PFIC

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare, genetic disorders that affect the liver. These conditions are characterized by the progressive buildup of bile, a fluid produced by the liver to digest fats, which leads to liver damage.

Types

There are three main types of PFIC, each associated with a different gene mutation. These include:

• PFIC type 1 (also known as Byler disease), which is caused by mutations in the ATP8B1 gene.
• PFIC type 2, caused by mutations in the ABCB11 gene.
• PFIC type 3, caused by mutations in the ABCB4 gene.

Symptoms

The symptoms of PFIC typically begin in infancy or early childhood and may include:

• Jaundice
• Itching
• Failure to gain weight and grow at the expected rate (Failure to thrive)
• Diarrhea
• Nasobiliary drainage

Diagnosis

Diagnosis of PFIC is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include:

• Liver function tests
• Genetic testing
• Liver biopsy

Treatment

Treatment for PFIC is aimed at managing symptoms and preventing complications. This may include:

• Medications to reduce itching and improve bile flow
• Nutritional support
• Liver transplantation

Prognosis

The prognosis for individuals with PFIC varies. Without treatment, many individuals with PFIC develop liver failure in the first or second decade of life. However, with early diagnosis and appropriate treatment, the prognosis can be significantly improved.

See also

• Liver disease
• Genetic disorder
• Cholestasis