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Crohn's Disease, Genetic Testing

Crohn's disease is a chronic inflammatory bowel disease affecting any part of the digestive system. It is characterized by abdominal pain, diarrhea, and weight loss. Treatment includes medications to control inflammation and manage symptoms and, in some cases, surgery to remove damaged parts of the digestive system. The assessment of the Polygenic Risk Score for Crohn's disease is based on the examination of 104 gene polymorphisms.

Genetic testing for Crohn's disease is included along with 14 other diseases in the Genetic Screening for Gastrointestinal Diseases, Polygenic Risk Score, as well as in the Genetic Screening for Immune Diseases, Polygenic Risk Score, along with 12 other diseases.

Causes and non-genetic risk factors

The exact causes of Crohn's disease and its triggers are unknown. Research shows it may result from environmental, immune, and microbiological factors in genetically susceptible individuals. Important risk factors include:

  • Age: Crohn's disease can develop at any age but usually begins during youth. Most people develop it before the age of 30
  • Ethnicity: it is more common in people of Caucasian and Ashkenazi Jewish descent, although it can affect people of any ethnicity
  • Smoking is the most important controllable risk factor associated with CD. In addition, smoking is also associated with a more severe form of the disease
  • Nonsteroidal anti-inflammatory drugs. They can cause inflammation of the intestine, which can worsen the disease
  • High-fat diet, which may increase the risk of the disease

Crohn's disease usually has active periods (flares) with alternating asymptomatic phases, although in some people, there are ongoing symptoms despite treatment. These symptoms vary depending on the area of the intestine affected but usually include the following:

  • Diarrhea of more than 6 weeks evolution, in many cases, with blood
  • Abdominal pain and weight loss
  • Fatigue and general malaise
  • Joint pain
  • Development of perianal fistulas
  • Inflammation of other regions, such as skin, joints, or liver
  • Kidney stones
  • Anemia
  • Stunted growth, when initiated in children

Some research suggests that stress may worsen or even trigger the onset of symptoms. In addition, certain foods may also worsen symptoms in some people.


Preventing the development of Crohn's disease is not possible because the exact causes of its onset are not known. However, it is possible to act against certain risk factors that influence its development and aggravate the pathology, such as smoking. It has been proven that smoking increases the risk of developing this disorder, also increasing the risk of complications in those who suffer from the disease.

In patients diagnosed with Crohn's disease, some therapies can help to reduce their signs and symptoms significantly and can even achieve some remission of the disease. In addition to the pharmacological and surgical treatments available, some actions can help prevent a flare-up or reduce symptoms:

  • Avoid carbonated beverages
  • Avoid high-fiber foods
  • Drink more fluids
  • Eat smaller amounts of food more frequently
  • Keep a food diary to help identify foods that may cause problems
Additional information
Results Time4 - 5 Weeks
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