What are the other Names for this Condition? (Also known as/Synonyms)

• CHF (Congenital Hepatic Fibrosis)
• Congenital Fibrosis Liver

What is Congenital Hepatic Fibrosis? (Definition/Background Information)

• Congenital Hepatic Fibrosis (CHF) is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis)
• Isolated Congenital Hepatic Fibrosis is rare; it usually occurs as part of a syndrome that also affects the kidneys called hepatorenal fibrocystic diseases (FCDs)
• Examples of FCDs include polycystic kidney disease (PKD) and nephronophthisis (NPHP). FCDs can be inherited as autosomal recessive, autosomal dominant, or X-linked recessive disorders
• There is no treatment for Congenital Hepatic Fibrosis to correct the fibrosis or the specific abnormalities in the blood vessels, but complications such as bleeding and infection can be treated

(Source: Congenital Hepatic Fibrosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Congenital Hepatic Fibrosis? (Age and Sex Distribution)

• Congenital Hepatic Fibrosis is rare liver disorder. The prevalence of isolated Congenital Hepatic Fibrosis is not known
• Approximately, 1 in 10,000-20,000 newborns may be affected by conditions in which Congenital Hepatic Fibrosis is a manifestation
• The symptoms of this condition may be present at birth
• Both genders may be affected by this disorder
• Worldwide, individuals of all races and ethnicities may be affected

What are the Risk Factors for Congenital Hepatic Fibrosis? (Predisposing Factors)

The risk factors for Congenital Hepatic Fibrosis may include the following:

• A positive family history for Congenital Hepatic Fibrosis 
• A family history of hepatorenal fibrocystic disease (FCD), such as polycystic kidney disease and nephronophthisis chronic tubulointerstitial disease

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Hepatic Fibrosis? (Etiology)

Congenital Hepatic Fibrosis is caused by abnormalities of the portal vein and bile ducts during fetal development.

• The genetic cause of isolated Congenital Hepatic Fibrosis, which is rare, is not known at the present time
• When Congenital Hepatic Fibrosis is associated with hepatorenal fibrocystic diseases, mutation(s) in many different genes may cause this condition
• Depending on the associated condition and gene(s) involved, the disorder may be transmitted in an autosomal dominant, autosomal recessive, or X-linked recessive manner

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

X-linked recessive pattern of inheritance: The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the Signs and Symptoms of Congenital Hepatic Fibrosis?

The signs and symptoms of Congenital Hepatic Fibrosis may include:

• Enlarged liver
• Enlarged spleen
• Portal hypertension
• Bleeding in the gastrointestinal tract
• Scarring of liver tissue

How is Congenital Hepatic Fibrosis Diagnosed?

Congenital Hepatic Fibrosis is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Molecular genetic testing to check for or confirm specific gene mutation(s) that may cause conditions associated with Congenital Hepatic Fibrosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Hepatic Fibrosis?

The complications of Congenital Hepatic Fibrosis may include:

• Recurrent infections of the bile ducts
• Gallbladder stones
• Cancer of the liver
• Cancer of the gallbladder

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Congenital Hepatic Fibrosis Treated?

There is no cure for Congenital Hepatic Fibrosis, since it is a developmental disorder that occurs in the fetus. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Congenital Hepatic Fibrosis be Prevented?

Currently, Congenital Hepatic Fibrosis may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy), if there is a family history of Congenital Hepatic Fibrosis or hepatorenal fibrocystic diseases, may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• By avoiding alcohol consumption, and the use of non-steroidal anti-inflammatory medications and drugs that can compromise liver function, affected individuals can help prevent certain complications associated with the disorder
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Congenital Hepatic Fibrosis? (Outcomes/Resolutions)

• The prognosis of Congenital Hepatic Fibrosis is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Congenital Hepatic Fibrosis:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/