Last updated on May 4, 2019 at 15:00
Congenital malformations of the colon
This malformation is the lack of neurons and ganglion cells of the myenteric (Auerbach) and submucous (Meissner) plexus. The most prominent symptom is constipation, followed by vomiting, abdominal pain, diarrhea and slow growth.
This malformation has different names depending on where it affects:
- Hirschsprung’s syndrome is located in the rectum and the sigmoid colon. The major threats for life in new-borns with this are enterocolitis, fluid and electrolyte disturbances, perforation and peritonitis.
Treatment requires surgical resection of the aganglionic part of the colon and anastomosis between the normal parts.
- Long segment aganglionosis includes the rectosigmoid and the proximal colon
- Zuelzer-Wilson syndrome includes the total colon and rectum.
Diverticular disease refers to pseudodiverticular outpouchings that are acquired in the colonic mucosa and submucosa. The diverticula are usually multiple, and the conditions is known as diverticulosis. If the diverticula are inflamed, its known as diverticulitis.
Colonic diverticula develop under conditions of high intraluminal pressure in the sigmoid colon, and since the colon has the muscle layer gathered at some places as teniae coli, this increased pressure may result in diverticula where the muscle isn’t present. Exaggerated peristaltic contractions due to diet low in fibre may lead to high luminal pressure. In the western countries, as many as half of the population over 60 years may have this, while the prevalence in Japan and developing countries is much lower. This difference is due to the reduced fibre intake in the well-developed countries.
To avoid this pressure to take place, its recommended to eat fibre (fresh fruits and vegetables, pasta etc.) and to change the way of sittin’ on the toilet (see the figure below).
The diverticula occur mostly in the sigmoid colon but can appear in the whole colon.
This condition is often asymptomatic. However, if the symptoms appear, the symptoms are usually:
- Intermittent abdominal pain in the left lower quadrant
- Bloating and flatulence (farting)
- Fresh blood in the stool without weight loss
Even though diverticulitis isn’t considered a dangerous disease, some complications may appear:
- Segmental colitis
- Phlegmonous wall infection
- Abscess formation
Diverticulitis may lead to perforation. This may allow colonic bacteria to enter the peritoneum, where peritonitis may cause sepsis.
In the colon, ischemia leads to a gangrenous infarction if its severe enough, which can further develop into perforation and sepsis.
90% of all cases occur in patients that are over 60 years old and often together with other morbidities, such as cardiovascular disease. It affects younger people if they had abdominal surgery.
The ischemia can be occlusive or non-occlusive, depending on the cause, like ischemia of the small intestines. The causes can be studied in the previous topic.
Vascular diseases of the colon
Angiodysplasia is a small vascular malformation in the gut. It’s the second most common cause for bleeding from the lower GI-tract after diverticulitis. The incidence increases with age, and affects usually the right colon, but can occur anywhere in the bowels. This manifests as rectal bleeding which occur episodically.
Polyps of the colon and rectum
As we know from the previous topics, polyps are tumor-like lesions. In the colon, where the polyps are commonly seen, we can find several polyps:
- Hyperplastic polyps, also known as serrated lesions
- Sessile serrated polyps
- Juvenile hamartomas
- Peutz-Jeghers hamartomas
- Colorectal adenomas
- Familial adenomatous polyposis
We will study each in detail in this topic.
1. Serrated lesions/hyperplastic polyps
These kinds of polyps are very frequent and are basically a result of increased epithelial cell turnover and delayed shedding of the surface of the epithelium. This leads to a pile-up of goblet cells, and the mucus production increases in these areas. They are often found in rectum and sigmoid colon and are not malignant. There are usually no symptoms either.
2. Sessile serrated adenoma/polyp
The histological features of these polyps overlap with the hyperplastic ones, but these actually have malignant potential. To distinguish them histologically, the sessile serrated polyps have a serrated appearance in the whole gland. These polyps are often found in the right colon.
3. Juvenile hamartomas
The juvenile hamartomas are the most common type of hamartomas and can occur in any age. However, they are mostly found in the rectum of children younger than 5 years.
These polyps may be sporadic or syndromic, and the sporadic form can also be referred as inflammatory polyps, since dense inflammatory infiltrates are present in them.
Macroscopically, they are pedunculated, round and lobulated. They may also be eroded. Histologically we can see branching and cystically dilated crypts.
4. Peutz-Jeghers syndrome
This syndrome is a rare autosomal dominant disorder and is characterized by hamartomatous polyps in the whole GI-tract, and mucocutaneous hyperpigmentation. The syndrome also carries higher risks for many malignancies, like breast-, colorectal-, pancreatic-, ovarian-, lung- and stomach cancers. Although the polyps mainly appear in the intestines, they can also occur in the stomach or in the lungs.
5. Colorectal adenomas
Colorectal adenomas are characterized by epithelial dysplasia, and these neoplastic mass lesions can range from small pedunculated polyps to large sessile lesions. As many as 50% of the western population over 50 years have these polyps, and since they are known to develop into malignancies, screening should be mandatory when you reach 50 years.
The morphology of the colorectal polyps varies, and they can be:
- Pedunculated, having a stalk with vessels supplying it
- Sessile, having a broad base
- Semisessile, a mix between the two.
More about the morphology of the colorectal polyps can be studied in the slide section.
6. Familial adenomatous polyposis
Often abbreviated FAP, this disorder is autosomal dominant and caused by the mutation of the adenomatous polyposis coli gene, APC. This disease manifests with hundreds to thousands(!!) polyps in the colon and rectum and start to appear already in the teenage years. They are actually morphologically indistinguishable from colorectal adenomas, so the only way to diagnose a patient with FAP is to count that more than 100 polyps are present.
If a patient with FAP doesn’t get treatment, this patient actually has 100 % risk of developing a colorectal adenocarcinoma! And as that isn’t enough, FAP also has different variants like Gardner syndrome and Turcot syndrome.
Gardner syndrome manifests with osteomas of mandible, skull and long bones, epidermal cysts and thyroid tumors. The Turcot syndrome is a rarer variant and is characterized by intestinal adenomas and tumors of the CNS.
Most patients with FAP have their colon removed to prevent cancer.
Colonoscopy of a patient with FAP. We can see the high number of polyps.
6. Malformations of the small intestine. Malabsorption. Tumors of the small intestine
8. Crohn's disease and ulcerative colitis