Cholestasis is a liver condition that slows or stops the flow of bile from the liver. Bile is essential for digesting fats and removing waste products from the body. When bile flow is impaired, it can cause a buildup of bile acids in the liver, leading to liver damage. One specific form of this condition, known as Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2), is caused by mutations in the ABCB11 gene. Understanding the symptoms and undergoing genetic testing for this condition is crucial for early diagnosis and management.
Symptoms of ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2
The symptoms of PFIC2 can vary from one individual to another but typically include the following:
- Jaundice: This is one of the earliest signs of PFIC2, where the skin and whites of the eyes turn yellow due to the accumulation of bilirubin in the blood.
- Pruritus (itching): Severe itching is common and is often one of the most distressing symptoms for patients.
- Steatorrhea: The presence of excess fat in the stools, which can be foul-smelling and greasy, is a sign of malabsorption due to reduced bile flow.
- Failure to thrive: Children with PFIC2 may experience poor growth and weight gain due to malabsorption of nutrients.
- Portal hypertension: Increased blood pressure in the portal vein can develop, leading to complications such as splenomegaly (enlarged spleen) and esophageal varices.
Recognizing these symptoms early is vital for prompt diagnosis and treatment to prevent liver damage and improve quality of life.
ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 Genetic Test
Genetic testing for PFIC2 involves analyzing the ABCB11 gene for specific mutations known to cause the condition. This test is crucial for confirming the diagnosis, especially in families with a history of liver diseases or cholestasis. The genetic test provides valuable information that can guide treatment decisions and help predict the disease’s course.
The cost of the ABCB11 gene cholestasis progressive intrahepatic type 2 genetic test is 4400 AED. This investment in health can provide critical insights into managing the condition effectively and improving the patient’s quality of life. Early diagnosis through genetic testing can lead to timely interventions, including medical management and, in some cases, liver transplantation.
For more information on the ABCB11 gene cholestasis progressive intrahepatic type 2 genetic test and to schedule a test, please visit DNA Labs UAE. Our dedicated team of experts is committed to providing accurate diagnoses and comprehensive support for individuals and families affected by this condition.
Understanding the genetic basis of diseases like PFIC2 is crucial for effective management and treatment. Through genetic testing, individuals at risk can take proactive steps towards monitoring and managing their health, ultimately leading to better outcomes and a higher quality of life.
