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Gilbert’s disease, what is it?
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, in the body. It is then a situation of hyperbilirubinemia.
Bilirubin, which is yellowish-orange in color, is produced when blood cells break down. It is found in 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 to the point of causing jaundice: yellowing of the skin and eyes.
This syndrome is usually diagnosed in adolescence. However, an individual may have episodes of hyperbilirubinemia. These episodes are generally not serious, and appear when the body is under tension (periods of stress, prolonged hydration, fasting, illness, excessive exercise, etc.).
Gilbert’s disease patients may also present with abdominal discomfort (stomach aches, stomach aches, etc.), as well as general and chronic fatigue.
Causes of Gilbert’s disease
Gilbert’s syndrome is the result of hereditary genetic abnormalities (transmitted to the 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 which gives the blood red color and allows the distribution of oxygen to the whole organism) is discarded bilirubin. At the same time, the liver is able to convert this substance to its water-soluble form. The soluble form of bilirubin allows it to pass into the bile (fluid produced by the liver playing a significant 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 known to date.
Anyone can be at risk of developing Gilbert’s disease. Since 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 likely to develop 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
- 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 duration of the patient’s life. Furthermore, no specific treatment is available. Health problems associated with Gilbert’s disease are rare. In some cases, the most important complications relate to the development of hepatic (liver) pathologies
It is also not necessary to change your eating habits or decrease usual physical activity. The avoidance of stressful situations, dehydration, fasting, is however advised.