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Crohn’s Disease: Is It in Your Genes?

What is Crohn’s disease?

Crohn’s disease is a type of inflammatory bowel disease (IBD) that causes inflammation in the lining of the digestive tract. The location where the inflammation occurs varies from person to person. Any part from the mouth to the anus can be affected. Inflammation can spread deep into bowel tissue and cause serious health problems.

Crohn’s disease can develop at any age, but most commonly affects people in their late teens or 20s. It affects men and women equally. A variety of environmental and genetic risk factors appear to increase a person’s risk of developing Crohn’s disease.

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Genetic factors

What are the genetic risk factors for Crohn’s disease?

Genetics appear to play a role in Crohn’s disease. Experts have found links between the disease and mutations in genes located on chromosomes 5 and 10. Mutations in the ATG16L1, IL23R, IRGM, and NOD2 genes appear to increase the risk of developing Crohn’s disease.

Research suggests these genetic variants affect the presence of bacteria in the digestive system. Changes in this bacteria can harm the ability of intestinal cells to respond to it normally. If intestinal cells respond abnormally to the bacteria, it can cause inflammation and digestive issues associated with Crohn’s disease.

Statistics

Who has Crohn’s disease?

In the United States, the incidence of Crohn’s disease per year is from one to 10 people out of 100,000. According to researchers, 5 to 22 percent of people with Crohn’s disease have a first-degree relative (parent, child, or sibling) with the disease.

Researchers have found Crohn’s disease is becoming increasingly common in infants, children, and young adults.

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Symptoms

What are the symptoms of Crohn’s disease?

Some symptoms of Crohn’s disease to be aware of include:

  • abdominal pain and cramping
  • diarrhea
  • fever
  • fatigue
  • bloody stool
  • small appetite
  • weight loss
  • perianal disease
  • inflammation of eyes, skin, and joints
  • inflammation of liver or bile ducts
  • slowed growth and sexual development in children

See a doctor

When to see your doctor

You should see a doctor if you experience changes in your bowel habits, or have any of the following symptoms:

  • abdominal pain
  • bloody stool
  • prolonged periods of diarrhea that do not resolve with over-the-counter treatments
  • fever lasting more than a day or two
  • unintentional weight loss
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Diagnosis

How is Crohn’s disease diagnosed?

There is not any one test used to diagnose Crohn’s disease because it can present with different symptoms. Most doctors use a mix of tests and procedures to confirm a suspected case of Crohn’s disease. These tests and procedures can include:

  • Radiological testing to help doctors visualize digestive tract function.
  • Biopsies or samples taken of bowel tissue to examine the cells.
  • Blood tests to check for anemia (lack of red blood cells) and infection.
  • Fecal occult blood tests to check for hidden blood in the stool.
  • Colonoscopy uses a special camera to check the colon for inflammation, a sign of Crohn’s disease, and take biopsies of bowel tissue.
  • Flexible sigmoidoscopy uses a special camera to check the last section of the colon for inflammation.
  • Esophogastroduodenoscopy (EGD) uses a camera to look at the esophagus, stomach, and duodenum.
  • Computerized tomography (CT) scan is a specialized, highly detailed X-ray that’s used to check the bowel tissue for irritation.
  • Magnetic resonance imaging (MRI) is a body scan that uses a magnetic field and radio waves to generate detailed images of tissues and organs.
  • Capsule endoscopy involves swallowing a capsule with a camera in it that takes pictures that are sent to a computer you wear on a belt. Your doctor downloads the images and checks them for signs of Crohn’s disease. You eject the camera from your body painlessly through your stool.
  • Double-balloon endoscopy involves sticking a long scope down the throat into the small bowel where standard endoscopes cannot reach.
  • Small bowel imaging involves drinking a liquid containing an imaging element called barium and then taking an X-ray, CT, or MRI scan of the small intestine.

Prenatal testing is available to screen a fetus for Crohn’s disease. If a mutation is identified in a relative, doctors can perform genetic testing during pregnancy. They will check the fetus for mutations in the NOD2 gene.

Finding a mutation in the gene does not mean a diagnosis of Crohn’s disease. It only indicates an increased risk of developing the disease. Talk to your doctor or a genetics professional if you’re interested in prenatal testing.

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Outlook

What is the outlook for Crohn’s disease?

There is no cure for Crohn’s disease. The main goal of treatment is disease remission. This is when you don’t experience any noticeable symptoms of the disease. Remission can last from days to years. But because Crohn’s disease affects everyone differently, it can take time to find an effective treatment plan.

Typically, Crohn’s disease treatment involves a combination of drugs and sometimes surgery. Work with your doctor to figure out what treatments work best for you.

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