Congenital Hepatic Fibrosis - Causes, Symptoms, Diagnosis, and Treatment

What Is Congenital Hepatic Fibrosis?

Congenital hepatic fibrosis (CHF) is a genetic disorder of the liver present since birth. It is also called congenital liver fibrosis. It is characterized by abnormal development of the bile ducts and the portal veins of the hepatic system(a blood vessel that transports blood from the gallbladder, spleen, pancreas, and intestines to the liver). Bile ducts are the group of ducts that carry bile (fluid secreted by the liver, which carries waste products and breaks down the fats during digestion) from the liver. Portal veins carry blood from the gastrointestinal tract, gall bladder, pancreas, and spleen into the liver for purification. Congenital hepatic fibrosis is also characterized by fibrosis (thickening) of the tissue which limits the normal movement of fluids in the portal tract. The portal tract is the main entrance and consists of a portal vein, bile duct, arteries, and lymphatic vessels.

What Causes Congenital Hepatic Fibrosis?

• Developmental Factor: Congenital hepatic fibrosis is caused due to issues in the formation of the bile ducts and hepatic portal veins. This happens due to the malformation of an embryonic structure called a ductal plate. Each ductal plate is a cylinder of cells that surrounds the branches of the portal veins. Normally, ductal plates develop into the network of bile ducts, but in congenital hepatic fibrosis, these plates do not develop normally, due to which the bile duct remains immature. Also, the branching of the portal veins grows abnormally. It results in the excessive formation of fibrous tissue in the portal tract.

• Genetic Cause: Congenital hepatic fibrosis can rarely occur by itself, which is called isolated congenital hepatic fibrosis. It is typically recognized as a component of a condition, such as polycystic kidney disease (PKD), in which the kidneys also fail to develop correctly. PKD is an inherited genetic disorder where a bunch of cysts forms within the kidney and lose their function and become enlarged.

Different inheritance patterns can exist among the many disorders that include congenital hepatic fibrosis. The majority of these diseases have an autosomal recessive inheritance pattern. A person with an autosomal recessive disorder has one copy of the mutated gene in each parent, but usually, neither parent exhibits the disease's symptoms. Congenital hepatic fibrosis-related rare disorders may be inherited through an X-linked recessive pattern, in which the gene is found on the X chromosome, one of the two sex chromosomes. The kidneys and biliary system of the infant develop abnormally as a result of genetic changes. Congenital hepatic fibrosis is inherited from parents, who must both carry a defective gene to do so.

What Are the Signs and Symptoms of Congenital Hepatic Fibrosis?

The malformation of the bile duct and portal tract results in abnormal blood and bile flow. It results in progressive signs and symptoms of congenital hepatic fibrosis:

• Abdominal swelling.

• Enlarged liver.

• Hematemesis (blood in the vomiting due to internal bleeding).

• Cholangitis (swelling in the bile ducts).

• Portal hypertension (increased pressure in the portal veins due to the thickening of the tissue).

• Nephromegaly (large-sized kidney).

• Gastrointestinal bleeding (bleeding from the stomach, esophagus, and intestine).

• Splenomegaly (enlarged spleen).

• Polycystic kidney disease (PKD).

What Are the Other Disorders Related to CHF?

The symptoms of the following conditions can resemble those of CHF. A differential diagnosis may benefit from comparisons.

• Cirrhosis of Liver: On a liver biopsy, cirrhosis (liver scarring) can resemble CHF, yet people with CHF typically have normal liver function tests.

• Caroli Syndrome: It is a rare congenital liver disease characterized by the expansion (dilatation) of the bile ducts inside the liver. Abdominal pain, skin yellowing (jaundice), and fever are some of the more serious symptoms that might occur. Birth defects like Caroli syndrome are frequently linked to ciliopathies (a set of diseases caused by genetic abnormalities that produce faulty proteins and cause abnormal cilia development or function).

How Can Congenital Hepatic Fibrosis Be Diagnosed?

A person with congenital hepatic fibrosis can remain unnoticed until they experience any signs and symptoms related to the condition.

1. Physical and Clinical Examination: A physician can diagnose the condition by taking a thorough medical history of the patient, family history (if any family member has a history of the condition), physical examination, and clinical signs and symptoms of the disease.

2. Laboratory Test: Certain blood tests are recommended to check the functioning of the liver and the extent of liver injury.

3. Imaging Test:

   • Ultrasound: A liver ultrasound is advised to check the blood flow in the portal and hepatic veins. An ultrasound is a non-invasive scan, known as sonography, to capture images of the liver using high-frequency sound waves.

   • MRI (Magnetic Resonance Imaging): An MRI of the liver is done to check the structure and function of the liver. It helps to diagnose fibrosis of the tissue (thickening of the tissue).

4. Biopsy: In rare cases, a biopsy of the liver is done to confirm the diagnosis or to monitor the condition of the disease and to confirm scarring (thickening of the tissue). In a liver biopsy, a small part of the liver is removed and examined under a microscope for signs of damage or disease.

5. Genetic Testing: Genetic testing is also recommended if the condition is associated with polycystic kidney disease or other genetic syndromes.

What Is the Treatment of Congenital Hepatic Fibrosis?

Unfortunately, no treatment is available to correct the developmental abnormalities in the bile ducts and the portal veins or to reverse the tissue thickening (fibrosis). The main focus of the treatment is to treat the symptoms and the complications associated with the disease, including infections, gastrointestinal bleeding, poor growth, and kidney problems. Antibiotics are used to treat infections. Vitamins are given to compensate for poor absorption from the damaged hepatic system. Certain medications are used to prevent bleeding from the blood vessels in the esophagus. Sometimes endoscopy or surgery is advised to treat internal bleeding. In rare cases, a liver or kidney transplant is recommended due to disease complications.

What Precautions Should Be Taken?

A person with congenital hepatic fibrosis should take the following precautions:

• Avoid alcohol.

• Avoid medicines that could damage liver function.

• Avoid NSAIDs (non-steroidal anti-inflammatory drugs).

Conclusion:

Congenital hepatic fibrosis patients have a prognosis that is dependent on the intensity of their symptoms, the number of complications they have, and whether other body systems are affected, given that the condition has been present since birth. The chance of developing cancer is increased in people with congenital hepatic fibrosis. Therefore, regular screening visits and ongoing monitoring are necessary for all patients to stay healthy.

WordsCharactersReading time