How not to waste time and what to do if the disease is diagnosed?
The liver is the largest internal organ in the human body. It is located under the ribcage on the right. This vital organ has many functions that support overall health. In fact, this organ is so important that a person can only survive for one or two days if they stop working. Unfortunately, there are many diseases that can affect the functioning of the liver.
Liver fibrosis is a diffuse disease in which there is an excessive accumulation of scar tissue, which appears as a result of ongoing inflammation and death of healthy organ cells. It occurs when the liver tries to repair and replace damaged cells. Fibrosis is the first stage of organ scarring. Later, cirrhosis occurs if most of the liver is covered with scar tissue.
The coarse fibrous tissue replaces liver cells, but it does not perform any useful function. It can disrupt blood flow inside it, restricting the blood supply to the organ's cells.
The lack of blood flow leads to the death of liver cells, which causes a "domino effect" when there is a gradual growth of scar tissue. In addition, the lack of available places for blood to flow causes increased pressure in a vein that carries blood from the intestine to the liver (portal vein), a condition called portal hypertension.
Causes
Liver fibrosis develops after inflammation or injury to an organ. Its cells activate the healing of injuries. During this healing, large amounts of proteins, collagen and glycoprotein accumulate in the liver. As a result, after multiple renewal events, the liver cells (hepatocytes) can no longer renew. Excess proteins form scar tissue.
Liver diseases that can cause fibrosis include:
- autoimmune hepatitis;
- obstruction of the biliary tract;
- iron overload;
- hepatitis B and C;
- Non-alcoholic fatty liver disease (the most common cause)
- alcoholic liver disease.
Congenital liver fibrosis (CFT) is diagnosed in children. This disease is present from birth.
Congenital liver fibrosis is characterized by a defect in the bile ducts and blood vessels of the portal (portal) organ system. The bile ducts carry bile (the fluid that helps digest fats) from the liver to the gallbladder and small intestine. The liver portal system is a branching network of veins (portal veins) that carry blood from the digestive tract to the liver.
In this disorder, overgrowth of scar tissue (fibrosis) in the portal tracts also occurs. Portal tracts are structures in the liver that connect the vessels through which blood, lymph, and bile flow. Fibrosis in the portal tracts can restrict the normal movement of fluids in these vessels.
Narrowing of the portal veins due to a defect and fibrosis of the portal tract leads to increased pressure in the portal system. Portal hypertension disrupts the flow of blood from the gastrointestinal tract, causing an increase in pressure in the veins of the esophagus, stomach, and intestines. These veins can stretch and thin their walls, leading to the risk of pathological bleeding.
People with HFT have an enlarged liver and spleen (hepatosplenomegaly). The liver is also abnormally formed. People who are affected have an increased risk of inflammation of the bile ducts (cholangitis), build up of hard deposits in the gallbladder or bile ducts, and cancer of the liver or gallbladder.
WFT can occur independently and in this case it is called isolated congenital liver fibrosis. Most often, the disease is due to a feature of genetic syndromes that also affect the kidneys.
The various syndromes that include congenital liver fibrosis may not have the same inheritance patterns. Most of these disorders are inherited in an autosomal recessive manner, which means that both copies of the associated gene in each cell have mutations. The parents of a child with an autosomal recessive condition have one copy of the mutated gene, but they usually do not show symptoms of the condition. Rare syndromes associated with HFT can be inherited in an X-associated recessive pattern, in which the gene associated with the syndrome is on the X chromosome, which is one of the two sex chromosomes.
In isolated congenital liver fibrosis, the pattern of inheritance is unknown.
Symptoms
The intensity of signs of congenital liver fibrosis varies depending on the spectrum and severity. Patients usually develop nonspecific symptoms, making initial diagnosis difficult. The age of onset can vary from early childhood to the fifth decade of life. However, most cases are diagnosed during adolescence and early adolescence.
WFTU has 4 forms:
- with portal hypertension;
- with cholangitis;
- mixed;
- latent.
Esophageal bleeding is common in patients with portal hypertension. Those with the cholangitis form have characteristic cholestasis (decreased flow of bile into the duodenum) and recurrent cholangitis.
Latent HFT is diagnosed at an older age or is detected by chance.
Most patients initially show symptoms of portal hypertension. These include haematemesis (vomiting of blood) and melena (dark sticky stool containing incompletely digested blood).
When liver damage dominates the clinical manifestation of the disease, the affected child may be asymptomatic for many years before signs of organ damage show up as consequences of portal hypertension with repeated episodes of gastrointestinal bleeding of varying severity.
Rarely, patients may have abdominal pain located in the right upper quadrant of the abdomen.
Hepatomegaly (enlarged liver) is present in almost all patients with predominantly left lobe involvement.
Nephromegaly (enlargement of the kidneys) is often found during evaluation of patients with HAP.
Diagnostics
Laboratory research
Liver function testing
Liver enzyme levels are usually within the control range when fibrosis is not complicated by portal hypertension or cholangitis.
Blood levels of alkaline phosphatase and gamma-glutamyl transpeptidase may be increased.
In the presence of cholangitis, levels of bilirubin, alanine aminotransferase (ALT), aspartate aminotransferase (AST), leukocytes, and erythrocyte sedimentation rate (ESR) may increase.
Renal function testing
Renal dysfunction is present in about 20% of patients.
In the presence of renal failure, blood urea and creatinine levels increase and creatinine clearance decreases.
Instrumental research methods
Ultrasound procedure
This study helps to confirm the diagnosis, revealing signs of a heterogeneous picture of intense hepatic echogenicity, portal hypertension, splenomegaly. It is a first-line method used in the diagnostic process due to its ability to detect renal and hepatic abnormalities in the absence of radiation.
An ultrasound examination should include a Doppler study to assess the patency of the vasculature of the portal system.
Nephromegaly and increased echogenicity with polycystic changes further confirm the presence of HFT.
CT scan
Used to further evaluate liver and kidney damage in HFT.
Computed tomography can show abnormal shape and size of the liver. It may also show thickening of the periportal tracts, varicose veins, and splenomegaly. In patients with renal insufficiency, no contrast medium is administered, thereby limiting the study.
Magnetic resonance imaging
MRI detects portal hypertension and periportal fibrosis and may aid in the preoperative planning of affected children with cholangitis PAP.
An ultrasound, MRI, or CT scan will not show the presence of scar tissue in the liver, but they may show other problems.
Upper GI endoscopy
This study is often required for the overall assessment of patients with HAP, especially in the presence of anemia and / or a history of hematemesis or melena. Endoscopy is useful for confirming or excluding the presence of varicose veins, erosion, or ulceration.
Liver biopsy
Traditionally, doctors consider liver biopsy to be the gold standard for testing for liver fibrosis. This is a surgical procedure where a doctor takes a sample of organ tissue. It will then be examined for scarring.
Treatment
Treatment includes prevention of gastrointestinal bleeding and acute cholangitis. Endoscopic sclerotherapy of the esophageal veins is performed with rare minor bleeding.
Venous bypass grafting is recommended when portal hypertension is severe. Portal and inferior vena cava, splenic and renal veins are more often connected. These surgical interventions are performed if there have been episodes of heavy bleeding in order to prevent relapse.
Measures for the prevention of exacerbation of cholangitis in case of HFD consist in full-fledged regular nutrition, early diagnosis, and treatment of any gastrointestinal diseases.
If large stones have formed in the biliary tract, they are removed surgically.
No specific drug therapy is available for congenital liver fibrosis. The child's condition is usually stable if the liver enzyme levels are within the control range.
Drug therapy usually focuses on treating complications such as recurrent cholangitis, sepsis, or renal failure.
Conclusion
The prognosis of WFT is determined by the form of the disease and the treatment performed. Portal hypertension can be latent or with minimal symptoms for a long period of time. If venous bypass grafting is performed early, the outcome will be favorable. HFT with cholangitis has a less positive prognosis. Often, affected children develop infectious diseases of the biliary tract, which tend to relapse and are difficult to treat.
