Treatment methods
An important part in the therapy is a diet aimed at reducing the accumulation of bilirubin in the body. Patients should exclude spicy and fatty foods. Patients should also limit alcohol consumption.
Specialists often prescribe medications – choleretic medications – that can help lower bilirubin levels and reduce symptoms of jaundice and hearing.
Patients with the disease have a problem with the transportation and excretion of bilirubin from the liver. Thus it accumulates in the body. This accumulated component gives a jaundiced skin tone.
The main sign of the disease is increased indirect bilirubin in the blood. It does not bind to acid and therefore is not excreted with bile.
Jaundice is the most characteristic symptom of the disease. Patients develop a yellowish tint to the whites of the eyes. Sometimes there may be discomfort or pain in the abdominal area due to an enlarged liver.
The syndrome is an inherited condition and usually manifests in childhood or adolescence. It is important to note that this is a chronic condition and treatment is aimed at reducing symptoms and maintaining the patient’s quality of life.
Diagnosis is made based on scientific signs as well as genetic and laboratory tests. Patients with this syndrome usually require regular follow-up with a physician and diet.
Diagnosis at MDI Clinic
The specialist examines the patient, discusses the patient’s private and family history, and gives a number of symptoms characteristic of the disease. Genetic tests are performed to make a definitive diagnosis. These tests analyze the genes associated with these genetic diseases, SLCO1B1 and SLCO1B3. Finding mutations helps to make a diagnosis.
Increased size of the liver and spleen are the main symptoms of the disease. Abdominal ultrasound assesses the condition of internal organs.
Magnetic resonance device allows you to visualize the bile ducts and assess their condition. It can be used to rule out other biliary pathologies.
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