Congenital liver fibrosis: causes, symptoms, diagnosis, treatment

The histological features of congenital liver fibrosis are wide, dense collagen fibrous bands surrounding normal liver lobules. The bands contain a large number of microscopic, fully formed bile ducts, some of which contain bile. Arterial branches are normal in structure or hypoplastic, while the veins are reduced in size. Inflammatory infiltration is absent. A combination with Caroli syndrome and a common bile duct cyst is possible.

Sporadic and familial forms of congenital liver fibrosis are observed, which is inherited in an autosomal recessive manner. It is assumed that the pathogenesis of congenital liver fibrosis is associated with a violation of the formation of the ductal plate of the interlobular bile ducts.

Portal hypertension usually develops, sometimes due to defects in the main branches of the portal vein, but more often due to hypoplasia or compression of the fibrous tissue of the branches of the portal vein within the fibrous bands surrounding the nodules.

Associated renal lesions include renal dysplasia, adult-onset and adult-onset polycystic kidney disease, and nephronophthisis (medullary sponge kidney).

Symptoms of congenital liver fibrosis

Congenital liver fibrosis is often mistaken for cirrhosis. The diagnosis is usually made at the age of 3-10 years, but sometimes much later, in adults. Men and women are equally affected. The first manifestations may be bleeding from varicose veins of the esophagus, pronounced asymptomatic hepatomegaly with a very dense edge of the liver, splenomegaly.

First clinical manifestations of congenital liver fibrosis in 16 patients

Manifestation	Number of patients	Age of patients, years
Abdominal enlargement	9	2.5-9
Bloody vomiting or melena	5	3-6
Jaundice	1	10
Anemia	1	16

It is possible to combine polycystic disease with other congenital anomalies, especially of the biliary tract, accompanied by cholangitis.

The disease can be complicated by carcinoma, both hepatocellular and cholangiocellular, as well as glandular hyperplasia.

Diagnosis of congenital liver fibrosis

Serum protein, bilirubin, and transaminase levels are usually normal, but serum alkaline phosphatase activity may be elevated in some cases.

A liver biopsy is necessary to establish a diagnosis and may be difficult to perform due to the dense consistency of the liver.

Ultrasound reveals areas of significantly increased echogenicity, corresponding to dense strands of fibrous tissue. Percutaneous or endoscopic cholangiography reveals narrowing of the intrahepatic bile ducts, which suggests the presence of fibrosis .

Portal venography reveals collateral circulation and normal or abnormal intrahepatic portal vein branches.

Ultrasound , CT, and intravenous pyelography reveal cystic changes in the kidneys or medullary sponge kidney.

Prognosis and treatment of congenital liver fibrosis

Congenital liver fibrosis should be differentiated from liver cirrhosis, since in liver fibrosis the function of hepatocytes is not impaired and the prognosis is significantly better.

In patients of this group, in case of bleeding, the application of a portocaval anastomosis gives a good effect.

The cause of death of the patient may be renal failure. A successful kidney transplant is possible.

[ 1 ], [ 2 ], [ 3 ], [ 4 ], [ 5 ]