Congenital liver fibrosis: causes, symptoms, diagnosis, treatment

Histological signs of congenital fibrosis of the liver are wide dense collagenous fibrous cords surrounding the unchanged liver lobules. Heavens contain a large number of microscopic, fully formed bile ducts, some of them contain bile. The branches of the arteries are normal or hypoplastic, while the size of the veins is reduced. Inflammatory infiltration is absent. Perhaps a combination with Caroli syndrome, as well as with a common bile duct cyst.

Sporadic and familial forms of congenital liver fibrosis are observed, which is inherited by autosomal recessive type. It is suggested that the pathogenesis of congenital liver fibrosis is associated with a disruption in the formation of ductal plate of interlobular bile ducts.

Usually, portal hypertension develops, sometimes as a result of defects in the main branches of the portal vein, but more often due to hypoplasia or compression of the portal vein branches by the fibrous tissue inside the fibrous bands surrounding the nodules.

Concomitant kidney damage includes renal dysplasia, polycystic kidney disease in adults and adults, and nephronophthisis (medullary spongy kidney).

Symptoms of congenital liver fibrosis

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

The first clinical manifestations of congenital liver fibrosis in 16 patients

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

Perhaps the combination of polycysticosis with other congenital anomalies, especially 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

Protein levels, serum bilirubin and activity of serum transaminases are usually normal, but serum alkaline phosphatase activity may in some cases increase.

A liver biopsy is necessary to establish a diagnosis. Her performance can be complicated by a dense consistency of the liver.

When ultrasound is detected areas of significantly increased echogenicity, corresponding to dense strains of fibrous tissue. With percutaneous or endoscopic cholangiography, the narrowing of the intrahepatic bile ducts is revealed, which suggests the presence of fibrosis.

Portal venography reveals collateral circulation and normal or deformed intrahepatic branches of the portal vein.

With ultrasound and CT, intravenous pyelography reveals cystic changes in the kidneys or medullary spongy kidney.

Prognosis and treatment of congenital liver fibrosis

Congenital liver fibrosis should be differentiated from liver cirrhosis, since liver function is not impaired and the prognosis is much better.

In patients of this group, in the case of bleeding, a good effect is provided by the imposition of portocaval anastomosis.

The cause of death of the patient can serve as a kidney failure. A successful kidney transplantation is possible.

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