What is Gilbert Syndrome? Symptoms and Treatment

by Abbas Jahangir · June 22, 2024

Genetic diseases can be explained as disorders that run in the family. Genetic diseases are generally incurable and remain active throughout the person’s life. Gilbert’s disease, a genetic disorder, is a non-contagious hereditary disorder that affects an individual’s lifelong lifestyle.

What is Gilbert Syndrome?

Gilbert syndrome or Gilbert disease is an inherited liver disease that causes bilirubin to accumulate in the blood due to the liver’s inability to remove accumulated bilirubin from the body.

In healthy people, the lifespan of red blood cells (red blood cells), which give blood its red color and are responsible for carrying oxygen, is approximately 120 days. After 120 days, red blood cells that have fulfilled their duties and aged are broken down in the spleen. Red blood cells contain plenty of a protein called hemoglobin. Hemoglobin, which is released during the breakdown of red blood cells in the spleen, is destroyed in the tissues and turns into a toxic substance called bilirubin. Bilirubin passes to the liver through the blood. Bilirubin converted in the liver is added to bile. Bilirubin passes through the bile ducts, first to the gallbladder and then to the small intestine. Most of the bilirubin that reaches the small intestine is eliminated from the body through feces. Stool gets its color from bilirubin.

This entire process is regulated by the correct sequence of genes responsible for bilirubin metabolism. Genetic mutations that occur for various reasons disrupt the functioning of bilirubin metabolism. In this case, bilirubin circulating in the blood cannot be captured and processed by the liver. As a result, bilirubin in the blood increases. It causes a condition called hyperbilirubinemia. Bilirubin accumulating in the blood causes various symptoms and diseases such as Gilbert syndrome.

Gilbert syndrome is known as the most common inherited disorder of bilirubin metabolism. It was first described in medical literature by Augustin Nicolas Gilbert in 1901. Known as Gilbert’s disease after Augustin Nicolas Gilbert, it is also rarely called Meulengracht disease or familial non-hemolytic jaundice. The prevalence of Gilbert syndrome, which affects individuals of all races, is between 3-7% in the population. Increasing hormonal changes, especially during adolescence, affect the bilirubin level. For this reason, symptoms of the disease in individuals with Gilbert syndrome usually begin to appear during adolescence.

How Does Gilbert Syndrome Occur?

Gilbert’s disease is a hereditary disease passed down from parents. Uridine diphosphate glucuronyl transferase (UGT) is a group of enzymes that help break down various chemicals. The UGT enzyme group enables the conversion of bilirubin into a water-soluble substance that can be easily excreted with bile. This enzyme is encoded by the UGT1A1 genes. A mutation in the UGT1A1 gene reduces the activation of the UGT enzyme group. Approximately 30% of the bilirubin-UGT enzyme function is active in individuals with Gilbert syndrome. This condition causes bilirubin to accumulate in the blood.

Gilbert Syndrome is an autosomal recessive disease. For the disease to occur, mutations in the UGT1A1 gene must be seen in both chromosome regions. The disease is not seen in individuals with a mutation in a single chromosome. But these individuals are called carriers. Therefore, parents with a mutation in a single chromosome can transmit Gilbert’s disease to their children. It is also known that current Gilbert’s disease is triggered by various factors such as long-term starvation, dehydration, overexertion, stress, hemolysis, and surgical operations. In other words, these factors that strain liver functions may cause clinical symptoms of Gilbert’s disease.

What are the symptoms of Gilbert Syndrome?

Gilbert syndrome, a genetic disorder of bilirubin metabolism in the liver, is usually asymptomatic except for intermittent attacks of jaundice that develop due to fluctuation of bilirubin levels in the blood. Obvious symptoms may not always be observed. It is known that approximately 30% of individuals with Gilbert syndrome never show symptoms. Some of the symptoms of Gilbert’s disease, which can be diagnosed especially during adolescence, are as follows:

Jaundice (especially in the skin and white parts of the eyes),
Nausea,
Diarrhea,
Abdominal pain, bloating,
Weakness, fatigue,
Anxiety,

Gilbert Syndrome Diagnosis

Health professionals look at an individual’s medical history, symptoms, physical exam, and laboratory test results to make a diagnosis. Increased bilirubin levels in blood tests are an important indicator of Gilbert’s disease, apart from possible diseases. In cases necessary for differential diagnosis, imaging methods such as ultrasonography (USG), computerized tomography (CT), magnetic resonance (MR) and additional laboratory tests may be requested.

Gilbert Syndrome Treatment

Cases of Gilbert syndrome usually do not require treatment. Treatments are applied to relieve the individual’s existing symptoms. Medicines that help reduce the total amount of bilirubin in the body may be prescribed by the physician. There is no change in quality of life due to Gilbert syndrome. But once you’re diagnosed with Gilbert syndrome, there are some lifestyle changes that will help reduce symptoms:

Get enough sleep. A quality sleep of 7-8 hours helps your metabolism function regularly.
Avoid exercises that require excessive effort for long periods of time. Limit heavy exercises to a maximum of 10 minutes and allocate at least 30 minutes of the day to light or moderate intensity exercises.
Stay away from stress. Look for ways to cope with stress that negatively affects your physical and mental health. Listen to music, meditate, or try other activities that will relieve stress.
Reduce alcohol consumption. Stay away from alcohol, which triggers liver disorders.
Be careful about the medications you use. Pay attention to whether the medications you use regularly trigger Gilbert syndrome. Be sure to consult your doctor about all the medications you use.
Drink plenty of fluids. Dehydration triggers Gilbert syndrome. Daily water consumption of 2-2.5 liters regulates the functioning of the metabolism.
Be careful of the cold. Gilbert syndrome can be triggered by cold weather. Be sure to take precautions against cold weather.
Pay attention to your nutrition. Nutrition is very important in individuals diagnosed with Gilbert syndrome. Staying hungry for a long time and consuming too much food can trigger Gilbert syndrome.

How Should Those with Gilbert Syndrome Eat?

In Gilbert’s disease, individuals do not need to follow a strict, special diet. But some foods need special attention.

The liver is the largest organ of our body. It is responsible for burning food, storing energy, and cleaning toxic waste. Particular attention should be paid to liver health in Gilbert syndrome. Therefore, it is necessary to consume healthy foods to keep the liver in good condition.

For liver health, fruits, vegetables, grains, poultry and seafood should be consumed balanced and regularly. You can choose foods such as radish, pineapple, carrot, beet, celery, green pepper, spinach, cucumber and papaya.

Foods rich in fiber should be included in the diet for liver health. For a healthy liver and excretory system, it is recommended that women consume 21-25 grams of fiber per day and men consume 30-38 grams of fiber per day.

For liver health, healthy oils and low-fat foods should be preferred. Fatty meat and fish products should be completely excluded from the diet. It is recommended to avoid excessive frying and consume foods mostly by steaming, boiling and baking.

Canned foods, hot sauce and spices, ice cream, chocolate and pastries should be avoided as they may trigger Gilbert syndrome.

Monitoring fluid levels is also very important for people with Gilbert syndrome. Dehydration directly affects the level of bilirubin in the blood. For this reason, water consumption should be sufficient and caffeine and acidic drinks that retain water should be avoided. Since Gilbert syndrome is a genetic disorder, you can minimize the symptoms of the disease by making lifestyle changes when you are diagnosed with Gilbert syndrome. When you suspect Gilbert’s disease or show symptoms, you can consult a specialist physician without delay.