Juvenile polyposis is a genetic disease that primarily affects the digestive system. If left untreated, it can lead to the development of cancer, so it is very important not to ignore its symptoms. How is juvenile polyposis treated?
Juvenile polyposistogenetic diseaseresulting from a mutation in the SMAD4 or BMP.webpR1A genes on chromosomes 18 and 10. It is inherited in an autosomal manner dominant, which means that it occurs in the family in subsequent generations. Not only is the disease a problem in itself, it also greatly increases the risk of developing gastrointestinal cancer, especially gastric cancer and colorectal cancer.
What is juvenile polyposis?
In the large intestine, the anus, and sometimes also in the higher parts of the digestive system - in the small intestine, and even in the stomach - hamartomatic polyps form.
The risk of developing colorectal cancer in the course of juvenile polyposis ranges from 10 to 38%, while the risk of developing stomach cancer is about 21%.
Depending on how many of them there are, they have different effects on the functioning of the digestive tract. Usually - in about 75 percent of patients - polyps occur individually, but there are also patients who develop several hundred of these structures, and the greater their number, the greater the risk of cancer. It is worth adding that in juvenile polyposis, polyps can also occur in the lungs and brain. We divide the juvenile polyposis into:
- juvenile polyposis of infants
- juvenile polyposis of the large intestine
- general form of juvenile polyposis
Having one or even several polyps does not necessarily mean that the patient suffers from juvenile polyposis. For him, polyps may simply be the result of an unhe althy lifestyle. To make a diagnosis, certain criteria must be met, such as the presence of more than 5 polyps in the large intestine and rectum, the presence of polyps in other parts of the digestive system, or the presence of any number of polyps, but in a patient with a family history of this disease.
Symptoms of juvenile polyposis
Usually polyposis is detected by chance during an endoscopic examination. It happens soespecially when the polyps are small ( <1 cm). Natomiast podejrzenia odnośnie tej choroby mogą nasunąć następujące objawy:
- rectal bleeding
- frequent and profuse diarrhea
- positive occult blood test
- Unexplained microcytic anemia (iron deficiency)
- protein-loss enteropathies
- intussusception - that is, the insertion of the small intestine into another part of the intestine, usually around the cecum
- inflammation within the polyp
- eosinophilia
Some 20 percent of juvenile polyposis patients also have changes in other organs:
- Meckel's diverticula
- malrotation of the small intestine
- testicle failure
- uterine cleavage
- single kidney
- narrowing of the heart valves
- aortic stenosis
- lymphangioma
- Kostniaki
- macrocephaly
- spina bifida
- polydactyly - extra toes here
What are polyps, especially hamartomatic polyps?
Polyps are any protrusion of the mucosa above the surface, directed towards the center of the intestine. We divide them into cancerous and non-cancerous. A hamartomatic polyp, or a hamartoma, is a non-cancerous tumor. It is made up of normal tissues, but in the wrong proportion and with unordered cell distribution. Polyps usually grow little or no growth. There are several types of hamartomatic polyps, and juvenile polyps are one of them. They are found in children and adolescents.
Treatment of juvenile polyposis
A patient suspected of juvenile polyposis is referred for endoscopic examination, gastroscopy or colonoscopy. During the procedure, samples of polyps are collected for histopathological examination. Treatment can only be started when it is confirmed that they are hamartomatic tumors.
Juvenile polyposis is treated surgically, but the scope of the procedure depends on the number of lesions in the digestive tract. In the most severe cases, where there is a tendency to cancer, the affected part of the intestine is removed.
Patients after surgery are required to check blood counts for anemia and to endoscopic examination of the intestine (once a year) or stomach, depending on where the polyps were located, for neoplasms. If no new changes arise, the test interval can be extended to three years.