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Hereditary Colorectal Cancer

Hereditary Colorectal Cancer

Hereditary Colon Cancer Symptoms

Many patients with colorectal cancer experience no symptoms in the early stages of the disease. Symptoms may not appear until the disease is in an advanced stage. Routine colorectal screening and understanding the risk factors are important.

Symptoms of colorectal cancer are similar to symptoms of other colon diseases. If you experience the following symptoms, see your physician so a diagnosis can be made:

  • Bloody stool

  • Unexplained diarrhea

  • A long period of constipation

  • Abdominal cramps

  • Decrease in size or caliber of stool

  • Gas pain, bloating, fullness

  • Unexplained weight loss

  • Lethargy and vomiting

Hereditary Colorectal Cancer Diagnosis at Johns Hopkins

Genetic testing is available for certain hereditary colorectal conditions, including familial adenomatous polyposis , hereditary nonpolyposis colorectal cancer and APCI1307K .

Learn more about screening guidelines for people at risk for hereditary colorectal cancer.
Our medical team will keep a detailed medical history about you, including your personal and family medical histories. We will perform a physical examination and may order laboratory tests.
Other diagnostic procedures include:

Digital Rectal Exam

Your doctor may perform a digital rectal examination. This is a painless examination of your rectal area. Your doctor inserts a gloved, lubricated finger into the rectum to gently feel for any abnormalities.

Fecal Occult Blood Test

This test looks for occult (hidden) blood in the stool. For this test:

  1. You receive three small cards and place a sample on each from three consecutive bowel movements.

  2. A small amount of the stool is placed on a special test strip.

  3. The stool is analyzed to see if there is any blood.

Flexible Sigmoidoscopy

A flexible sigmoidoscopy is a type of endoscopic diagnosis. An endoscope is a thin, flexible lighted tube that your doctor inserts inside you to see the affected area.

A flexible sigmoidoscopy examines the rectum and lower colon. During the procedure:

  1. Your colon must be clear of stool so your doctor has good visibility. Preparations may include a liquid diet, enema and laxatives.

  2. Your doctor inserts the sigmoidoscope through the rectum and into the anus and large intestine, and checks to see if cancer or polyps are present.

  3. A biopsy forceps may be inserted through the scope in order to remove a small sample of tissue for further analysis.

  4. The procedure may cause some cramping or discomfort.

Colonoscopy

A colonoscopy is the best way to detect polyps or cancer. A colonoscopy allows your doctor to see further into the bowel than the sigmoidoscopy in order to determine if polyps or cancer are present.

During a colonoscopy:

  1. Your colon must be clear of stool so there is clear and good visibility. Preparations may include a liquid diet, enema and laxatives.

  2. You are sedated before the procedure.

  3. Your doctor inserts the colonoscope through the rectum and into the anus and large intestine, and checks to see if cancer or polyps are present.

  4. Biopsy forceps may be inserted through the scope in order to remove a small sample of tissue for further analysis.

  5. If there is a polyp, it can be removed it through the colonoscope.

  6. The procedure may cause some cramping or discomfort.

    Location of the colon in the body with corresponding cut-away section of a colon segment with polyps.
    Location of the colon in the body with corresponding cut-away section of a colon segment with polyps. (Click to Enlarge)

Barium Enema

A barium enema is an X-ray of the rectum and colon. Before the procedure, you will need to clear your colon of any stool. Preparations may include a liquid diet, enema or laxative. During a barium enema:

  1. A barium preparation (contrast material) is inserted through a rectal tube.

  2. The barium outlines the colon, highlighting any abnormalities.

  3. An X-ray is taken, and the entire colon is seen to see if polyps or cancer are present.

Hereditary Colorectal Cancer Treatment at Johns Hopkins

Your doctor will recommend surgery to remove the cancer, alleviate your symptoms and offer you the best chance for a cure. There are different surgical options available. Learn more about hereditary colorectal cancer treatmentat Johns Hopkins.

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