POLIPOSIS: causes and symptoms of polyps


Polyp: what is polyposis

In medicine, polyposis is a pathology characterized by the presence of several polyps on a mucous or serous surface, although cases of polyposis on synovial connective tissues are not rare. The polyp is an outgrowth, a neoformation, which usually has a benign character but this does not exclude that there may also be polyps of a malignant or tumor nature, but in that case the most suitable name for the growth is “carcinoma”. The formation of polyps does not occur only in the cluster form: polyps never grow exclusively in groups, but can also occur in single form on the same tissue. Polyposis is a pathology that mainly affects the colon, where statistically the possibility of polyposis is higher than in other organs. The treatment of polyposis mainly consists in the removal of polyps: surgical removal, also by laser, is the most practiced way but in some cases specific medicines may also be sufficient to induce the physiological absorption of the growth, because there are cases in which the intervention of removal of polyps is not necessary, the doctor must always evaluate the individual pathologies case by case.

Familial adenomatous polyposis (FAP)

Familial adenomatous polyposis is a type of pathology that affects the gastric system. Specifically, a condition of widespread polyposis occurs in both the colon and the rectum. One of the characteristics of familial adenomatous polyposis is the presence of a very high number of polyps, in the hundreds or even thousands.
Familial adenomatous polyposis is an autosomal dominant disease. This means that it is a type of genetic disease that is generated by an abnormal allelic dominant gene of an autosome chromosome, that is, one of those that are not involved in sexual determination. What distinguishes an autosomal dominant pathology such as familial adenomatous polyposis is the fact that it is sufficient for even one copy of the defective allele to be present for the pathology to manifest. What does it mean? In practice, there is no sexual predominance for the onset of these pathologies and it is enough that even only one of the two parents has the allelic alteration for the familial adenomatous polyposis to be transmitted to the child.
Specifically, this disease is generated due to the mutation of the gene responsible for coding the APC, the protein present in chromosome 5, which when it undergoes a mutation in its weak point (mutation cluster region) generates an excessive formation of cells which are the basis of the growth of polyps.
Statistically if one of the two parents suffers from this pathology, the child has the 50% of the possibility of acquiring it in his genetic heritage.
The diagnosis of the pathology is rather rapid, since the disease begins to show its first symptoms in pediatric age, even if the complete expression of familial adenomatous polyposis generally occurs after the age of 30. If one of the parents develops the disease, the child should undergo a specific examination (colonoscopy) at least every 6 months starting from the age of 10 or even earlier in the event that the typical symptomatic episodes of the disease such as diarrhea or constipation and abdominal pain.
The treatment must be evaluated case by case and according to the number of polyps present. However, the incidence of evolution of familial adenomatous polyposis in carcinoma is quite high, especially after the fourth decade of age. This prompts many doctors to recommend to patients a total proctocolectomy, which is an operation for the total removal of the rectum, colon and anus.

Peutz-Jeghers Syndrome (SPJ)

Peutz-Jeghers Syndrome is also an autosomal dominant disease but its incidence on the population is much lower than FAP, so much so that it is still considered a rare disease. Polyposis of the intestine is only one of the consequences of this disease, which also manifests itself with the appearance of some spots, mainly concentrated on the lips and in the mouth and with the presence of hamartoma. In general, one of the most serious consequences of the Peutz-Jeghers syndrome is the evolution of polyposis into a tumor event. This pathology results from the mutation of the STK11 / LKB1 gene.
Although in the cases examined in recent years the presence of polyps in subjects with Peutz-Jeghers Syndrome has been noted mainly in the intestine, cases in which the formations have affected the entire gastro-esophageal tract have not been rare, involving also of the esophagus.

Types of polyps

The polyposis formations have a conformation that can vary considerably and that influences their specificity.
- The hyperplastic polyp is a non-malignant growth. It is a benign polyp that has very little chance of developing into a tumor pathology. It mainly affects the intestine. They are asymptomatic and in many cases the carrier can live with them without ever becoming aware of them, unless they carry out specific tests for disorders related to other pathologies or for their evolution. It is not to be confused with the neoplastic polyp.
- The sessile polyp has a particular flat shape that makes it adhere directly to the tissue. Also in this case it is a benign polyp that has very little chance of evolving into a tumor form. They are mainly found in the intestine and their conformation makes surgical removal very difficult.
- The pedunculated polyp does not adhere directly to the wall, but protrudes from it with a sort of stem. To better explain its shape, it can be assimilated to a kind of mushroom. They are also predominantly of the benign type.
- The sentinel polyp is a particular growth that commonly (and incorrectly) takes the name of 'sentinel hemorrhoid'. It usually forms along the anal canal, generally near the fissure and is always benign in nature. It can also form in the auditory duct. It is formed when the canal is subject to long-lasting inflammation and it is for this reason that it is usually associated with the phenomenon of chronic fissures.
- The adenomatous polyp is potentially a malignant polyp, because it can easily degenerate into cancerous cells. It occurs mainly in people over 60 years of age. They are considered to all intents and purposes of the forms of neoplasia and the incidence of transformation into carcinoma depends mainly on the size. The larger the adenomatous polyp, the greater the possibility that it degenerates, because it shows marked dysplastic characteristics. They require frequent control by colonoscopy.
- Fibroepithelial polyp and fibroglandular polyp are two very common types of growths. In the first case it is about the formations of benign polyps whose removal is carried out exclusively for aesthetic reasons. The fibroglandular polyp occurs mainly in the uterus. They are generally benign neoformations that must be kept under control once identified.
- The cholesterol polyp, as the name implies, is formed in the gallbladder. It is a fairly common formation that is easily spotted with an ultrasound abdomen. It is usually a benign polyp and is generated from excess cholesterol. Only a minimal part of these formations is adenomatous.

Main sites of polyposis

- Polyps of the throat and vocal cords are one of the most frequent pathologies in otolaryngology in relation to benign tumor formations. They are usually pedunculated polyps that form in any part of the vocal cord. This involves a different vibrational capacity and, therefore, are the cause of a strong and persistent hoarseness. They usually form as a result of excessive effort when the larynx and vocal cords already have a condition of inflammation. If taken early, they can be easily treated with specific drug therapy but if too much time passes, surgical removal is necessary. These are microsurgery operations that are performed under general anesthesia conditions and are almost painless. After a few days the patient can resume his regular life. In the phase immediately following surgical excision or, in any case, drug therapy, the patient must undergo routine endoscopic checks to verify that all growths have been completely removed from the vocal cords and larynx.
- Intestinal polyps are those that affect the colon, sigma, rectum and anus. They are among the most frequent pathologies of the gastro-intestinal system and are also the polyps that can more easily transform into cancer pathologies. The areas where you are most likely to detect them are the colon and rectum. The vast majority of intestinal polyps are benign neoformations but some of these can evolve into malignant formations, for this reason it is essential to carry out periodic preventive screenings, also in consideration of the fact that about 40% of the population over 60 shows intestinal formations pretumor, the so-called adenomatous polyps. Hamartoma, the so-called hamartomatous polyps, is often formed in the intestine, ie lesions of the mucosa of a non-neoplastic type that often have a familiar nature. The risk factors for the appearance of intestinal polyps, in addition to familiarity, reside mainly in the diet. It is essential to have a diet rich in fiber, mainly deriving from whole grains and vegetables, which are able to carry out an important protective action on the intestinal mucous membranes. Excessive intake of red meats and saturated fats, on the other hand, is one of the main causes of the formation of intestinal polyps.
- Gastric polyps mainly form on the walls and mucous membranes of the stomach. They cause one of the rarest forms of polyposis and are generally asymptomatic. For this reason they are only identified if the patient undergoes an abdominal ultrasound for other reasons. This type of polyps are not usually capable of evolving into dangerous tumor forms but certain types of polyps can be one of the triggers for the appearance of tumor masses. Adenomas are the ones most likely to trigger the proliferation of cancer cells in the stomach. This pathology shows a strong incidence in patients over 50 and in those who have contracted a bacterial infection with Helicobacter pylori. This is one of the main causes of gastritis, which if not treated can lead to damage to the mucosa and, consequently, the appearance of polyps.
- Endometrial polyps are those that develop on the walls of the uterus. It is a benign growth which can be pedunculated or sessile. In some formations, the polyp comes to protrude up to the vagina: these are rather rare cases, in which the polyp should assume dimensions greater than 2cm. Endometrial polyposis is almost asymptomatic and can only be detected with a trans-vaginal gynecological ultrasound examination. If the doctor deems it necessary to intervene, the operation takes place under local anesthesia. There are rare cases that, due to the invasiveness and size of the polyps, which therefore have a high possibility of containing atypical cells, require total hysterectomy (removal of the uterus). Smaller polyps can also regress on their own.
- Ear polyps grow mainly in the middle ear canal and in most cases are caused by a chronic condition of otitis suppurativa. This pathology causes perforation of the eardrum, through which the polyp passes to reach the auditory meatus. Cases have been reported in which the size of the polyp was so large that it was visible at the entrance to the meatus. The therapy for this form of polyps is microsurgical and only slightly invasive for the patient.


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