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Haemorrhoidal Disease, Genetic Testing

Haemorrhoidal disease, or hemorrhoids, refers to the swelling and inflammation of blood vessels in the rectum and anus, resulting in discomfort, bleeding, and itching. Lifestyle changes, dietary modifications, and medications can relieve symptoms, while more severe cases may require surgery. The assessment of the Polygenic Risk Score for haemorrhoidal disease is based on the examination of 103 gene polymorphisms.

Genetic testing for haemorrhoidal disease is included along with 14 other diseases in the Genetic Screening for Cardiovascular and Respiratory Diseases, Polygenic Risk Score, and in the Genetic Screening for Gastrointestinal Diseases, Polygenic Risk Score, along with 14 other diseases.

Causes and non-genetic risk factors

Hemorrhoids are physiological structures made up of arteriovenous vascular plexuses that form a cushion along the anal canal. When pressure increases in these areas, these hemorrhoids swell, causing hemorrhoidal disease. Factors that may favor their development include:

  • Age, since, over the years, the tissues may weaken.
  • Straining during bowel movements.
  • Sitting for long periods on the toilet.
  • Diarrhea or chronic constipation, for example, in the case of irritable colon.
  • Obesity.
  • Pregnancy.
  • Low-fiber diet.
  • Regular physical exertion.

Symptoms of hemorrhoids may vary depending on the type.

  • External hemorrhoids: they are located in the anus and may cause swelling in this area, itching, pain, and/or bright red bleeding.
  • Internal hemorrhoids are located inside the rectum and are usually asymptomatic. In discomfort, they include pain and/or bright red bleeding.
  • Thrombosed hemorrhoids: on some occasions, blood may accumulate inside the vessel (thrombus) and cause severe pain, swelling, and the presence of a hard lump near the anus.
  • The most effective way to prevent the development of hemorrhoidal disease is to maintain a soft stool consistency, so it is advisable to eat foods rich in fiber, such as fruits, vegetables, and whole grains, drink plenty of fluids, or consider adding fiber supplements.
  • Αvoiding increased pressure in the anal and rectal area can also prevent its development. In line with this, it is advisable not to strain during bowel movements and not sit on the toilet for a long time.
  • Regular exercise prevents constipation and overweight.
Additional information
Results Time4 - 5 Weeks
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