Familial colon polyposis is a rare hereditary disease in which multiple adenomatous polyps develop in the large intestine. It is manifested by pain, rapid stools, an admixture of blood in the feces, anemia, pale skin and increased fatigue. There is a high probability of malignancy. Along with neoplasia of the large intestine, tumors of bones and soft tissues can be detected in familial polyposis of the colon. When making a diagnosis, complaints, physical examination data, irrigoscopy, rectoromanoscopy and colonoscopy with biopsy are used. Treatment – colectomy with the formation of an ileoproctoanastomosis or the imposition of an ileostomy.
Information
Familial colon polyposis is a genetically determined pathology characterized by the presence of multiple colon polyps. The number of polyps can range from hundreds to thousands or more. In the absence of treatment, there is a mandatory malignancy. One out of 6-12 thousand inhabitants of the Earth suffers from familial polyposis. There are several subspecies of the disease, all of them, regardless of the clinical manifestations and the type of adenomatous polyps, end in the formation of adenocarcinoma.
The first signs of familial colon polyposis usually occur in adolescence, malignancy is observed after 30-40 years. There may be an aggressive course with the appearance of the first symptoms at preschool age and malignancy at the age of 30, as well as an erased course with the formation of a clinical picture after 40 years and malignancy after 50 years. The treatment is carried out by specialists in the field of oncology, gastroenterology and abdominal surgery.
Causes
The disease is transmitted by an autosomal dominant type, due to a mutation of the ARS gene located in the long arm of chromosome 5. Both men and women are ill. Accompanied by the formation of a large number of polyps of the same type or different structure. Large and small polyps with a wide base, a short or long leg, a villous or lobed surface can be detected. With the predominance of large polyps, there is a higher probability of malignancy.
Specialists distinguish various groups of familial polyposis of the colon, taking into account the presence or absence of extra-intestinal manifestations of this disease. The most common variant is Gardner’s syndrome, in which colon polyposis is combined with soft tissue neoplasms, osteomas and osteofibromas. In most cases, extra-intestinal neoplasia is benign. The prevalence of combined forms of familial colon polyposis is still questionable. Presumably, isolated intestinal lesions are observed in 25% of cases, a combination with extra–intestinal tumors – in 75% of cases. The most common extra-intestinal manifestation is bone neoplasia, occurring in 80% of patients with combined forms of the disease. Cysts are diagnosed in 35%, desmoid tumors – in 18% of patients.
Symptoms
In most cases, the first symptoms of familial polyposis occur at the age of 15-19 years. With an aggressive course, the disease manifests at the age of 5-6 years, with a weakened (attenuated) form – at the age of over 40 years. Patients complain of abdominal pain and frequent stools up to 5-6 times a day. Pain syndrome in familial polyposis of the colon is very diverse, pain can occur mainly in the upper or lower abdomen, be aching, twisting, acute, etc. Gastric discomfort is possible, because of which specialists sometimes focus on the examination of the upper gastrointestinal tract. Impurities of blood and mucus are detected in the feces. Heavy bleeding rarely develops.
A few years after the manifestation of familial colon polyposis, the number of polyps increases, they become larger. The presence of numerous tumors causes disorders of absorption and secretory processes. Traumatization of more numerous and larger polyps than before causes increasing blood loss. As a rule, this stage of the family polyposis of the colon falls during the period of increasing the burden on the patient’s body: young men go to the army, girls get pregnant and give birth to children, which further aggravates the violations listed above. There is weakness and increased fatigue. Anemia develops.
Subsequently, familial colon polyposis proceeds relatively stably. The deterioration of the patient’s condition may be due to a further increase in the number of polyps or the occurrence of extra-intestinal neoplasia. With malignancy of polyps, symptoms of oncological disease occur. The condition of patients with familial colon polyposis is destabilized, there is an aggravation of anemia, weight loss, hyperthermia and pronounced pallor of the skin. Patients complain of intense pain. When the tumor disintegrates, profuse bleeding may occur. When the intestinal lumen narrows, symptoms of intestinal obstruction occur.
Diagnostics
Due to the low severity of the clinical symptoms of this disease in adolescence and adolescence, timely diagnosis is of particular importance, followed by regular monitoring and decision-making on carrying out one or another surgical intervention before the onset of polyp malignancy. When collecting anamnesis, pay attention to the characteristic symptoms (rapid stools, anemia, blood and mucus in the feces), family history (the presence of relatives with familial polyposis of the colon) and extra-intestinal manifestations of the disease.
In some cases, polyps can be detected already at the stage of rectal examination. To assess the condition of the lower intestine and determine the severity of familial polyposis of the colon, a rectoromanoscopy is performed. Then a colonoscopy is performed. In the process of endoscopic examinations, attention is paid to larger cherry or bright red nodes with a loose or lobed surface (villous polyps), since such tumors are characterized by an increased likelihood of malignancy.
Along with endoscopy, patients with familial polyposis of the colon are prescribed irrigoscopy, which acquires special diagnostic significance in the presence of circular neoplasms that prevent the advancement of the endoscope. Patients are referred for fibrogastroduodenoscopy, since familial colon polyposis is often accompanied by gastritis or gastric polyposis. To detect extra-intestinal manifestations of the disease, an external examination is carried out. With bone neoplasia of patients, radiography and CT are performed, with soft tissue – MRI of the affected part.
Treatment and prognosis
The only method of treating this disease is surgery. Since familial polyposis refers to obligate precancers, the operation is aimed at the complete removal of the parts of the colon affected by polyps. The most reliable way to prevent colon cancer in these conditions is the complete removal of the colon and the formation of a permanent ileostomy before the appearance of signs of malignancy. This approach, for obvious reasons, usually does not suit young active patients with familial colon polyposis, so the question of the timing and scope of the operation remains debatable.
Polyp-free areas are preserved. In the presence of single nodes in individual segments, endoscopic removal of neoplasms is performed. Then, resection of all affected parts of the intestine is performed (in practice, this usually means removing most of the intestine). If possible, they try to preserve the sphincter of the anus. The operation of choice for familial colon polyposis can be colectomy with ileorectal anastomosis, subtotal resection of the colon and rectum with the reduction of the colon to the anal canal zone, etc. With malignancy and complete intestinal lesion, colectomy is required in combination with extirpation or abdominal anal resection of the rectum and ileostomy.
In the absence of treatment, the prognosis for familial colon polyposis is unfavorable. Over time, one or more polyps transform into malignant neoplasms. Before the appearance of signs of malignancy, sphincter–preserving surgery can be performed in 85% of cases, after the appearance of symptoms of cancer – in 30% of cases. All patients who have undergone surgical interventions for familial colon polyposis should be monitored at a dispensary. Patients regularly undergo endoscopic examinations for the timely detection of malignating polyps in the preserved parts of the intestine. Tests are prescribed to assess the state of protein and salt metabolism.