In 1901, the gastroenterologist Agustín Nicolás Gilbert described Gilbert’s syndrome for the first time. He observed that certain patients had high levels of indirect bilirubin and, therefore, a yellowish color of the skin and ocular sclera, called jaundice.
These patients had no viral changes such as hepatitis, nor obstructions of the bile ducts due to tumors, or anything like that. What happened was that, due to a genetic mutation, people with Gilbert’s syndrome had a liver enzyme called glucuronosyltransferase absent.
When this enzyme was not present, it was impossible for bilirubin – a yellow pigment found in bile and formed by the degradation of hemoglobin – to be metabolized normally, as it is in the rest of the population. For this matter, the serum levels have been increased.
Although Gilbert’s syndrome does not have serious implications for the life of a person, it is convenient to know that although it is usually underestimated, it presents a series of symptoms that are extremely uncomfortable. Significant association with emotional problems such as anxiety, depression and obsessions has also been noted.
On the other hand, although it is not widely known, it is estimated that it affects 5% of the population and is more common in men than in women. Some people who suffer from it do not know they have it until routine blood tests are done. It is diagnosed about 15 and 30 years of age.
In addition to these symptoms, which we will now explain in more depth, it is curious to note that, on the other hand, bilirubin is protective of other pathologies.
It has been proven that bilirubin levels slightly higher than normal derive in an antioxidant that can prevent relevant pathologies, such as cancer. It has also been found that patients with Gilbert’s syndrome are more protected against cardiac problems and that their tension is especially low.
What symptoms does Gilbert syndrome have?
Although in medical consultations it is usual to hear that Gilbert syndrome “does not present symptoms”, the reality is that a significant percentage of patients feel misunderstood because this statement does not correspond to their daily reality.
While it is true that not 100% of affected people have these symptoms, many do and they are frustrated to see that there is no treatment that helps them lead a more normal life.
Symptoms usually appear in outbreaks, when bilirubin rises. This usually increases in situations in which the liver is forced to work more. For example: fasting, when we do physical exercise, if we suffer stress or if we are sick due to a virus.
Among the most typical symptoms verbalized by the patients themselves are:
- Jaundice. It is the main symptom and the most objective since it is visible to the naked eye. It appears when the total bilirubin reaches 2.5 mg approximately (it is normal to have it in 1mg). The skin turns yellow, as well as the eyes. It is not annoying on a physical level, but obviously, it is not very flattering and can lead to self-esteem problems if the person does not accept it.
- Fatigue. It is another of the classic symptoms of Gilbert’s syndrome. Sometimes the tiredness is so extreme that the person needs to sit immediately or lie down. This, of course, brings labor or social problems. People in the environment of the patient do not understand this fatigue if no effort has been made and often patients are treated as “lazy” when in fact they are exhausted for no apparent reason.
- Digestive problems and weight loss. The liver is part of the digestive system and therefore, it is relatively frequent that these patients have digestive problems such as nausea, frequent diarrhea or pains in the liver area. As a result, when bilirubin rises in a crisis, they usually lose their appetite and lose weight.
- Depression and anxiety. It is also typical for these affected people to experience depression and anxiety throughout their lives. It is as if the bilirubin disturbed in some way their emotional well-being. Therefore, their quality of life is diminished since it may be more difficult for them to leave this state.
- Migraines. Migraine headaches consist of an intense headache.
Would it be very preposterous then to propose an induction of artificial bilirubin to prevent these diseases? Is Gilbert Syndrome, paradoxically, a therapeutic disease?
Like other diseases, such as irritable bowel syndrome or fibromyalgia, even Gilbert’s syndrome remains “orphan” as far as consideration and research are concerned. The conclusions that we can reach in this article is that perhaps such research could open many doors.
On the one hand, the design of some type of treatment that will alleviate as far as possible the adverse symptoms of this condition. On the other hand, to analyze in greater depth the properties of bilirubin in blood and to check its possible benefits in different diseases that are currently life threatening.