Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic condition that prevents bile from properly draining from the liver. It often begins in infancy.

PFIC can cause a range of symptoms, such as mild to severe itchiness, jaundice, issues with weight gain or feeding, and more.

Treatments for PFIC focus on managing symptoms and reducing the risk of complications.

Read on to learn more about the symptoms of PFIC and what causes the condition. This article also looks at how doctors diagnose the condition, treatment options, and more.

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Itching, or pruritus, is one of the main symptoms of PFIC. It can range from mild to severe and usually affects the whole body.

Severe itching typically affects the:

  • palms of the hands
  • soles of the feet
  • upper body

Itching can lead to:

  • skin damage from scratching
  • irritability
  • difficulty paying attention
  • disrupted sleep

Other signs and symptoms of PFIC can include:

Symptoms usually begin in infancy or childhood.

PFIC happens when a person inherits a gene mutation from both parents. If both parents carry the gene, then there is a 50% chance the child will receive one copy of the gene mutation.

There will also be a 25% chance that the child will develop the condition and a 25% chance that the child will not receive a copy of the gene mutation from either parent.

If a person develops the condition, they will be unable to drain bile from the liver properly. This causes cholestasis, where bile builds up in the liver.

There are three main types of PFIC:

  • BSEP deficiency: This is the most common type of PFIC. It happens due to changes in the ABCB11 gene, causing the body to make the protein bile salt export pump (BSEP). BSEP deficiency was previously called PFIC2.
  • F1C1 deficiency: This type happens due to changes in the ATP8B1 gene. It causes a shortage of the FIC1 protein. F1C1 deficiency was previously called PFIC1.
  • MDR3 deficiency: This type happens due to changes in the ABCB4 gene. It causes the body to make a protein that transports fats across the cell membrane. MDR3 deficiency was previously called PFIC3.

Rare types of PFIC include:

  • FXR deficiency
  • MY05B deficiency
  • TJP2 deficiency
  • USP53 deficiency

It may be necessary to order numerous tests to assist in diagnosing PFIC. If a doctor suspects PFIC, they may order:

  • Liver function test: The liver function test is a blood test that can check for and monitor liver injury.
  • Bile acid tests: These are blood and urine tests that can measure bile acid levels.
  • Genetic tests: Genetic tests are blood tests to check for gene mutations.
  • Liver biopsy: A liver biopsy involves using a thin needle to remove a small sample of liver tissue for analysis in a laboratory.
  • Ultrasound scans: An ultrasound can look at the size of the liver and blood flow in and out of the liver.
  • MRI and MRCP: Magnetic resonance imaging (MRI) and magnetic resonance cholangiopancreatography (MRCP) can help assess the health of internal organs.
  • Radionuclide (isotope) scan: This involves injecting a chemical called an isotope into the vein and using a gamma camera scanner to view the liver, gallbladder, and bile ducts.
  • Bone X-ray: A bone X-ray can check for bone weakness that may be caused by vitamin D deficiency.

While there is no cure for PFIC, treatments can help manage symptoms and reduce the likelihood of complications.

Medications for PFIC can include:

  • Ileal bile acid transporter (IBAT) inhibitors to reduce the amount of bile acid in the liver
  • cholestyramine to stop bile acids from reabsorbing into the bloodstream, which may help with itching for some people
  • ursodeoxycholic acid to help improve how bile flows out of the liver
  • the antibiotic rifampicin as second-line therapy

Other treatments for PFIC can include:

  • dietary support
  • vitamin supplements
  • nasogastric feeding if the individual needs additional calories or support with growth

If symptoms do not respond to other treatments, surgery may be necessary. Possible procedures for PFIC include:

  • partial external biliary diversion (PEBD), which involves connecting the end of the gallbladder to a stoma, or opening in the abdomen
  • partial internal biliary diversion (PIBD), which involves connecting the end of the gallbladder to the large intestine
  • ileal exclusion (IE), which involves reducing the amount of bile salts reentering the bloodstream by creating a bypass around the distal ileum, which is part of the bowel
  • liver transplant, which may be necessary in childhood or adulthood

PFIC can lead to complications such as:

PFIC treatments can help reduce the likelihood of complications developing. A person can talk with their doctor or the child’s doctor about ways to manage any complications that develop.

PFIC is a rare condition. It affects an estimated 1 in every 50,000 to 100,000 people worldwide.

At what age does PFIC typically appear?

PFIC usually appears in infancy. For some people, it may develop later in childhood.

Can PFIC lead to liver failure?

PFIC can lead to liver failure. In some cases, a liver transplant may be necessary.

Is PFIC genetic?

PFIC is a genetic condition. A person may develop the condition if they inherit one copy of the gene mutation from each parent.

Is liver transplantation necessary for all PFIC cases?

Liver transplants may not be necessary for every person with PFIC. A doctor may recommend the transplant in serious cases or if symptoms do not respond to other treatments.

Progressive familial intrahepatic cholestasis (PFIC) is a genetic condition that causes bile to build up in the liver. It is a rare condition affecting around 1 in every 50,000 to 100,000 people.

PFIC symptoms usually begin in infancy and can include itching, jaundice, slower growth, vitamin deficiencies, and more. Complications such as liver failure can also develop.

A doctor may recommend medication to reduce the amount of bile in the liver and improve flow from the liver. Dietary changes can also help. Surgery may also help in some cases.