Physical Address
304 North Cardinal St.
Dorchester Center, MA 02124
What is Gilbert’s syndrome?
Gilbert’s syndrome, also known as type II hyperbilirubinemia, is a rare inherited liver disease that affects the metabolism of bilirubin. Bilirubin is a substance produced during the breakdown of red blood cells and is naturally removed by the liver. In people with Gilbert’s syndrome, the liver is unable to process bilirubin effectively, leading to its accumulation in the blood.
Causes of Gilbert’s syndrome
Gilbert’s syndrome is caused by a mutation in the UGT1A1 gene, which is responsible for the production of the enzyme glucuronyltransferase. This enzyme helps the liver process bilirubin, but its activity is reduced in people with Gilbert’s syndrome. The disease is hereditary and can be passed down from generation to generation.
Symptoms of Gilbert’s syndrome
Symptoms of Gilbert’s syndrome may be mild or completely absent. The most common symptoms are jaundice of the eyes and skin, also called bilirubin-related jaundice, and recurrent abdominal pain. Other possible symptoms include fatigue, nausea, loss of appetite and general weakness.
Diagnosis of Gilbert’s syndrome
Diagnosis of Gilbert’s syndrome involves blood tests that show increased bilirubin concentration, especially its unbound fraction (unprocessed bilirubin). Additionally, genetic tests can confirm the presence of mutations in the UGT1A1 gene. It is also important to exclude other causes of elevated bilirubin levels, such as liver damage or hemolysis of red blood cells.
Treatment of Gilbert’s syndrome
Fortunately, Gilbert’s syndrome does not require specific treatment. People with this disease can lead normal, healthy lives. However, it is important to avoid factors that may worsen symptoms, such as stress, improper diet, lack of sleep or infections. In case of worsening symptoms of abdominal pain, painkillers can be used under the supervision of a doctor.
Diet in Gilbert’s syndrome
Diet plays an important role in managing Gilbert’s syndrome. People with this disease should avoid high-fat foods and alcohol, which may burden the liver. Regular meals low in fat, high in fiber and fruit and vegetables are recommended. Drinking enough water is also important for liver health.
Is it possible to completely cure Gilbert’s syndrome?
Unfortunately, Gilbert’s syndrome is a genetic disease that has no complete cure. However, with proper lifestyle and diet management, you can effectively control your symptoms and lead a healthy life. Regular check-ups with a doctor and avoiding factors that worsen symptoms are crucial to maintaining a good quality of life.
Gilbert’s syndrome and pregnancy
Women with Gilbert’s syndrome can safely become pregnant and give birth to healthy children. However, it is important to consciously approach the management of the disease during pregnancy, consult a doctor and follow recommendations regarding diet and avoidance of factors that may worsen symptoms.
Who should I contact when symptoms of the disease appear?
If symptoms suggestive of Gilbert’s syndrome appear, such as jaundice, abdominal pain or general weakness, it is worth consulting a family doctor or a gastroenterologist. Your doctor may order appropriate blood and genetic tests to confirm the diagnosis and establish a disease management plan.
Your suggestions
It is worth remembering that Gilbert’s syndrome, although it is not a life- or health-threatening disease, requires a conscious approach and proper management. Regular medical check-ups, a healthy diet and avoiding factors that make symptoms worse can help maintain a good quality of life for people with this disease.
Recommended articles
If you want to learn more about liver disease, the diet for people with Gilbert’s syndrome and how to manage the symptoms, we recommend reading our other articles on this topic. Knowledge and awareness are key to the effective management of this rare disease.