Primary Biliary Cirrhosis

It consists of a progressive chronic liver disease characterized by the autoimmune destruction of the bile ducts, which will eventually lead to cirrhosis. It is rare, with an estimated incidence of 0.03%. It usually does not present symptoms at diagnosis, or it will be an insidious clinical form. However, it is often accompanied by other autoimmune pathologies.

The exact causes that trigger primary biliary cirrhosis are unknown; however, studies suggest that certain environmental factors may be responsible for triggering the autoimmune response in genetically predisposed individuals. These environmental factors include infections such as urinary tract infections, smoking, or exposure to chemicals.

Additionally, gender appears to act as a risk factor since it affects women more. There also seems to be a higher frequency in people of Northern European descent, although it can occur in people of any ethnicity.

Symptoms

Many people do not present symptoms in the early stages, and diagnosis often occurs between the ages of 35-70 through a routine check-up.

In slightly more advanced cases, nonspecific manifestations may occur:

  • Fatigue or tiredness.
  • Generalized itching or pruritus.
  • Dry mucous membranes, skin darkening.
  • Abdominal, muscle, or joint pain.
  • Presence of xanthomas (white-yellowish plaques around the eyes).

As the disease progresses, more advanced stages may show other symptoms such as:

  • Jaundice (yellowing of the skin and whites of the eyes).
  • Swelling of the legs, ankles, and feet.
  • Abdominal swelling due to fluid accumulation.
  • Bleeding in the upper stomach or lower esophagus (varices).
  • Nausea.
  • Weight loss.
  • Dark urine.

Prevention

Since the cause of PBC is unknown, it cannot be prevented. However, the following measures can be taken to reduce liver damage and slow down progressive damage:

  • Quit smoking and avoid alcohol and other substances of abuse.
  • Follow a healthy and balanced diet:
    • Choosing healthy foods could include consuming foods rich in vitamins A, D, E, and K and/or supplements of these vitamins. Additionally, foods rich in vitamin D and calcium could help prevent osteoporosis.
    • Foods to avoid include raw shellfish (due to the possible presence of bacteria), foods high in salt, fats, and carbohydrates, especially added sugars.
  • Exercise regularly, at least walk 30 minutes a day.

Find out if you have a genetic predisposition to diseases and take control of your health. Click to learn more.

Number of observed variants

13.5 million variants

Number of risk loci

38 loci

Genes analyzed

ANP32B CCR6 CD226 CD28 CD58 CLEC16A CTLA4 CXCR5 DENND1B DNMT3A ELMO1 ETS1 FCRL4 HLA-DQB1 ID2 IL12A IL12B IL12RB2 IL21R IL7R MANBA MMEL1 MYC NDFIP1 PLCL2 POU2AF1 PRDM1 RAD51B RARB RIN3 SH2B3 SRP54 STAT4 TET2 TIMMDC1 TMEM163 TNFSF11 TNFSF15 WDFY4

Bibliography

Haven't you taken a DNA test yet?

Get your genetic test and find out all about yourself.

starter
Starter DNA test

Ancestry, Traits and Wellness

Buy
starter
Advanced DNA test

Health, Ancestry, Traits and Wellness

Buy
Father's Month Only until 20 June on our DNA tests. Use our code DAD15
Buy