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Gastrointestinal Disorders


Functional disorders are those in which the bowel looks normal but doesn't work properly. They are the most common problems affecting the colon and rectum, and include constipation and irritable bowel syndrome (IBS). 

The primary causes for functional disorders include:

  • Eating a diet low in fiber 
  • Not getting enough exercise 
  • Traveling or other changes in routine 
  • Eating large amounts of dairy products 
  • Being stressed 
  • Resisting the urge to have a bowel movement 
  • Resisting the urge to have bowel movements due to pain from hemorrhoids 
  • Overusing laxatives (stool softeners) that, over time, weaken the bowel muscles 
  • Taking antacid medicines containing calcium or aluminum 
  • Taking certain medicines (especially antidepressants, iron pills, and strong pain medicines such as narcotics) 
  • Being pregnant 

Constipation

Constipation is the difficult passage of stools (bowel movements) or the infrequent (less than three times a week) or incomplete passage of stools. Constipation is usually caused by inadequate "roughage" or fiber in the diet, or a disruption of the regular routine or diet. Constipation causes a person to strain during a bowel movement. It might include small, hard stools, and sometimes causes anal problems such as fissures and hemorrhoids. Constipation is rarely the sign of a more serious medical condition.

Irritable bowel syndrome (IBS)

Irritable bowel syndrome (also called spastic colon, irritable colon, or nervous stomach) is a condition in which the colon muscle contracts more readily than in people without IBS. A number of factors can trigger IBS including certain foods, medicines, and emotional stress. 

Symptoms of IBS include:

  • Abdominal pain and cramps, 
  • Excess gas, 
  • Bloating, and a 
  • Change in bowel habits such as harder, looser, or more urgent stools than normal. Often people with IBS have alternating constipation and diarrhea.

Structural disorders

Structural disorders are those in which the bowel looks abnormal and doesn't work properly. Sometimes, the structural abnormality needs to be removed surgically. The most common structural disorders are those affecting the anus, as well as diverticular disease and cancer.

Anal disorders

Hemorrhoids 

Hemorrhoids are swollen blood vessels that line the anal opening caused by chronic excess pressure from straining during a bowel movement, persistent diarrhea, or pregnancy. There are two types of hemorrhoids: internal and external.

Internal hemorrhoids

Internal hemorrhoids are normal structures cushioning the lower rectum and protecting it from damage by stool. When they fall down into the anus as a result of straining, they become irritated and start to bleed. Ultimately, internal hemorrhoids can fall down enough to prolapse (sink or protrude) out of the anus.

External hemorrhoids

External hemorrhoids are veins that lie just under the skin on the outside of the anus. Sometimes, after straining, the external hemorrhoidal veins burst and a blood clot forms under the skin. This very painful condition is called a pile.

Treatment includes removing the clot and vein under local anesthesia in the doctor's office.

Anal fissures

Anal fissures are splits or cracks in the lining of the anal opening. The most common cause of an anal fissure is the passage of very hard or watery stools. The crack in the anal lining exposes the underlying muscles that control the passage of stool through the anus and out of the body. An anal fissure is one of the most painful problems because the exposed muscles become irritated from exposure to stool or air, and leads to intense burning pain, bleeding, or spasm after bowel movements.

Perianal abscesses

Perianal abscesses can occur when the tiny anal glands that open on the inside of the anus become blocked, and the bacteria always present in these glands cause an infection. When pus develops, an abscess forms. Treatment includes draining the abscess, usually under local anesthesia in the doctor's office.

Anal fistula

An anal fistula often follows drainage of an abscess and is an abnormal tube-like passageway from the anal canal to a hole in the skin near the opening of the anus. Body wastes traveling through the anal canal are diverted through this tiny channel and out through the skin, causing itching and irritation. Fistulas also cause drainage, pain, and bleeding. They rarely heal by themselves and usually need surgery to drain the abscess and "close off" the fistula.

Other perianal infections

Sometimes the skin glands near the anus become infected and need to be drained. Just behind the anus, abscesses can form that contain a small tuft of hair at the back of the pelvis (called a pilonidal cyst).

Sexually transmitted diseases that can affect the anus include anal warts, herpes, AIDS, chlamydia, and gonorrhea.

Diverticular disease

Diverticulosis is the presence of small outpouchings (diverticula) in the muscular wall of the large intestine that form in weakened areas of the bowel. They usually occur in the sigmoid colon, the high-pressure area of the lower large intestine.

Diverticular disease is very common and occurs in 10 percent of people over age 40 and in 50 percent of people over age 60 in Western cultures. It is often caused by too little roughage (fiber) in the diet. Diverticulosis rarely causes symptoms.

Complications of diverticular disease happen in about 10 percent of people with outpouchings. They include infection or inflammation (diverticulitis), bleeding, and obstruction. Treatment of diverticulitis includes antibiotics, increased fluids, and a special diet. Surgery is needed in about half the patients who have complications to remove the involved segment of the colon.

Colon polyps and cancer

Each year 130,000 Americans are diagnosed with colorectal cancer, the second most common form of cancer in the United States. Fortunately, with advances in early detection and treatment, colorectal cancer is one of the most curable forms of the disease. By using a variety of screening tests, it is possible to prevent, detect, and treat the disease long before symptoms appear.

The importance of screening

Almost all colorectal cancers begin as polyps, benign (non-cancerous) growths in the tissues lining the colon and rectum. Cancer develops when these polyps grow and abnormal cells develop and start to invade surrounding tissue. Removal of polyps can prevent the development of colorectal cancer. Almost all precancerous polyps can be removed painlessly using a flexible lighted tube called a colonoscope. If not caught in the early stages, colorectal cancer can spread throughout the body. More advanced cancer requires more complicated surgical techniques.

Most early forms of colorectal cancer do not cause symptoms, which makes screening especially important. When symptoms do occur, the cancer might already be quite advanced. Symptoms include blood on or mixed in with the stool, a change in normal bowel habits, narrowing of the stool, abdominal pain, weight loss, or constant tiredness.

Most cases of colorectal cancer are detected in one of four ways:

  • By screening people at average risk for colorectal cancer beginning at age 50 
  • By screening people at higher risk for colorectal cancer (for example, those with a family history or a personal history of colon polyps or cancer) 
  • By investigating the bowel in patients with symptoms 
  • A chance finding at a routine check-up 

Early detection is the best chance for a cure.

Colitis

There are several types of colitis, conditions that cause an inflammation of the bowel. These include:

  • Infectious colitis 
  • Ulcerative colitis (cause not known) 
  • Crohn's disease (cause not known) 
  • Ischemic colitis (caused by not enough blood going to the colon) 
  • Radiation colitis (after radiotherapy) 

Colitis causes diarrhea, rectal bleeding, abdominal cramps, and urgency (frequent and immediate need to empty the bowels). Treatment depends on the diagnosis, which is made by colonoscopy and biopsy.

Appendicitis Symptoms

Appendicitis occurs when your appendix, a worm-shaped pouch attached to the large intestine, becomes inflamed.

It can be life threatening if the appendix bursts, but doctors usually remove it surgically before this happens.

What are the symptoms of appendicitis?

The main symptom of appendicitis is abdominal pain. The pain is at first diffuse and poorly localized, that is, not confined to one spot. (Poorly localized pain is typical whenever a problem is confined to the small intestine or colon, including the appendix.) The pain is so difficult to pinpoint that when asked to point to the area of the pain, most people indicate the location of the pain with a circular motion of their hand around the central part of their abdomen. A second, common, early symptom of appendicitis is loss of appetite, which may progress to nausea and even vomiting. Nausea and vomiting also may occur later due to intestinal obstruction.

As appendiceal inflammation increases, it extends through the appendix to its outer covering and then to the lining of the abdomen, a thin membrane called the peritoneum. Once the peritoneum becomes inflamed, the pain changes and then can be localized clearly to one small area. Generally, this area is between the front of the right hipbone and the belly button. If the appendix ruptures and infection spreads throughout the abdomen, the pain becomes diffuse again as the entire lining of the abdomen becomes inflamed.

 

Source: Health.com/ Medicinet.com

 

Lynch Syndrome


Definition:

Lynch syndrome is an inherited condition that increases your risk of colon cancer and other cancers. Lynch syndrome has historically been known as hereditary non-polyposis colorectal cancer (HNPCC).

A number of inherited syndromes can increase your risk of colon cancer, but Lynch syndrome is the most common. Doctors estimate that about 3 out of every 100 colon cancers are caused by Lynch syndrome.

Families that have Lynch syndrome usually have more cases of colon cancer than would typically be expected. Lynch syndrome also causes colon cancer to occur at an earlier age than it might in the general population.

Causes:

Lynch syndrome runs in families in an autosomal dominant inheritance pattern. This means that if one parent carries a gene mutation for Lynch syndrome, there's a 50 percent chance that mutation will be passed on to each child. The risk of Lynch syndrome is the same whether the gene mutation carrier is the mother or father or the child is a son or daughter.

Tests and Diagnosis:

Family history of colon cancer and other cancers, particularly when they occur at a younger age, may alert your doctor to the possibility that you or members of your family may have Lynch syndrome.

Your doctor may refer you for further Lynch syndrome evaluation if you have:

  • Multiple relatives with any Lynch-associated tumors, including colorectal cancer. Examples of other Lynch-associated tumors include those affecting the endometrium, ovaries, stomach, small intestine, kidney, brain or liver.
  • Family members diagnosed with cancer at ages that are younger than the average for their type of cancer
  • More than one generation of family affected by a type of cancer.
  • Tumor testing
  • If you or someone in your family has been diagnosed with cancer, special testing may reveal whether the tumor has specific characteristics of Lynch syndrome cancers. Samples of cells from a colon cancer and sometimes from other tumors can be used for tumor testing.
  • If you or someone in your family has been diagnosed with cancer in the last several years, the hospital that provided care may be able to supply a tissue sample. These tissue samples are often stored for many years.

Tumor testing can reveal whether the genes related to Lynch syndrome caused your cancer. Tumor tests include:

  • Immunohistochemistry (IHC) testing. IHC testing uses special dyes to stain tissue samples. The presence or absence of staining indicates whether certain proteins are present in the tissue. Missing proteins may tell doctors which mutated gene caused the cancer.
  • Micro-satellite instability (MSI) testing. Micro satellites are sequences of cellular DNA. In people with Lynch syndrome, there may be errors or instability in these sequences in the tumor.
Positive IHC or MSI test results indicate that you have malfunctions in the genes that are connected to Lynch syndrome. But results can't tell you whether you have Lynch syndrome because some people develop these gene mutations only in their cancer cells.

People with Lynch syndrome have these gene mutations in all of their cells. Genetic testing can determine whether you have these mutations.

Increasingly, IHC or MSI testing is being offered to anyone diagnosed with colon cancer to look for signs that may indicate Lynch syndrome. Doctors hope this will help identify families with Lynch syndrome that don't meet the usual criteria for genetic testing.

Genetic testing looks for changes in your genes that indicate that you have Lynch syndrome. You may be asked to give a sample of your blood for genetic testing. Using special laboratory analysis, doctors look at the specific genes that can have mutations that cause Lynch syndrome.

Source: Mayo Clinic