Genetic diseases can be explained as family diseases. Genetic diseases are often incurable and remain effective throughout a person's life. Gilbert's disease, which is a genetic disorder, is also a non-contagious inherited disorder that affects an individual's life-long lifestyle. It is a hereditary liver disease that causes accumulation of blood. At the end of 120 days, the red blood cells that fulfill their duty and age are broken down in the spleen. Red blood cells contain a large amount of a protein called hemoglobin. The hemoglobin released during the breakdown of red blood cells in the spleen is broken down in the tissues and turns into a toxic substance called bilirubin. Bilirubin passes through the blood to the liver. Bilirubin converted in the liver is added to the bile. Bilirubin passes through the bile ducts to the gallbladder and then to the small intestine. Most of the bilirubin reaching the small intestine is excreted through the stool (feces). Stool gets its color from bilirubin.
This whole 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, the 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's syndrome.
Gilbert's syndrome is known as the most common inherited disorder of bilirubin metabolism. It was first described in the 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 incidence of Gilbert syndrome, which affects individuals from all races, is between 3-7% in the population. Hormone that increases especially during adolescence Nasal changes affect the bilirubin level. For this reason, the symptoms of the disease in individuals with Gilbert's syndrome usually begin to appear during adolescence.
How Does Gilbert's Syndrome Occur?
Gilbert's disease is an inherited disease inherited from parents. Uridine diphosphate glucuronyl transferase (UGT) is a group of enzymes that help break down various chemicals. The UGT group of enzymes converts 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 lowers the activation of the UGT enzyme group. Approximately 30% of bilirubin-UGT enzyme function is active in individuals with Gilbert's syndrome. This situation causes the accumulation of bilirubin in the blood.
Gilbert Syndrome is an autosomal recessive (recessive) disease. For the disease to occur, mutations in the UGT1A1 gene must be observed in both chromosome regions. Individuals with mutations in a single chromosome do not have the disease. But these individuals are called carriers. Therefore, parents with a mutation in one chromosome can pass on Gilbert's disease to their children. In addition, it is known that present Gilbert's disease is triggered by various factors such as prolonged hunger, dehydration, excessive effort, stress, hemolysis, surgical operations. In other words, these factors that lead to difficulties in liver functions may lead to the occurrence of clinical symptoms of Gilbert's disease.
What are the Symptoms of Gilbert's Syndrome?
Gilbert's syndrome, which is a genetic disorder of bilirubin metabolism in the liver, It is usually asymptomatic, except for intermittent episodes of jaundice due to fluctuating bilirubin levels in the blood. Significant 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 whites of the eyes),
- Nausea,
- Diarrhea,
- Abdominal pain, bloating,
- Weakness, fatigue,
- Anxiety,
- Anorexia.
- Get enough sleep. A quality sleep of 7-8 hours helps your metabolism work regularly.
- Avoid long-term exercises that require excessive effort. Limit heavy exercises to a maximum of 10 minutes, and dedicate at least 30 minutes of the day to light-paced or moderate-intensity exercise.
- Stay away from stress. Look for ways to cope with the stress that negatively affects your physical and mental health. Listen to music, meditate, or try other activities that will relieve you of stress.
- Reduce your alcohol consumption. Stay away from alcohol, which triggers liver disorders.
- Be careful with the drugs you use. Pay attention to whether the drugs you use regularly trigger Gilbert's syndrome. Consult your doctor about all the medications you use.
- Consume plenty of fluids. Dehydration triggers Gilbert's syndrome. The fact that daily water consumption is between 2-2.5 liters regulates the functioning of metabolism.
- Be careful against the cold. Gilbert syndrome can be triggered in cold weather. Take precautions against cold weather.
- Pay attention to your diet. Nutrition is very important in individuals diagnosed with Gilbert syndrome. Being hungry for a long time, consuming too much food can trigger Gilbert's syndrome.
Diagnosis of Gilbert's Syndrome
Health professionals, diagnostic co It looks at the individual's medical history, symptoms, physical exam, and laboratory test results to find out. Bilirubin levels, which are increased in blood tests, are an important indicator in Gilbert's disease, apart from possible diseases. In cases required for differential diagnosis, imaging methods such as ultrasonography (USG), computed tomography (CT), magnetic resonance (MR) and additional laboratory tests may be requested.
Gilbert Syndrome Treatment
Gilbert Cases of the syndrome usually do not require treatment. Treatments that relieve the existing symptoms of the individual are applied. Medications 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 when you're diagnosed with Gilbert's syndrome, there are some lifestyle changes that can help reduce symptoms:
How Should People with Gilbert's Syndrome Eat?
In Gilbert's disease, individuals must follow a strict and special diet. no need to apply type. But some foods need special attention.
Liver is the largest organ of our body. It is responsible for burning food, storing energy, and cleaning up toxic waste. Particular attention should be paid to liver health in Gilbert syndrome. For this reason, it is necessary to consume healthy foods to keep the liver in good condition.
For liver health, fruits, vegetables, grains, poultry, seafood should be consumed in a balanced and regular manner. You can choose foods such as radish, pineapple, carrot, beetroot, celery, green pepper, spinach, cucumber and papaya.
Foods containing rich 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 and men 30-38 grams of fiber a day.
Healthy fats and low-fat foods should be preferred for liver health. Fatty meat and fish products should be completely excluded from the diet. Avoiding excessive frying, it is recommended to consume foods by steaming, boiling and baking.
Canned foods, hot sauce and spices, ice cream, chocolate and pastries should be avoided as they can 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, it is necessary to consume sufficient water and avoid caffeine and acidic beverages that retain water. Since Gilbert syndrome is a genetic disorder, you can minimize the symptoms of the disease by making lifestyle changes when Gilbert syndrome is diagnosed. When you suspect Gilbert's disease or show symptoms, you can consult a specialist physician without wasting time.
Read: 0
