OVERVIEW
Colorectal polyposis is a condition in which the colon is covered with a large number (usually 100 or more) of bulging lesions (both polyps and adenomas) of varying sizes. It is a less common type of colorectal disease and is distinguished from common colorectal polyps and adenomas by their number. It can be divided into neoplastic polyposis, misshapen polyposis, and other polyposis. Neoplastic polyposis includes familial adenomatous polyposis (FAP), Gardner’s syndrome, and Turcot’s syndrome. Mangiosarcoma polyposis includes Boyds-Yeager syndrome (also known as black spot polyp syndrome), juvenile polyp syndrome, multiple mismatch syndrome, and Canada-Cronkite syndrome. Other categories include hyperplastic polyposis, inflammatory polyposis, and polylymphatic polyposis.
Causes
The causes of colorectal polyposis are mostly rooted in gene mutations, gene suppression, and familial inheritance. For example, familial adenomatous polyposis and Gardner syndrome are caused by gene mutations; the causative gene for Boyds-Yeager syndrome may be a tumor suppressor gene; and Turcotte syndrome and juvenile polyposis are familial.
Symptoms
1. Familial adenomatous polyposis
(1) Early on, there may be no conscious symptoms.
(2) Blood in the stool or fecal occult blood positive, long-term blood loss can lead to iron deficiency anemia, wasting, fatigue and other symptoms.
(3) Larger polyps may cause abdominal pain, abdominal distension and other symptoms of incomplete obstruction.
(4) Rectal polyps with tips can be discharged out of the anus.
(5) Extra-gastrointestinal manifestations, such as Gardner syndrome (combined with cystic skin lesions, osteoma, fibrous tissue tumors, gastroduodenal polyps, duodenal or periampullary carcinoma, papillary thyroid carcinoma, congenital hypertrophy of retinal pigment epithelium), and Turcotte’s syndrome.
2. Ermoid tumor polyposis
(1) Juvenile polyposis: polyps are mostly round, non-tibial, with smooth surface, which can be distributed in the whole digestive tract, and there may be bleeding, mass prolapse from anus, iron deficiency anemia and other symptoms.
(2) Boytz-Yeager syndrome: multiple small bulges and large subtympanic bulges in the stomach, small in number, black spots on the lips and mouth, distributed in clusters around the mouth, eyes and nose.
(3) Multiple misshapen tumor syndrome: mainly manifested as multiple polyps in the gastrointestinal tract accompanied by facial papules, acrokeratosis and papillary lesions of the oral mucosa. Polyps are mainly distributed in the rectum, sigmoid colon and descending colon, with different sizes; white flat-like elevated small polyps can be seen in the esophagus; pimple-like polyps of different sizes can be seen in the stomach; white spots and coffee buttermilk spots can be seen on the skin and mucous membranes.
(4) Canada-Cronkite syndrome: it can be manifested as diarrhea, abdominal pain, atrophy of finger (toe) nails, alopecia, hair loss and skin pigmentation.
3. Other polyps
(1) Hyperplastic polyps: polyps with small diameter, uniform size, smooth surface without tips, and similar color with the intestinal wall; the disease has no tendency to become cancerous.
(2) Inflammatory polyps: mostly seen in Crohn’s disease and ulcerative colitis.
(3) Multiple lymphatic polyposis: it is a non-Hodgkin’s lymphoma of the gastrointestinal tract characterized by multiple broad-based polyps in the gastrointestinal tract.
Examination
Endoscopy reveals multiple polyps, which vary in shape and size from disease to disease; rectal fingerprinting reveals the rectal wall covered with a large number of polyps, diffusely distributed, which may or may not be tipped.
Diagnosis
Diagnosis can be made on the basis of family history, genetic history, history of current disease, clinical manifestations, physical examination, endoscopy and pathologic biopsy.
Treatment
Treatment is chosen according to the condition and not all colorectal polyposis require treatment. For example, hyperplastic polyposis does not have a tendency to become cancerous, and generally does not require special treatment. The treatment of familial adenomatous polyposis is aimed at eliminating polyps or slowing down the development of adenomatous polyps and blocking the occurrence of cancer. Radiation therapy is the mainstay of treatment for multiple lymphoid polyposis, and the application of high-dose radiation supplemented by bone marrow stem cell transplantation is beneficial for some patients.