PFIC Type 2 (BSEP Deficiency)
What is PFIC Type 2 (BSEP Deficiency)?
PFIC Type 2 is a rare genetic liver disorder that affects how bile moves through the body. PFIC stands for progressive familial intrahepatic cholestasis. The condition happens when a protein called the bile salt export pump, or BSEP, does not work properly.
Bile is a fluid your liver makes to help digest fats and remove waste from your body. When BSEP is missing or broken, bile salts build up inside liver cells and damage them over time. This causes cholestasis, which means bile cannot flow normally from the liver. The buildup leads to severe itching, jaundice, and progressive liver damage.
PFIC Type 2 usually appears in infancy or early childhood. It is inherited in an autosomal recessive pattern, meaning a child must receive a changed gene from both parents. Without treatment, the condition often leads to liver failure. Early detection through blood testing helps families and doctors plan the best care path forward.
Symptoms
- Severe itching that often worsens at night
- Jaundice, which makes skin and eyes appear yellow
- Dark urine that looks tea-colored or brown
- Pale or clay-colored stools
- Poor weight gain and growth delays in children
- Enlarged liver or spleen
- Fatigue and irritability
- Bleeding or bruising easily due to poor vitamin K absorption
Some children with PFIC Type 2 show symptoms within the first few months of life. Others may develop signs more gradually during early childhood. The itching can be so severe that it affects sleep and quality of life significantly.
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Causes and risk factors
PFIC Type 2 is caused by mutations in the ABCB11 gene. This gene provides instructions for making the bile salt export pump protein. When the gene is changed, the pump cannot move bile salts out of liver cells properly. Bile salts then accumulate inside the cells and cause toxic damage over time.
The condition is inherited in an autosomal recessive pattern. Both parents must carry one copy of the changed gene to pass it to their child. Parents who are carriers typically show no symptoms themselves. Each child of two carriers has a 25% chance of developing PFIC Type 2. Genetic testing and family history help identify risk before symptoms appear.
How it's diagnosed
Doctors diagnose PFIC Type 2 through a combination of blood tests, genetic testing, and liver biopsy. Blood tests check for elevated liver enzymes and bilirubin levels. Urine bilirubin testing can detect conjugated hyperbilirubinemia, which shows that processed bilirubin is spilling into urine because it cannot leave the liver normally. This is an important marker of cholestasis.
Rite Aid offers testing for urine bilirubin through our flagship panel. This helps monitor bile flow issues and liver function. Genetic testing confirms the specific ABCB11 gene mutation. A liver biopsy may be needed to assess the degree of damage and rule out other liver conditions. Early diagnosis allows families to start treatment and plan for long-term care needs.
Treatment options
- Ursodeoxycholic acid, or UDCA, to improve bile flow in some patients
- Medications to reduce severe itching, such as rifampin or cholestyramine
- Fat-soluble vitamin supplements, including vitamins A, D, E, and K
- Special formulas with medium-chain triglycerides for infants
- Surgical biliary diversion procedures to redirect bile flow
- Liver transplantation for children with severe progressive disease
- Regular monitoring with blood tests to track liver function
- Close follow-up with a pediatric hepatologist or liver specialist
Concerned about PFIC Type 2 (BSEP Deficiency)? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
PFIC Type 2 is a rare genetic liver disease caused by bile salt export pump deficiency. The condition causes bile to build up inside liver cells, leading to severe itching, jaundice, and progressive liver damage. It usually appears in infancy or early childhood and requires lifelong medical care.
The first signs often include jaundice, severe itching, and dark urine in infants or young children. Parents may also notice pale stools, poor weight gain, and irritability. Some babies show symptoms within the first few months of life, while others develop signs more gradually.
PFIC Type 2 is inherited in an autosomal recessive pattern. This means both parents must carry one copy of the changed ABCB11 gene. Each child of two carriers has a 25% chance of developing the condition and a 50% chance of being a carrier themselves.
Blood tests can detect signs of cholestasis and liver damage associated with PFIC Type 2. Urine bilirubin testing shows conjugated hyperbilirubinemia, an important marker of bile flow problems. Genetic testing is needed to confirm the specific ABCB11 gene mutation that causes the condition.
Urine bilirubin indicates that conjugated bilirubin is spilling into urine because it cannot exit the liver normally. This happens when bile flow is blocked inside the liver. Positive urine bilirubin is a key sign of cholestasis and helps doctors monitor how well the liver is functioning.
PFIC Type 2 is not curable with medication alone. Some children respond to bile diversion surgery or medications that reduce itching and support liver function. Liver transplantation is often the only definitive treatment for children with severe progressive disease.
PFIC Type 2 is very rare, affecting approximately 1 in 50,000 to 1 in 100,000 births. It accounts for about half of all PFIC cases. Because it is so rare, many families have never heard of it until their child is diagnosed.
Without treatment, PFIC Type 2 leads to progressive liver damage and eventual liver failure. Children may develop cirrhosis, portal hypertension, and severe malnutrition. Early detection and treatment help slow disease progression and improve quality of life.
PFIC Type 2 typically appears in infancy or early childhood. Some people with milder mutations may develop symptoms later in childhood or adolescence. Adults with ABCB11 gene variants may develop other liver conditions, but classic PFIC Type 2 is primarily a pediatric disease.
Children with PFIC Type 2 need regular blood tests to monitor liver function and nutritional status. Testing frequency depends on disease severity and treatment plan. Most children see their hepatologist every 3 to 6 months and have blood work done at each visit to track progression.