What is Gilbert's disease?
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What is Gilbert’s disease?

Gilbert’s disease is an abnormality in liver function, leading to the presence of a toxic substance in the blood: bilirubin. This pathology is genetic and transmitted to the descendants (hereditary).

Definition of Gilbert’s disease

Gilbert’s disease also called “Gilbert’s syndrome”, is characterized by an abnormally high level of a toxic substance, bilirubin, within the body. This is then a situation of hyperbilirubinemia.

Bilirubin, yellow-orange in color, is produced when blood cells break down. It is found within the body when it undergoes a chemical reaction from the liver.

In patients with Gilbert’s disease, the level of bilirubin fluctuates considerably. In rarer cases, this rate increases until it cause jaundice: and yellowing of the skin and eyes.

This syndrome is usually diagnosed in adolescence. However, an individual may experience episodes of hyperbilirubinemia. 

These episodes are generally not serious, and appear when the body is under tension (periods of stress, prolonged hydration, fasting, illness, excessively intense exercise, etc.).

Gilbert’s disease patients may also present with abdominal discomfort (abdominal pain, stomach pain, etc.), as well as general and chronic fatigue.

The causes of Gilbert’s disease

Gilbert’s syndrome is the consequence of hereditary genetic abnormalities (transmitted to offspring). An error in the encoding of specific genes then causes a deficiency in the liver and the presence of bilirubin in the blood.

In the normal biological process, when the blood cells mature (after 120 days), the hemoglobin (pigment giving the red color to the blood and allowing the distribution of oxygen to the whole body) gets rid of bilirubin. 

In parallel, the liver is able to convert this substance into its water-soluble form. The soluble form of bilirubin allows it to pass into the bile (fluid produced by the liver playing a considerable role in the digestion process), then to be eliminated in the urine or in the stool.

In Gilbert’s syndrome, a consequence of a genetic deficiency, the liver is no longer able to make bilirubin soluble. Its passage into the bile is therefore no longer possible. As a result, this non-evacuated substance is more easily found in the bloodstream.

Beyond the genetic factor, no other risk factor for Gilbert’s disease is currently known.

Every individual can be at risk of developing Gilbert’s disease. Since the transmission is genetic, the presence of the pathology in the family leads to an increased risk of developing it as well. In addition, women are more prone to developing the disease.

Symptoms of Gilbert’s disease

Patients with Gilbert’s disease often present with characteristic symptoms, as well as episodes of jaundice.

The clinical signs are most often associated with:

  • a state of dehydration
  • a lack of appetite
  • disease or infection
  • a period of chronic stress
  • intense physical exercises
  • a lack of sleep

How to treat Gilbert’s disease?

The diagnosis of Gilbert’s disease is made by performing a blood test, to measure the level of bilirubin as well as the state of functioning of the liver.

In some cases, a genetic test can confirm the clinical diagnosis.

It is a disease that lasts for the entire life of the patient. Furthermore, no specific treatment is available. 

Health problems related to Gilbert’s disease are rare. In some cases, the most important complications are related to the development of hepatic (liver) pathologies

Nor is it necessary to change your eating habits or reduce your usual physical activity. The eviction of stressful situations, dehydration, and fasting, is however advised.

Image Credit: Photo by Artem Podrez pexels.com

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