Familial adenomatous polyposis is a disease whose inheritance is in an autosomal dominant manner. In this case, the colon is affected by polyps that result in the development of colorectal cancer.
What is familial adenomatous polyposis?
Familial adenomatous polyposis (FAP) is an autosomal dominant disease that results in the development of multiple adenomatous polyps in the colon. Thus, FAP is one of the hereditary diseases caused by genetic defects. Familial adenomatous polyposis means that children of affected parents have a more than 50 percent risk of developing the same condition if the other parent is not affected. In approximately one third of all patients, however, this indication cannot be provided. It is therefore assumed that the genetic defect is newly caused by itself. Already in adolescents, polyps form inside the intestine. Initially, they are still benign. In the further course, however, they degenerate malignantly. Thus, in the case of familial adenomatous polyposis, there is a nearly 100 percent probability that colorectal cancer will develop. FAP accounts for approximately one percent of all colorectal cancers. Familial adenomatous polyposis is considered a rare disease. It is estimated that approximately five to ten out of every 100,000 people are affected by the gene mutation.
Causes
Familial adenomatous polyposis is thought to be caused by a mutation in the APC gene. This gene takes on a significant function within the degradation complex of ß-catenin. It is also important for the assembly of the mitotic spindle. If a mutation of the gene occurs, this results in a braking of the ubitiquitination of ß-catenin. This involves the transfer of the protein ubitiquin to a target molecule. For this reason, ß-catenin is no longer properly degraded by proteasomes, causing it to accumulate and be responsible for increasing proliferation (rapid proliferation of tissue). Because mitotic spindle degradation is also involved, this results in malfunction of the APC gene, as evidenced by frequent chromosomal maldistributions. This entails malignant degeneration of the tissue.
Symptoms, complaints, and signs
The first symptoms appear in familial adenomatous polyposis at an age between 10 and 25 years. In most cases, the disease initially goes unnoticed. Later, symptoms such as constipation or diarrhea, flatulence, the discharge of blood or mucus, abdominal pain, and pain in the rectum become noticeable. Furthermore, patients often suffer from weight loss. A milder variant of FAP is attenuated familial adenomatous polyposis (AFAP). It presents later in life and is characterized by fewer polyps than FAP. However, the risk of developing colorectal cancer is ultimately as high as in familial adenomatous polyposis. Some patients sometimes have benign changes outside the colon that appear before the colon polyps form. They are considered indicative of FAP. Therefore, they should always be thoroughly investigated.
Diagnosis
If familial adenomatous polyposis is suspected, a physician should be consulted. He or she can diagnose the condition by performing a colonoscopy and taking a tissue sample (biopsy). Patients at risk are recommended to undergo regular colonoscopies from the age of 10. This usually takes place at intervals of one year. If a rectoscopy is performed, the physician looks at the lower intestinal section, which is not associated with pain for the patient. For this reason, anesthesia is not necessary even in children. Before the examination, the patient is given a mild enema. If a mild form of FAP is present, a complete colonoscopy is usually used. The same applies to a polyp finding after a rectoscopy. This procedure can be used to determine whether polyps are also present in the rest of the colon. Colonoscopy is considered more uncomfortable than rectosigmoidoscopy because pain can occur. Therefore, patients are given a sedative beforehand. Due to familial adenomatous polyposis, degeneration of the colon polyps into colorectal cancer occurs in 70 to 100 percent of all patients.This can only be avoided by surgical removal of the intestine.
Complications
Familial adenomatous polyposis can lead to various complications. In the worst case, the affected person suffers from colon cancer during the course of the disease and may die from it. The intestinal cancer itself can also lead to further complaints and complications. Unfortunately, the complaints remain unnoticed at first, so that a diagnosis cannot be made at an early stage and the disease is usually only detected by chance. It is not until adulthood that symptoms of the stomach and abdomen develop. Most patients suffer from severe flatulence, constipation and diarrhea. It is not uncommon for abdominal pain to occur. Just as often, the discharge is bloody and slimy, which can trigger a panic attack in many people. This results in weight loss and in many cases dehydration. There are no complications with the diagnosis, which is performed in the form of a colonoscopy. Treatment is then usually in the form of surgery, during which the bowel is removed. In this case, the affected person is dependent on an artificial outlet, which significantly reduces the quality of life and can lead to severe psychological discomfort. These complaints occur especially when patients are very young.
When should one go to the doctor?
In any case, this condition must be examined and treated by a doctor. If treatment is not received, the disease can lead to the development of colorectal cancer and consequently to the death of the patient. Early diagnosis thus enables early treatment and thereby also the chances of a positive course of the disease. A doctor should be consulted if the patient suffers from stomach or intestinal complaints that persist over a longer period of time. These include diarrhea or constipation in particular, although flatulence or severe pain in the abdomen may also occur. Immediate examination is necessary if the person suffers from bloody stools. As a rule, the complaints occur very frequently, but cannot be attributed to an allergy or intolerance. In most cases, the disease is diagnosed by an internist. With the help of a colonoscopy, the disease can be diagnosed relatively easily. Further treatment is also carried out in most cases by an internist or by a surgeon. However, the further course of the disease depends very much on its progression.
Treatment and therapy
Once the existence of familial adenomatous polyposis has been confirmed, the physician usually recommends removal of the colon and rectum. Three surgical procedures are available for this purpose. These include proctocolectomy with an ileopuchanal anastomosis. In this procedure, the rectum and colon are operated out while the sphincter muscle is preserved. The patient receives an artificial anus for about three months. The second method is called ileorectal anastomosis. In this procedure, the large intestine is removed along with the small intestine-rectum connection. The rectum remains in the body, while the small bowel end is sutured to the rectum. The procedure can only be performed if there are no polyps in the rectum. In proctoelectomy, which is the third method, complete removal of the colon and rectum is performed. Likewise, the sphincter muscle is removed. After the closure of the intestinal outlet, the buttocks usually retain their contour. The patient is permanently given an artificial bowel outlet.
Outlook and prognosis
The prognosis of familial adenomatous polyposis is unfavorable in a large number of cases, although there is no reduction in average life expectancy as a result of the disease. The hereditary disease is caused by a mutated gene. Since legal regulations prohibit intervention in people’s genetics as things stand, scientists and physicians cannot make any changes. This results in symptomatic treatment of the patient. This is done in a surgical procedure. Surgeries are basically associated with various risks and side effects. Complications can occur, leading to secondary diseases or discomfort. The treatment plan includes removal of parts of the intestine. If the operation is successful, the patient is usually released from the treatment as cured after a few weeks or months.The end of medical care depends on the method used. If the sphincter remains intact, the patient can be discharged as soon as the wound has healed. If an artificial anus is temporarily inserted, the treatment lasts several months. Control examinations take place at regular intervals for both methods. These must be maintained until the end of life so that changes and abnormalities are noticed as early as possible. In severe cases, an artificial anus must be permanently inserted. In this case, the patient requires lifelong medical care.
Prevention
Prevention of congenital familial adenomatous polyposis is difficult. To slow polyp growth, taking medications such as celecoxib or sulindac may be helpful. Nevertheless, the high risk of cancer persists.
Follow-up
In this disease, there are usually very few options for aftercare available to the affected person. Here, the affected person is primarily dependent on an early diagnosis so that no further complications or complaints occur. Self-healing cannot occur with this disease, so that a medical examination and treatment should always be carried out. As a rule, the affected person is dependent on a surgical intervention for this disease. After such an operation, the affected person should in any case rest and take care of his body. Efforts or other stressful and physical activities should be refrained from in order not to put unnecessary strain on the body. In many cases, the help and support of friends or family is also very important. Psychological support can also be provided to prevent psychological upsets or depression. Even after successful treatment, regular checks of the intestine are necessary in order to detect further damage at an early stage. Possibly the life expectancy of the affected person is also reduced by this disease. After the procedure, no further measures of aftercare are possible.
What you can do yourself
Familial adenomatous polyposis offers few options for self-help. The body’s natural regenerative processes are not sufficient to achieve a cure for the disease. In everyday life, attention can be paid to a healthy lifestyle so that the organism is strengthened. Since in many cases the disease leads to colorectal cancer, particular attention should be paid to a healthy intestinal flora. A balanced diet rich in vitamins, which is easily digestible and does not burden the intestines, should be consumed. Carbohydrates and animal fats should be avoided or reduced. Fiber and fresh fruits and vegetables are well digested by the body and strengthen the internal defense function. In addition, sufficient exercise and sports help, as these activities promote health. In addition to positive physical impulses, mental support is important. The psyche and the basic attitude towards life have an impact on well-being. Stress should be avoided or reduced as quickly as possible. Helpful is the use of relaxation techniques such as yoga or meditation. Inner balance is established, making it easier to deal with the disease and its symptoms. Arguments with fellow human beings should be reduced. Harmony, the exchange with social contacts and a varied leisure time activities have a positive influence on the patient.
