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Gallstones, Genetic Testing

Gallstones are small, hard stones that form in the gallbladder, a small organ that stores bile. These stones can develop when an imbalance in the substances that make up bile leads to solidification. Gallstones can cause symptoms such as abdominal pain, nausea, and vomiting. Treatment options range from lifestyle changes and medications to surgical removal of the gallbladder. The assessment of the Polygenic Risk Score for choledocholithiasis and predisposition to gallstone formation is based on examining 21 gene polymorphisms.

Genetic testing for choledocholithiasis and a predisposition to gallstone formation is included, along with 14 other diseases, in the Genetic Screening for Gastrointestinal Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

It is one of the most common diseases worldwide, with a prevalence varying between 5 and 25% depending on geographical origin, sex, and age.

The leading cause of gallstone formation is not entirely clear, although it is known to be caused by excess cholesterol or bilirubin in the bile. Also, if the bile is not emptied frequently or adequately enough. Certain people are more prone to develop them due to risk factors that have an essential influence.

  • Sex: they are more frequent in women
  • Pregnancy
  • Hormonal treatments with estrogens
  • Age
  • Ethnic origin is more frequent in Native Americans and less frequent in people of African origin
  • Obesity
  • Elevated cholesterol and triglyceride levels
  • Rapid weight loss
  • Hypercaloric diet
  • Lack of physical activity
  • Hemolysis and chronic bacterial or parasitic infections

Many people with gallstones have no symptoms. Gallstones are often discovered as a chance finding when abdominal X-rays are taken. However, if a large stone blocks a tube or duct that drains the gallbladder, cramping pain may occur in the middle to upper right part of the abdomen. This is known as biliary colic. The pain goes away if the stone passes into the first part of the small intestine.

Symptoms that may occur include:

  • Pain in the upper right or middle of the abdomen for at least 30 minutes. The pain may be constant or cramping. It may be sharp or dull
  • Fever
  • Yellowing of the skin and whites of the eyes (jaundice)

Other less frequent symptoms may include:

  • Clay-colored stools
  • Nausea and vomiting

Genetic factors play an essential role in cholelithiasis, making its prevention more difficult. However, there are some recommendations to help avoid gallstones:

  • Maintain a healthy weight and avoid rapid weight loss
  • Eat a healthy, balanced diet
  • Exercise regularly
  • Avoid certain medications (those to lower cholesterol or hormone therapy)
Additional information
Results Time4 - 5 Weeks
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