almost normal bowel function. To perform an ileorectal anastomosis, it is best to perform a direct end-to-end anastomosis. The laterolateral and terminolateral junctions do not provide as good visibility for subsequent examinations.

Examinations should continue throughout the patient’s life. If a polyp appears, it will be cauterized and, if suspected, should be biopsied. If malignant degeneration ensues, a proctectomy will be performed immediately. In these cases, it is preferred to keep the rectum, especially in children and young people. The removal of the rectum can affect the sympathetic vegetative innervation and lead to disorders of sexual function, although this is unlikely if the dissection is performed along the rectal wall.

 

by Abdullah Sam
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