Gardner's syndrome is a dangerous pathology that requires urgent treatment. Symptoms of Gardner's syndrome, treatment methods and life expectancy Gardner's syndrome symptoms in humans

There are many pathologies that are inherited and determined at the genetic level. However, some of them do not appear immediately, but only in adulthood. Gardner is among them. This pathology refers to benign neoplasms, sometimes has a tendency to become malignant, that is, it turns into cancer.

Description of Gardner's syndrome

This pathology became known relatively recently. It was first described in the mid-20th century by the scientist Gardner. It was he who established the connection between benign formations of the skin, bones and digestive tract. Another name for the disease is familial (or hereditary) adenomatous polyposis. Gardner's syndrome is scary not only because of its numerous cosmetic skin defects. It is believed that colon polyposis becomes malignant in 90-95% of cases. For this reason, the pathology is classified as an obligate precancerous condition. Differential diagnosis is carried out with atheromas, Ricklenhausen syndrome, solitary osteomas and intestinal polyps.

Causes of the disease and mechanism of development

Gardner's syndrome refers to hereditary pathologies. It is passed on genetically from parents and other family members (grandparents). Inheritance type of this disease- autosomal dominant. This means a high probability of transmitting pathology from parents to children. The mechanism of development of Gardner's syndrome is based on mesenchymal dysplasia. Since this tissue forms the skin, bones and mucous membrane of the gastrointestinal tract, a clinical picture characteristic of this disease is observed. In addition to hereditary predisposition, mesenchymal dysplasia can form under the influence of harmful factors affecting intrauterine development in the first trimester of pregnancy.

Gardner's syndrome: symptoms of the disease

Most often, the disease manifests itself in adolescence (from 10 years). In some cases, the first symptoms begin later - already in adulthood. Gardner's syndrome has the following manifestations: these are neoplasms of the skin, soft tissues, bones and digestive system. In addition to the intestines, polyps can appear in the stomach and duodenum. Atheromas, dermoid and sebaceous cysts, and fibromas can be observed on the skin. The appearance of benign soft tissue formations is also possible. These include lipomas and leiomyomas. All these tumors can occur on the face, scalp, arms or legs. In addition, bone lesions occur. They also belong to benign formations, but often complicate functions. For example, the lower jaw, skull. These growths interfere with chewing and can put pressure on brain structures. The most dangerous manifestation of the disease is polyposis of the intestine and other gastrointestinal organs. In most cases, neoplasms of the mucous membrane of the digestive tract become malignant, that is, they turn into cancer. Polyps may not make themselves felt for a long time. Most often, patients complain of complications: intestinal obstruction, bleeding.

Treatment of Gardner's syndrome in Cuba: benefits

Since the disease is an obligate precancer, surgical removal of the tumors is necessary. It is very important to diagnose Gardner syndrome in a timely manner. Photos of patients can be seen in the literature on oncology or on special websites. Besides clinical manifestations It is necessary to perform an X-ray of the digestive tract and a colonoscopy. Skin lesions and intestinal polyposis allow the correct diagnosis to be made. Gardner's syndrome is treated in many countries. The advantages of Cuban clinics include the latest equipment, the cost of surgical interventions, and highly qualified specialists from all over the world. Treatment involves removing the affected part of the intestine. You can also get rid of cosmetic skin defects.

is a hereditary disease accompanied by colon polyposis in combination with benign neoplasia of the skin, bones and soft tissues. It may remain asymptomatic for a long time. Possible bloating, rumbling and stool disorders. In some cases, intestinal polyposis is complicated by bleeding or intestinal obstruction. There is a high likelihood of developing colorectal cancer. The disease is diagnosed based on complaints, family history, examination data, radiography, CT, MRI, ultrasound, endoscopy and other studies. Treatment is endoscopic polypectomy or resection of the affected parts of the intestine.

ICD-10

D12.6 Colon, unspecified part

General information

Gardner's syndrome is a rare genetically determined pathology in which diffuse polyposis of the colon is observed in combination with benign tumors of bones and soft tissues (osteomas, fibromas, neurofibromas, epithelial cysts and other neoplasias). Polyposis in Gardner's syndrome primarily affects the rectum and sigmoid colon, however, polyps can be detected in other parts of the intestine. It was first described by the American physician and geneticist E. J. Gardner in 1951. Since then, references to more than a hundred cases of this disease have appeared in the specialized literature. The lifetime risk of colon polyps becoming malignant and developing colorectal cancer is about 95%. Treatment is carried out by specialists in the field of clinical proctology, gastroenterology, oncology, orthopedics, dentistry and maxillofacial surgery.

Causes

Symptoms

Gardner's syndrome includes a characteristic triad: diffuse polyposis of the lower parts of the large intestine, osteomas of flat and tubular bones, various benign tumors of the skin and soft tissues. With a moderate number and small size of polyps, intestinal manifestations of Gardner's syndrome may be absent or mild. In adolescence or young adulthood, patients usually turn to doctors for the first time due to the appearance of benign bone and soft tissue tumors.

Osteomas in Gardner's syndrome can be localized both in flat and in tubular bones. Often there is damage to the bones of the facial skull, accompanied by disfigurement. It is possible for teeth to shift and even fall out. Some time after the appearance, the growth of osteomas in patients with Gardner's syndrome stops, the tumors do not become malignant. Soft tissue neoplasias are very diverse. Lipomas, dermatofibromas, neurofibromas and epithelial cysts are especially common. Less common are atheromas, leiomyomas and other neoplasms. Soft tissue tumors in Gardner's syndrome are also benign, and there is no malignancy.

Colon polyps in Gardner's syndrome often become an incidental finding during gastrointestinal examinations for other reasons or are discovered during an extensive examination prescribed in connection with the appearance of multiple soft tissue and bone neoplasias. During Gardner's syndrome, three stages of intestinal damage can be distinguished. At the first stage, the disease is asymptomatic. On the second, patients note abdominal discomfort, bloating, rumbling and periodic stool disturbances. IN stool blood and mucus may be present.

At the third stage, patients with Gardner syndrome exhibit pronounced pain syndrome, constant flatulence, abundant mucus and blood in the stool, weight loss, increased fatigue, emotional lability, disturbances in electrolyte and protein metabolism. Many patients with Gardner's syndrome develop anemia caused by small but frequently recurring bleeding from the lower gastrointestinal tract. In some cases, patients develop emergency conditions requiring emergency medical care– excessive intestinal bleeding or intestinal obstruction.

Diagnostics

The diagnosis is established on the basis of family history (presence of Gardner syndrome in close relatives), clinical picture, which includes a characteristic triad, and data additional research. During a physical examination, the doctor notes the presence of multiple bone and soft tissue tumors various localizations. Some patients with Gardner's syndrome exhibit facial deformities caused by osteomas of the facial skull. When palpating the bones of the trunk and limbs, tumor-like formations of bone density may be detected. With mild lesions, the number of neoplasia may be insignificant, which makes diagnosis difficult.

On palpation of the abdomen, pain is observed in the left iliac region. At the first stage of intestinal damage this symptom may be missing. When performing a digital rectal examination, multiple nodes are detected on the rectal mucosa of patients with Gardner's syndrome. On contrast X-rays, such nodes appear as filling defects. For small nodes (less than 1 cm), the information content of contrast X-ray examination is reduced. During sigmoidoscopy, polyps are detected in the rectum and colon. The number of polyps can vary greatly.

Some patients with Gardner's syndrome have limited lesions in certain areas of the intestine. Unlike radiography, endoscopic examination makes it possible to diagnose polyps of any size, including small ones (with a diameter of 1-2 mm). To clarify the nature and extent of bone tumors in Gardner syndrome, radiography is performed. For soft tissue neoplasms, CT, MRI or ultrasound of the affected area is prescribed. If necessary, a biopsy of polyps, osteomas and soft tissue neoplasms is performed.

Differential diagnosis of Gardner's syndrome is carried out by proctologists with common multiple polyps and other forms of familial polyposis. Different variants of hereditary polyposis are characterized by certain differences in the preferential localization of polyps (damage to the entire large intestine, damage to the distal parts of the colon), the nature of pathological changes in bones and soft tissues. To clarify these differences before staging final diagnosis carry out a detailed external examination, either by forming an ileorectal anastomosis (in the absence of rectal polyps). Surgical intervention It is recommended to carry out at the age of 20-25 years. Due to the mutilating nature of the operation, young patients with Gardner syndrome often refuse this intervention. In such cases, dynamic monitoring with colonoscopy every 6-8 months is indicated.

Prognosis and prevention

With timely and adequate treatment, the prognosis for Gardner syndrome is quite favorable. The severity of the course is determined by the severity of polyposis and the location of extraintestinal tumors. Parents who have relatives suffering from this disease are advised to seek medical and genetic consultation when planning pregnancy.

– a hereditary disease accompanied by colon polyposis in combination with benign neoplasia of the skin, bones and soft tissues. It may remain asymptomatic for a long time. Possible bloating, rumbling and stool disorders. In some cases, intestinal polyposis with Gardner's syndrome is complicated by bleeding or intestinal obstruction. There is a high likelihood of developing colorectal cancer. The disease is diagnosed based on complaints, family history, examination data, radiography, CT, MRI, ultrasound, endoscopy and other studies. Treatment is endoscopic polypectomy or resection of the affected parts of the intestine.

Gardner's syndrome is a rare genetically determined pathology in which diffuse polyposis of the colon is observed in combination with benign tumors bones and soft tissues (osteomas, fibromas, neurofibromas, epithelial cysts and other neoplasias). Polyposis in Gardner's syndrome primarily affects the rectum and sigmoid colon, but polyps can be detected in other parts of the intestine. The syndrome was first described by American physician and geneticist E. J. Gardner in 1951. Since then, references to more than a hundred cases of this disease have appeared in the specialized literature.

Gardner syndrome is transmitted in an autosomal dominant manner. The severity of intestinal and extraintestinal clinical manifestations can vary greatly. The first symptoms of Gardner's syndrome usually appear in children over 10 years of age. Perhaps a late onset with the formation of the first tumors over the age of 20 years. In some cases, along with colon polyposis, osteomas and soft tissue neoplasms, polyps of the small intestine, stomach and duodenum are found in patients with Gardner syndrome. The lifetime risk of colon polyps becoming malignant and developing colorectal cancer is about 95%. Treatment is carried out by specialists in the field of proctology, gastroenterology, oncology, orthopedics, dentistry and maxillofacial surgery.

Symptoms of Gardner's syndrome

Osteomas in Gardner's syndrome can be localized in both flat and tubular bones. Often there is damage to the bones of the facial skull, accompanied by disfigurement. It is possible for teeth to shift and even fall out. Some time after the appearance, the growth of osteomas in patients with Gardner's syndrome stops, the tumors do not become malignant. Soft tissue neoplasias are very diverse. Lipomas, dermatofibromas, neurofibromas and epithelial cysts are especially common. Less common are atheromas, leiomyomas and other neoplasms. Soft tissue tumors in Gardner's syndrome are also benign, and there is no malignancy.

At the third stage, patients with Gardner's syndrome experience severe pain, constant flatulence, abundant mucus and blood in the stool, weight loss, increased fatigue, emotional lability, and disturbances in electrolyte and protein metabolism. Many patients with Gardner's syndrome develop anemia caused by small but frequently recurring bleeding from the lower gastrointestinal tract. In some cases, patients develop emergency conditions that require emergency medical care - heavy intestinal bleeding or intestinal obstruction.

Diagnosis of Gardner's syndrome

The diagnosis is established on the basis of family history (the presence of Gardner syndrome in close relatives), the clinical picture, which includes a characteristic triad, and data from additional studies. During a physical examination, the doctor notes the presence of multiple bone and soft tissue tumors of various locations. Some patients with Gardner's syndrome exhibit facial deformities caused by osteomas of the facial skull. When palpating the bones of the trunk and limbs, tumor-like formations of bone density may be detected. With mild lesions, the number of neoplasia may be insignificant, which makes diagnosis difficult.

On palpation of the abdomen, pain is observed in the left iliac region. At the first stage of intestinal damage, this symptom may be absent. When performing a digital rectal examination, multiple nodes are detected on the rectal mucosa of patients with Gardner's syndrome. On contrast X-rays, such nodes appear as filling defects. For small nodes (less than 1 cm), the information content of contrast X-ray examination is reduced. During sigmoidoscopy, polyps are detected in the rectum and colon. The number of polyps can vary greatly.

Differential diagnosis of Gardner's syndrome is carried out by proctologists and gastroenterologists with common multiple polyps and other forms of familial polyposis. Different variants of hereditary polyposis are characterized by certain differences in the preferential localization of polyps (damage to the entire large intestine, damage to the distal parts of the colon), the nature of pathological changes in bones and soft tissues. To clarify these differences, before making a final diagnosis, a detailed external examination, irrigoscopy and colonoscopy are performed.

Treatment and prognosis for Gardner syndrome

Treatment for Gardner's syndrome is only surgical. Since there is no risk of malignancy of bone and soft tissue neoplasia, the decision to perform surgical interventions is made in the presence of a cosmetic or functional defect. Colon polyposis in Gardner's syndrome is considered an obligate precancer, so many doctors consider it advisable to perform surgery before signs of malignancy appear. For a small number of polyps, endoscopic polypectomy is possible.

In Gardner's syndrome with severe diffuse polyposis, resection of the affected area of the intestine or total colectomy with ileostomy or formation of ileorectal anastomosis (in the absence of rectal polyps) is indicated. Surgical intervention is recommended at the age of 20-25 years. Due to the mutilating nature of the operation, young patients with Gardner syndrome often refuse this intervention. In such cases, dynamic monitoring with colonoscopy every 6-8 months is indicated.

Some doctors are proponents of watchful waiting and believe that colectomy for Gardner's syndrome should be performed only when signs of malignancy appear or in cases of frequently recurring bleeding with the development of anemia. Indications for emergency surgery for Gardner's syndrome are heavy intestinal bleeding and intestinal obstruction. With timely and adequate treatment, the prognosis for this disease is quite favorable. The severity of the course is determined by the severity of polyposis and the location of extraintestinal tumors. Parents who have relatives with Gardner syndrome are advised to seek medical and genetic consultation when planning pregnancy.

Polyposis syndromes

In patients with familial adenomatosis of the colon, as well as with other forms of polyposis, various extraintestinal manifestations of the disease occur, which can often be seen during an external examination of the patient. The combination of colon polyposis with other manifestations of the disease is designated as a syndrome; it usually bears the name of the author who first described it. Knowledge of these combinations (syndromes) allows a doctor of any specialty, upon detection of extraintestinal manifestations, to suspect the presence of polyps in the gastrointestinal tract, prescribe an examination of the intestines and thereby contribute to more early diagnosis polyposis and cancer. For specialists treating patients with polyposis, knowledge of these syndromes is also important, since some extraintestinal lesions themselves may require treatment, including surgery.

Gardner's syndrome - a combination of familial adenomatosis of the colon with soft tissue tumors, osteomas of the skull bones. Of the soft tissue tumors, the most common are desmoids - highly differentiated connective tissue formations. They can be localized in the anterior abdominal wall, mesentery of the small and large intestines, and sometimes in the intermuscular layers of the back and shoulder girdle. Tumors often reach gigantic sizes (a desmoid fibroma weighing more than 13 kg was removed at the State Cancer Research Center).

The presence of osteomas and soft tissue tumors should be the reason for a thorough questioning about the nature of the stool, its frequency and consistency, the presence of blood and mucus, followed by a digital examination of the rectum, sigmoidoscopy, colonoscopy, or irrigoscopy.

Allfield syndrome - combination of familial adenomatosis of the colon with cysts sebaceous glands. The discovery of epidermoid cysts, often multiple in young people, should alert the doctor and force him to undertake an examination of the gastrointestinal tract.

Turko syndrome - familial adenomatosis of the colon in combination with malignant tumors central nervous system neuroepithelial origin. The syndrome was described by Turko et al. in 1959. Experts believe that with adenomatosis of the colon, all patients need to undergo a brain examination to diagnose a possible combination of adenomatosis and tumors of the central nervous system.

Zollinger-Ellison syndrome - a combination of familial adenomatosis of the colon with tumors of the endocrine glands (most often - tumors thyroid glands s).

Peutz-Jeghers syndrome - a combination of polyposis of the gastrointestinal tract with characteristic melanin pigmentation of the mucous membranes of the lips and facial skin, often around the mouth. The spots resemble freckles, but since freckles do not appear on mucous membrane, then the presence of pigment spots on the lips immediately catches the eye. When examining the oral cavity, melanin pigmentation is also detected on the buccal mucosa.

It should be emphasized that the polyps in the described syndrome are not adenomas, they have a different structure, these are hamartomas. The stroma of polyps is a tree-like branching bundles of smooth muscle emanating from the lamina propria of the intestinal mucosa. This malformation is caused by damage to the gene, so the disease is often inherited and can be observed in members of the same family.

Polyps in Peutz-Jeghers syndrome can be of different sizes (from 0.5 to 5 cm or more). Due to the large content of muscle fibers, polyps are quite dense. According to the frequency of localization of hamartomas, the colon and ileum are in first place, followed by the large intestine and stomach. Under the influence of intestinal peristalsis, the movement of its contents, large formations pull the intestinal mucosa with them, and they can move tens of centimeters, causing intestinal intussusception, creating a picture of intestinal obstruction. The presence of hamartomas can cause intestinal bleeding. Abdominal pain and attacks of intestinal obstruction in patients with Peutz-Jeghers syndrome, as a rule, begin to bother them from early childhood.

Small polyps of the colon are removed through an endoscope; in the presence of large formations, their localization is beyond the reach of the colonoscope, a laparotomy is performed, the polyps are removed through incisions in the intestinal wall, sometimes it is necessary to resect a section of the intestine with polyps.

Hamartomas are usually not prone to malignancy, but patients with Peutz-Jeghers syndrome more often than the general population develop tumors of other organs (pancreas, thyroid, ovaries, etc.).

Cronkite-Canada syndrome. In 1947 American doctors L. Cronkhite and W. Canada described polyposis of the gastrointestinal tract in combination with extraintestinal manifestations such as atrophy of the nail plates, baldness, skin pigmentation (more pronounced around the mouth and anus) and hypoprotinemia. Polyps in this disease are located diffusely on the mucous membrane of the colon. They are not true adenomas. Histological examination reveals cystic dilated glands with epithelial atrophy without signs of dysplasia; in the stroma of the polyps there is a small infiltrate of plasma cells and eosinophils.

Patients are concerned about poor health, upset bowel movements (diarrhea), brittle nails, and baldness.

The disease is rare and most often affects middle-aged and elderly people. The causes of the disease are not yet clear.

Among skin manifestations pathological process the most common are atheromas. The disease was named in honor of its discoverer, doctor E. Gardner.

Causes of Gardner's syndrome

Cause of Gardner's syndrome is a hereditary predisposition that is inherited in an autosomal dominant manner. Thus, the patient inherits gene mutations from his parents, which leads to the formation of adenomatous polyps in the thin and. That is why the disease is also called familial adenomatous polyposis.

Symptoms of Gardner's syndrome

Main symptoms of Gardner's syndrome caused by the appearance of adenomatous polyps in the intestine. Most often, the pathological process is localized in the colon, but in some cases polyps can also be found in duodenum. Most often, neoplasms appear during puberty. By the age of 25-30, the risk of malignancy of adenomatous polyps increases significantly. The risk of transmitting mutant genes from parent to child is about 50%.

With small tumors, the patient may have nothing to worry about. In more severe cases, intestinal bleeding, concomitant iron deficiency anemia, and obstructive intestinal obstruction occur. Skin manifestations of Gardner's syndrome include atheromas, fibromas, osteomas, and lipomas. These neoplasms are benign tumors localized in soft tissues. Most often they are tumor-like formations that can cause some painful sensations in case of compression of nerve fibers. Also for this pathological condition characterized by early tooth loss.

In more than 90% of cases, adenomatous polyps in patients with Gardner syndrome become malignant. This is why early detection of signs of a malignant process is so important. At the same time, attention is paid to the appearance of stool disorders, disturbances in the shape of the stool and the act of defecation. In some cases, patients may experience such general symptoms such as weakness, fatigue, loss of appetite and body weight. The appearance of such pathological signs should alert you and force you to consult a doctor.

Diagnosis of Gardner's syndrome in Israel

If a patient is suspected of having Gardner's syndrome, the following diagnostic tests are performed:

blood analysis– allows you to identify signs iron deficiency anemia, exclude other diseases;
stool analysis– necessary to determine hidden bleeding;
– This endoscopic examination allows you to examine most of the colon. When it is carried out, polyps may be detected, indicating the presence of the disease;
biopsy– performed during a colonoscopy. In this case, samples of polyp tissue are taken with a special device. When studying the material in the laboratory, a conclusion can be made about the nature of the pathological process;
irrigoscopy is an x-ray examination in which a contrast agent is injected into the gastrointestinal tract. By taking a series of images, you can evaluate the contrast distribution through the intestines and visualize polyps;
radiography and scintigraphy of skeletal bones– aimed at identifying tumors bone tissue. Most often, pathological neoplasms in Gardner syndrome are localized in the area of the upper and lower jaws.

Treatment of Gardner's syndrome in Israel

The most effective and radical way to treat Gardner's syndrome is endoscopic polypectomy. When carrying out such an intervention, no violation of the integrity is required skin. All manipulations are carried out endoscopically, by introducing devices into the anus. The use of general anesthesia allows you to reduce discomfort from carrying out the procedure to a minimum. Using an endoscopic device, the surgeon examines the inner surface of the mucous membrane of the colon. The device is equipped with a video camera, so everything that happens inside can be seen on the monitor screen. Once polyps are detected, they are easily removed using a special loop and removed.

However, endoscopic polypectomy may not be suitable for all patients. If malignant cells are detected based on the results of a biopsy, abdominal surgery is indicated. In this case, resection of part of the intestine is performed, followed by anastomosis. This makes it possible to most radically eliminate the focus of the pathological process and prevent recurrence. In some cases, a total colectomy is indicated. This surgical intervention is aimed at complete removal colon. During this procedure, a significant part of the intestine is resected, which subsequently requires an ileostomy or ileorectal anastomosis.

If the patient refuses radical surgery, endoscopic polypectomy can be performed. If during histological examination If no malignant cells are detected from the removed tumors, the patient is advised to undergo dynamic monitoring with regular colonoscopy. If complications such as intestinal bleeding and obstructive intestinal obstruction develop, emergency surgical interventions are performed.

For patients with Gardner's syndrome, medical genetic counseling is important to reduce the risk of testing the disease in a future child. Modern technologies in vitro fertilization are aimed at selecting the most complete embryos without genetic disorders.

With proper and timely treatment, the prognosis for patients with Gardner syndrome is favorable.