Diffuse familial polyposis is a hereditary disease characterized by the presence of a large number of polyps in the large intestine, sometimes throughout the gastrointestinal tract. It manifests itself at a young age. The main symptoms are abdominal pain, chronic diarrhea, the presence of mucus and blood in the feces, bleeding from the rectum; later anemia and weight loss are added. The disease almost always ends with malignancy. It is diagnosed by rectoromanoscopy, irrigoscopy, colonoscopy with biopsy of suspicious elements, molecular genetic studies. Treatment is only surgical – resection of the affected area of the intestine.
ICD 10
D12.6
General information
Diffuse familial polyposis (familial adenomatosis of the colon) is a hereditary disease with a high risk of malignancy, which is manifested by polypous lesions of the large intestine with frequent involvement in the process of other parts of the gastrointestinal tract. The disease has been known for a long time, its hereditary nature was first described by Gripps in 1889. The prevalence in the population is low, according to various data – one case per 8-14 thousand population.
The risk of the disease increases sharply among relatives of patients with diffuse familial polyposis. Approximately half of them show changes in the large intestine during examination, even if there are no obvious clinical symptoms. Pathology occurs on all continents, men and women get sick with the same frequency. To date, diffuse familial polyposis has been well studied, including genetic mutations that lead to its occurrence. Since in 100% of cases the disease ends with colorectal cancer, the problem is urgent, despite its small prevalence. Proctology is engaged in the study of intestinal polyposis.
Causes
The cause of familial diffuse familial polyposis is a mutation in a gene that is located on the long arm of the fifth chromosome. The gene is responsible for the normal proliferation of the mucous membrane of the gastrointestinal tract. The defect leads to uncontrolled proliferation of epithelial cells, the proliferation of individual areas of the mucous membrane and the appearance of multiple polyps.
Pathogenesis
Polyps with diffuse familial polyposis have different sizes and structures: some are small, up to one centimeter, have a predominantly glandular structure, others are more than a centimeter in diameter, with a villous surface and a lobed structure. Polyps can be located on a broad basis or on a leg, they often merge, there is practically no normal mucous membrane at the confluence sites. Malignancy in adenomatous polyps is detected in approximately 30% of cases. Villous polyps turn into a malignant form twice as often. A sign of malignancy is an increase in the polyp, the unevenness of its surface, a change in color, the appearance of ulceration. It is believed that the occurrence of cancerous tumors with diffuse polyposis is only a matter of time.
Classification
Specialists in the field of clinical proctology use classifications of diffuse familial polyposis, taking into account morphological changes in the mucosa, the prevalence of the process, and the clinical course. According to morphological signs, adenomatosis is divided into the following forms: adenomatous (polyps of small, mainly glandular structure); proliferative (polyps of large size, with lobular structure, covered with villous epithelium); mixed (includes signs of adenomatous and proliferative forms). Diffuse familial polyposis begins mainly with an adenomatous form, then passes into a mixed one. Isolated proliferative form is rare. According to the degree of spread, diffuse familial polyposis is divided into:
- classic diffuse polyposis with lesions of the large intestine and rectum;
- Gardner syndrome (intestinal damage and soft tissue tumors);
- Peitz-Jaegers syndrome (total defeat of the gastrointestinal tract, pigmented spots around the mouth and on the cheeks).
- According to the clinical course, diffuse polyposis is divided into classic, severe, weakened, or attenuated.
Symptoms
Clinical manifestations of diffuse familial polyposis largely depend on the form of the disease. So, with a severe course and the Peintz-Jaegers syndrome, the first symptoms appear in children from six to twelve years old. The child constantly complains of abdominal pain, eats poorly, does not gain weight, lags behind in growth and physical development. Periodically, he has diarrhea with mucus, sometimes streaks of blood are visible in the feces. On examination, the pallor of the skin is noted, pigmented spots around the mouth and on the cheeks can be noticed. The abdomen is soft, painful, subcutaneous tissue is poorly developed. Diffuse familial polyposis is constantly progressing, and by the age of 18-20, polyps degenerate into malignant tumors.
The classic form of diffuse familial polyposis is diagnosed at a young age, about twenty years old, although the first symptoms may appear in adolescents. As with severe course, patients complain of abdominal pain, diarrhea with mucus and streaks of blood, loss of appetite and weight loss, body temperature may periodically rise. Gradually, the manifestations of anemia increase in patients, the amount of protein in the blood decreases, which may be accompanied by protein-free edema. The skin is pale, the abdomen is painful, soft. With a finger rectal examination, a proctologist can identify multiple polyps in the rectum, sometimes they even fall out of the anus. The first signs of malignant degeneration of polyps appear around the age of thirty. Every ten years, the risk of malignancy increases more than twice.
A weakened or attenuated form of diffuse polyposis is clinically manifested for the first time in 40-45 years. The symptoms are the same as in the previous two cases, they may be less pronounced. The first cancerous tumors are detected around the age of fifty. A special form of diffuse polyposis, described as Gardner’s syndrome, is combined with tumors of soft tissues, intermuscular membranes and osteomas of the skull. Sometimes it is possible to detect malignant neoplasms in the adrenal glands and thyroid gland, sebaceous gland cysts (Allfield syndrome), as well as brain tumors (Turko syndrome). Many patients with Gardner syndrome turn to doctors for the first time precisely about malignant tumors of different localization, and diffuse familial polyposis becomes a random finding during a general examination.
Complications
The most common complication of diffuse polyposis is malignancy, which occurs in almost all patients. Inflammatory diseases of the large intestine are also possible. Bleeding with diffuse polyposis is rarely profuse, but constant blood loss, even in small amounts, gradually leads to the development of iron deficiency anemia. Disorders of digestion and absorption of nutrients cause weight loss, loss of physical activity, protein starvation, a significant decrease in the quality of life.
Diagnostics
With diffuse polyposis of the colon and rectum, the diagnosis can be established already during anoscopy or rectoromanoscopy. These techniques allow you to see all parts of the rectum and the distal section of the sigmoid. Further examination of patients with diffuse polyposis includes irrigoscopy with double contrast. The method allows you to identify the extent of the spread of the process in the large intestine, pre-determine the localization of possible formations with malignant degeneration. Irrigoscopy is also indicated for violation of the patency of the large intestine. The next examination is a colonoscopy, which allows you to examine the intestinal mucosa in more detail, to identify suspicious polyps. During colonoscopy, multiple biopsies of polyps with signs of malignant degeneration are necessarily performed.
In the general blood test, there are signs of anemia, with cancer and inflammation, ESR increases significantly. In the biochemical analysis of blood, there is a decrease in the amount of protein. Molecular genetic research allows you to identify a defective gene and establish a final diagnosis.
It is necessary to differentiate diffuse polyposis in childhood, first of all, with dysentery and congenital diverticula. Adult patients with the first symptoms of diffuse polyposis are also often admitted to an infectious diseases hospital. And only after bacteriological sowing, which excludes dysentery, they undergo a rectoromanoscopy, colonoscopy and make the correct diagnosis. The disease should be distinguished from single polyps (up to 10 pieces) of the large intestine, false polyps and granulomas in nonspecific ulcerative colitis, primary colon cancer that occurs in old age. Family history is of great importance in the diagnosis. If relatives of patients with diffuse polyposis enter the proctology department or an infectious hospital with similar symptoms, in most cases they are diagnosed with the same disease.
Treatment
There is no conservative therapy for familial adenomatosis, treatment is only surgical. If the disease is detected, the operation is mandatory, since sooner or later the polyps will degenerate into malignant tumors. At the initial stages, when only the distal parts of the large intestine are affected and there are no signs of malignancy, it is possible to resect the sigmoid and rectum (proctosigmoidectomy) with the preservation of the sphincter.
If diffuse familial polyposis spreads to the proximal parts of the large intestine, but has not yet turned into a malignant form, the following operations are indicated: colectomy and the creation of an ileorectal anastomosis, subtotal colectomy or hemicolectomy with ascendorectal anastomosis, subtotal hemicolectomy with abdominal anal resection of the rectum and bringing the ascending colon to the anus. All these operations are performed with the preservation of the anal sphincter, which makes it possible for a patient with diffuse polyposis to lead a more or less active lifestyle. When detecting cancerous tumors in the intestine, it is necessary to perform a total colectomy without preserving the sphincter and removing an ileostomy to the anterior wall of the abdomen.
Prognosis and prevention
Since all patients with diffuse familial polyposis are diagnosed with cancer sooner or later, the prognosis of the disease is unfavorable. Despite the fact that the causes of familial adenomatosis have been studied quite well, there is currently no effective prevention of the disease. It is mandatory to examine all relatives of the patient, including children aged 10-12 years. Geneticists recommend starting the examination of the patient’s family members with a molecular genetic analysis to identify specific mutations in the genome.
