Haemorrhoidal disease

Hemorrhoids or piles are swollen veins in the anus and lower rectum, similar to varicose veins, which can develop internally or externally. They usually cause pain and/or bleeding and their prevalence is highly variable depending on age, ranging from 5% to 36%.

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

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 case of 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.

Prevention

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.

In addition, avoiding 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, as well as not to sit for a long time on the toilet.

In addition, regular exercise prevents constipation and overweight.

Number of observed variants

13.5 million variants

Number of risk loci

103 loci

Genes analyzed

ABO AMPD3 ANGPT2 ATP1B1 BACH1 BICD2 BMP8B BMPR1B BTC CACFD1 CAP2 CCAR2 CCNL1 CDH26 CDKN2A CDKN2B CLMP COL5A2 DCBLD1 DLEU7 EGFR EHBP1 ELN ESR1 ETAA1 EVI2A EYA1 FAM172A FAM185A FAT4 FBXL7 FEZ2 FGD5 FOXC1 FOXL1 GDF7 GREM1 GSDMC HHIP HMGB1P1 HOXC11 HOXD11 HUS1B ISL1 KIAA1217 LIAS LLPH LYVE1 MAP3K20 MAT2B MDFIC2 MDM4 MTCH2 MUC12 MYH11 MYO15A MYOCD NCAM1 NEMP2 NR2F2 PAPPA PDE3A PHLDB2 PLA2R1 PLEC PRKCA RAPGEF3 RASL10A RGMB SERTAD2 SFMBT1 SLC44A3 SMAD3 SND1 SOX5 SPC24 SPRY1 SRBD1 SUGCT TBX5 TCF21 TET2 THBS2 TMEM270 TMEM87B TPPP TRIM59 TRMT44 TTC27 WRAP53 XKR5 XKR9 ZBTB20 ZC3H11B ZEB2 ZFHX4 ZNF404 ZRANB1

Bibliography

Zheng T, Ellinghaus D, Juzenas S, et al. Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease. Gut. 2021 Apr:gutjnl-2020-323868.

Hemorrhoids. Mayo Clinic [Dec. 2021]

Sun Z, Migaly J. Review of Hemorrhoid Disease: Presentation and Management. Clin Colon Rectal Surg. 2016 Mar;29(1):22-9.

Hemorrhoids. National Institute of Diabetes and Digestive and Kidney Disease.

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