Congenital hepatic fibrosis is a type of liver disease that is present from birth. It typically affects the function of the bile ducts and the veins that carry blood from the digestive tract to the liver.
Liver fibrosis is a buildup of scar tissue in the liver, which can occur when the liver tries to repair and replace cells due to inflammation or damage. Liver fibrosis does not always present symptoms. However, the condition can reduce the function of the liver and restrict blood flow.
Congenital hepatic fibrosis can lead to fibrosis in the portal tracts of the liver. The portal tracts are structures that contain important vessels such as the portal veins, which carry blood from the digestive tract to the liver.
Narrowing of the portal veins due to fibrosis can reduce the amount of blood flow from the digestive tract, which may increase the risk of abnormal bleeding.
Congenital hepatic fibrosis is a
The main characteristic of congenital hepatic fibrosis is the unusual development and functioning of the bile ducts and the hepatic portal system. Congenital hepatic fibrosis also causes a buildup of scar tissue, or fibrosis, within the hepatic portal system. This results in scarring of the liver, making it tough.
The bile ducts are tubes that carry bile from the liver through to the small intestine. Bile is a liquid the liver produces to help the body digest fats from food. The hepatic portal system is a network of veins that transport blood from the digestive tract to the liver.
Congenital hepatic fibrosis most commonly occurs alongside several other conditions that affect the kidneys. However, it is possible for congenital hepatic fibrosis to occur in isolation.
Congenital hepatic fibrosis is a condition that is present from birth. It occurs due to the unusual formation of the bile ducts and the hepatic portal system due to problems in the embryonic ductal plate. These are structures that usually develop into the network of bile ducts. However, with congenital hepatic fibrosis, the ductal plates do not develop and remain immature.
Health experts may also refer to these as ductal plate malformations or fibrocystic liver conditions. Problems with these structures can develop into conditions affecting the biliary tract, liver, and kidneys. As such, congenital hepatic fibrosis rarely occurs alone and usually relates to conditions that impact ciliary function and have an association with kidney disease, known as hepatorenal fibrocystic diseases.
Congenital hepatic fibrosis can occur due to variations in a variety of genes. However, the specific gene changes that cause isolated congenital hepatic fibrosis are not currently known.
For example, congenital hepatic fibrosis occurs in roughly half of people with a certain type of polycystic kidney disease. This type of kidney disease often occurs due to alterations in the PKHD1 gene, which has an association with autosomal recessive polycystic kidney disease.
Symptoms of congenital hepatic fibrosis
A person with congenital hepatic fibrosis may develop high blood pressure in the hepatic portal system due to the abnormal development of the portal veins and the buildup of scar tissue.
The medical term for this is portal hypertension. It can lead to a restriction in blood flow from the digestive tract to the liver. This may lead to a thinning of the veins, which can cause abnormal bleeding. A person with congenital hepatic fibrosis may also develop an enlarged liver and spleen, or hepatosplenomegaly.
Symptoms of congenital hepatic fibrosis and associated conditions that may develop include:
- swelling of the abdomen
- vomiting blood
- passing black-colored stool
- infection in the bile ducts
- gallstones
- nausea
- fatigue
- fever
- itchy skin
As congenital hepatic fibrosis is present from birth, a doctor will usually identify it in children. However, it can be difficult to diagnose, as it may present similarly to other conditions.
To diagnose congenital hepatic fibrosis, a healthcare professional will typically perform an ultrasound or MRI scan. They may also take a liver blood test, perform a physical exam, and take a full family history.
Although rare, a healthcare professional may want to perform a liver biopsy if the diagnosis is not clear following the imaging scans.
Currently, there is no cure available for congenital hepatic fibrosis. However, treatments are available to help manage and reduce symptoms. A healthcare professional will tailor treatment depending on the symptoms and associated health conditions a person experiences.
Therefore, treatment options may vary. Some common treatments for the symptoms of congenital hepatic fibrosis
- taking antifibrotic medications to slow down the development of scar tissue in the liver
- undergoing a liver transplant if the person has severe portal hypertension or fibrosis
- taking antibiotics if any infections are present
According to the British Liver Trust, there are several ways a person can support themselves when living with congenital hepatic fibrosis. These include:
- avoiding alcohol
- avoiding nonsteroidal anti-inflammatory drugs (NSAIDs)
- quitting smoking
- avoiding certain drugs, such as some supplements and over-the-counter medications
- following a healthy, well-balanced diet
- attending liver disease support groups such as the American Liver Foundation
Congenital hepatic fibrosis is a rare type of liver disease that a person is born with. It occurs when the bile ducts and hepatic portal system do not develop correctly before birth. This can lead to several problems with liver function, portal hypertension, and a buildup of scar tissue in the liver.
The main symptoms of congenital hepatic fibrosis are a swollen abdomen, vomiting blood, and passing a dark-colored stool. There is currently no cure for congenital hepatic fibrosis. Therefore, a healthcare professional will vary treatment depending on the symptoms a person experiences and any associated conditions they develop.
A person can help manage congenital hepatic fibrosis by avoiding alcohol, following a healthy diet, quitting smoking, and avoiding certain medications.