Is Gilbert Syndrome harmful?

Meulengracht's disease (Gilbert-Meulengracht's disease, Gilbert-Meulengracht syndrome)

ICD-10-GM-2020 E80.4

What does medicine understand by Meulengracht's disease?

Doctors understand Gilbert-Meulengracht's disease to be an innate, harmless metabolic disorder. Due to an enzyme defect, there is a reduced breakdown of the red blood pigment hemoglobin, which increases the value of the breakdown product bilirubin to over 1.1 milligrams per deciliter. In technical jargon, the increase in the concentration of insoluble bilirubin in the blood is known as hyperbilirubinemia. The term Gilbert-Meulengracht disease itself comes from the French doctor Nicolas Augustin Gilbert and the Danish doctor Jens Einar Meulengracht. The disease is based on a genetic defect that is inherited in an autosomal recessive manner. A typical characteristic is the yellowing of the skin and eyes, known in technical terms as jaundice or jaundice.
 

 

What is meant by bilirubin?

Bilirubin is a breakdown product of the red blood pigment hemoglobin, which is released from about 120 days old red blood cells that have been rejected by the organism and broken down in the liver, the spleen and in the bone marrow. First, the dye is converted into the water-insoluble bilirubin and transported to the liver. There, the enzyme UDP-glucuronosyltransferase normally converts the non-water-soluble bilirubin into a water-soluble form. The bilirubin then migrates from the liver into the bile, which it gives the yellowish color. It is then processed in the intestine into dark brown stercobilin and finally excreted with the stool and urine.
 
If the degradation function of the enzyme UDP-glucuronosyltransferase in the liver is reduced, the bilirubin can only be partially converted into a water-soluble compound and the bilirubin level in the blood increases slightly. Doctors differentiate between direct and indirect bilirubin:
 

  • Indirect bilirubin: Doctors speak of indirect bilirubin when the degradation product has not yet been processed in the liver, which is also the case with Meulengracht's disease.
  • Direct bilirubin: The direct bilirubin can be increased by a congestion in the biliary tract caused by gallstones or tumors, since it cannot be passed on and excreted.

The total bilirubin value should normally be up to 1.1 milligrams per deciliter in the blood, the indirect bilirubin value less than 1 milligram per deciliter and the concentration of direct bilirubin less than 0.2 milligrams per deciliter. If there is an increase in the total value of more than 1.1 milligrams per deciliter in the blood, the bilirubin is deposited in the skin and eyes. The patient develops jaundice.
 
Depending on the cause of the increased bilirubin levels, the doctor must take appropriate therapeutic measures. Gallstones can be removed or dissolved surgically or with medication. If the value in newborns is increased due to a still immature enzyme system in the liver, this normally regulates itself within a few days. A UV light treatment can be used as a support. If Meulengracht's disease is present, treatment is generally not necessary as the liver typically does not show any damage.

What are the symptoms of Meulengracht's disease?

The main characteristic of Gilbert-Meulengracht syndrome is the yellowing of the eyes. This usually occurs in adolescence and in combination with other factors such as exercise, alcohol or nicotine consumption, longer periods of fasting, infections, stress, lack of sleep or a low-fat diet. In rare cases, the skin can also turn yellow, although unlike other liver and gallbladder diseases, there is no itching. The yellow color itself is not harmful, but for many people it is a cosmetic problem.
 
In addition to these characteristics, there may also be unspecific complaints such as tiredness, exhaustion, headaches, abdominal pain and nausea, loss of appetite, mood disorders or concentration disorders. Damage to the liver or other organs does not occur with Meulengracht's disease.

What is the cause of Meulengracht's disease?

The cause of Meulengracht's disease is a malfunction of the enzyme UDP-glucuronosyltransferase in the liver, which can then no longer sufficiently break down the red blood pigment and convert it into a water-soluble form. This subfunction is caused by a congenital genetic defect, which is inherited as an autosomal recessive trait. This enzyme defect leads to a temporary increase in the concentration of the yellow blood pigment bilirubin.
 

 
Since bilirubin is only available in a non-water-soluble form, it cannot be excreted via the intestines or the kidneys and thus migrates into the blood. The symptoms of Meulengracht's disease can be aggravated by certain factors, such as infections, fasting, alcohol and nicotine consumption, a very low-fat diet and greater physical activity. However, taking certain medications can further reduce the activity of the UDP-glucuronosyltransferase enzyme. This includes:
 

  • cholesterol lowering agents such as simvastatin or atorvastatin
  • estrogen-containing preparations such as the birth control pill
  • Pain relievers such as ibuprofen, acetaminophen, or buprenorphine
  • Protease inhibitors used in HIV therapy.

Due to the reduced breakdown function in the liver, the respective active ingredients remain in the body for a longer period of time. This can lead to increased side effects, which is why you should always discuss an intake with your doctor.

Is Meulengracht's disease hereditary?

Meulengracht's disease is inherited in an autosomal recessive manner, which means that children with one affected parent have an increased risk of developing the disease as well. If both parents have the enzyme defect, the children inherit it in any case.

Who is most likely to have Meulengracht's disease?

Around three to ten percent of the population have the enzyme defect, with men four times more likely to be affected than women. The disease itself usually appears around the age of 20, with symptoms mainly showing up between the ages of 15 and 40. Meulengracht's disease usually does not cause any symptoms.

What are the consequences of Meulengracht's disease for those affected?

Although the disease is harmless and the symptoms of Gilbert-Meulengracht syndrome improve or often go away completely with age, many people who are active suffer from the cosmetic problems of yellowing of the skin and eyes. If these are accompanied by other complaints, this can seriously affect the patient's quality of life. Especially the first appearance of jaundice worries many affected people, only the explanation by the doctor brings reassurance.
 
As a rule, life expectancy is not influenced by the disease, nor is it contagious and generally harmless. Organ damage can also be ruled out. Studies have even shown that Gilbert-Meulengracht syndrome protects against certain conditions such as cardiovascular disease or some lung diseases.

When should I see a doctor if I have Meulengracht's disease?

If your eyes or skin turns yellow, you should consult a doctor. Likewise, unspecific complaints such as poor concentration, tiredness, stomach or headache should prompt you to seek medical advice. Routine blood tests should be done at least once a year.

How is Meulengracht's disease diagnosed?

A diagnosis of Meulengracht's disease is rather difficult due to the many unspecific symptoms or the lack of symptoms. Often those affected do not know anything about their genetic defect. The characteristic increased bilirubin level is usually determined by the doctor as part of routine blood tests. Only children who have affected parents are given targeted tests at an early stage. If the blood count is abnormal, the doctor will often arrange for further examinations to rule out other diseases. Typical signs of Gilbert-Meulengracht syndrome in blood tests are:
 

  • A three to five-fold increase in bilirubin in the blood: The normal value should be less than 1.1 milligrams per deciliter. Meulengracht's disease sufferers often have values ​​between two and five milligrams per deciliter.
  • The other liver values ​​are in the normal range.


 
In order to be able to make a reliable diagnosis, the rise in bilirubin values ​​is provoked by a short fasting period of around three days with a maximum of 600 calories per day. Another possibility of protection is an injection of nicotinic acid, as this also increases the bilirubin value. However, the genetic defect can also be detected by means of a molecular genetic examination.
 
Another characteristic of Meulengracht's disease is that the ultrasound does not show any evidence of liver damage.

What treatment options are there for Meulengracht's disease?

The cause of the syndrome itself cannot be eliminated, as it is a congenital, genetic metabolic disorder and the enzyme defect cannot be repaired. Since the disease usually causes no complaints or only mild symptoms, no therapy is necessary.
 
You can keep your blood bilirubin levels low by following a few rules of conduct:
 

  • Avoid fasting cures and diets as well as a very low-fat diet, but eat normally.
  • Avoid excessive physical exertion during sport, as this can lead to an increased breakdown of muscle cells and thus to an increase in bilirubin levels.
  • Stress and lack of sleep also have a negative impact
  • Avoid alcohol and nicotine.
  • Be careful with dietary supplements, foods with chemical additives, Ayurvedic teas, Chinese herbs, and herbal supplements.
  • Protect yourself against infectious diseases through good hygiene

Medication
The doctor sometimes treats severe cases with medication, whereby the side effects are often more serious than the symptoms themselves. This is due to the fact that the liver of those affected can only process certain toxins very slowly and the active ingredients of the medication therefore remain in the organism longer. In particular, some cholesterol-lowering drugs, pain relievers or drugs containing estrogen further reduce the breakdown of hemoglobin and should therefore be avoided. You should speak to your doctor before taking paracetamol, ibuprofen and the birth control pill. Other drugs that can also have serious side effects are the HIV drugs indinavir and atazanavir.

What is the prognosis for Meulengracht's disease?

In most cases, Gilbert-Meulengracht syndrome is completely harmless. If those affected adhere to the rules of nutrition and behavior, they can usually lead a symptom-free life. Most of all, adolescent men suffer from the cosmetic effects of the metabolic disorders caused by jaundice. With increasing age, the symptoms usually improve and disappear completely after the age of 40.
 
Some studies have even found that the increased bilirubin level protects against certain lung and cardiovascular diseases and reduces mortality. The symptoms usually come on in bursts, with long periods of freedom from symptoms in between the acute phases. The symptoms themselves usually subside after a few days. In addition, there is no organ damage and patient mortality is also not increased.

What should I watch out for in terms of nutrition for Meulengracht's disease?

Since a longer period of hunger leads to an increase in bilirubin in the blood, you should avoid this and also avoid fasting. A diet that is too low in fat also increases the level of bilirubin in the blood, which is why you should refrain from such a diet. In addition, you should completely avoid stimulants such as alcohol and nicotine. Otherwise you can eat mostly normally.
 

 

Can I prevent Meulengracht's disease?

Since Gilbert-Meulengracht syndrome is a genetic disposition and the disease is only passed on through heredity, you cannot really prevent it. Since Meulengracht's disease has basically no disease value, this is also not necessary. If you are affected, you can prevent an increased bilirubin level in the blood by adopting a certain lifestyle. You should make sure you get enough sleep, no low-fat diet, no fasts, no alcohol, and no nicotine.

Does the health insurance company cover the costs?

If you suspect Meulengracht's disease, you can see your family doctor. Your health insurance company will usually cover the costs of treatment and diagnosis. Your social security agency also bears the costs of any further examination by a specialist. If you want to have a genetic test, a deductible may apply. It is best to ask your doctor for information on this. If your doctor prescribes medication for you, the health insurance companies will also pay for them, but you have to pay the prescription fee yourself.

 


About the author: Dr. med. Christiane Brunner

Specialist in General Medicine


As a general practitioner, my main concern is to support you in the truest sense of the word in your everyday life. What can you do to stay healthy? And how do you get well again if you are ill?

I combine traditional medicine with natural healing methods, acupuncture and massage in order to find the therapy that best suits you and your life situation.

It is particularly important to me that I meet you as a person. At eye level, very direct, close and personal - for uncomplicated coexistence with humor. Because laughter and a small dose of lightness are the best ways to go through life healthily.