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Surprising Way That Genetic Mutation Causes Huntington's Disease Changes Understanding Of The Disorder

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Crohn's Disease: Is It In Your Genes?

There is evidence that Crohn's disease is genetic, though environmental factors may also be involved.

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.

Yes, genetics do appear to play a role in Crohn's disease, though other environmental factors may also be involved.

There's evidence that Crohn's disease occurs in families, with about 15 percent of patients having an immediate relative with the disease.

Genetic risk factors for 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.

In the United States, an estimated 3 million adults reported being diagnosed with a form of IBD (either Crohn's disease or ulcerative colitis) as of 2015.

This estimate doesn't include children younger than 18. Researchers have found Crohn's disease is becoming increasingly common in infants, children, and young adults, though the reasons aren't yet fully understood.

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

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 don't resolve with over-the-counter treatments

fever lasting more than a day or two

unintentional weight loss

There isn't 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 the following:

Radiological testing helps doctors visualize digestive tract function.

Biopsies or samples are taken from bowel tissue so the cells can be examined.

Blood tests are used check for anemia (lack of red blood cells) and infection.

Fecal occult blood tests are for checking 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.

Esophagastroduodenoscopy (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'll check the fetus for mutations in the NOD2 gene.

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

There's currently no cure for Crohn's disease. The main goal of treatment is symptom relief and 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. Antibiotics, biologics, anti-inflammatory drugs, immune system suppressors, diet, and more are potential therapies that may be recommended by your healthcare team.

Work with your doctor to figure out what treatments may work best for you.

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