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 LIVER DISEASES
There are over 100 types of liver diseases, and because of more than 200 functions that the Liver plays, many can be life-threatening unless treated.
The Liver diseases have been listed down in alphabetical order. Click on the alphabet to read more about the diseases.
 
 A B C D E F G H I J K L M
N O P Q R S T U V W X Y Z
 
Biliary Atresia Budd-Chiari Syndrome
Byler disease

 

 

Biliary Atresia

Disease condition

Biliary atresia is a serious disease of the very young infant. It results in inflammation and obstruction of the ducts which carry bile from the liver into the intestine. When bile cannot flow normally, it backs up in the liver (a situation called biliary "stasis"). This causes "jaundice," or a yellowing of the skin, and cirrhosis. Cirrhosis occurs when healthy liver cells are destroyed, in this case by disease, and replaced with scar tissue. This scarring interferes with blood flow through the liver, causing more cell damage and scarring.

Disease Etiology

The cause of biliary atresia has not yet been discovered. The disease affects approximately one infant in every 20,000 live births. Girls are affected slightly more often than boys, but no racial or ethnic group appears to be more affected than any other.
Biliary atresia is not a hereditary condition (although in some very rare cases, more than one infant in a family may be affected). Many parents experience feelings of guilt, but they should be reassured that nothing they have done caused their child's illness.

Symptoms

The symptoms of biliary atresia are usually evident between two and six weeks after birth. The baby will appear jaundiced, and may develop a large, hardened liver and a swollen abdomen. The stools are usually pale grey and the urine appears dark.

Some babies may develop intense itching, or "pruritus," which makes them extremely uncomfortable and irritable. The exact cause of this itching is not yet known, although researchers have found a connection between it and the backup of bile.

Diagnosis

There are many liver diseases which cause symptoms similar to those of biliary atresia. Consequently, many tests may have to be performed before biliary atresia can be diagnosed conclusively.

Every effort should be made to search for any of the causes of jaundice which might be confused with biliary atresia. This involves blood and urine tests; liver function tests; blood counts and a test for clotting function. A painless examination using ultrasound (ECHO) is often done to study the liver and determine the size of the bile ducts and gallbladder.

Other tests which are often used are specialized X-ray techniques or radioactive scans of the liver which can be helpful in focusing on the true abnormality. A liver biopsy, in which a tiny sample of the liver is removed with a needle, allows the physician to examine the liver tissue microscopically.

Treatment – Medical, Surgical

The most successful treatment for biliary atresia to date is a type of surgery which creates drainage of bile from the liver when the ducts have become completely obstructed. This operation is called the Kasai procedure (hepatoportoenterostomy) after Dr. Morio Kasai, the Japanese surgeon who developed it.

In the Kasai procedure, the surgeon removes the damaged ducts outside of the liver (extrahepatic) and replaces them with a length of the baby's own intestine, which acts as a new duct.

The aim of the Kasai procedure is to allow excretion of bile from the liver into the intestine via the new duct. The operation accomplishes this about 50 percent of the time. In those who respond well, jaundice usually disappears after several weeks.

In the remaining 50 percent of cases where the Kasai procedure does not work, the problem often lies in the fact that obstructed bile ducts are "intrahepatic" or inside the liver, as well as outside. No procedure has yet been developed to correct this problem except for transplantation.

Liver transplantation is an option which is becoming increasingly useful to victims of certain liver diseases. The survival rates for transplant recipients have increased dramatically with improved surgical techniques and the development of new drugs which help overcome the problem of organ rejection.

In children with biliary atresia, liver transplantation is generally not attempted until the Kasai procedure has been performed. If this operation is not successful, and before complications of the resulting cirrhosis become severe and life threatening, liver transplantation may be attempted. It has been successful in numerous cases. However, as in all organ transplantation, success depends greatly upon the timely availability of suitably matched organs for donation, the time factor involved (a donated liver must be used within 16 hours for the operation to be successful), and other factors which are only now being investigated. The use of reduced-size and living-related transplants are aiding in the timing and availability of suitable donor organs.

Life expectancy and Quality of Life

The aim of treatment after surgery is to encourage normal growth and development. If bile flow is good, the child is given a regular diet. If bile flow is reduced, a low fat diet is recommended as bile is required to aid in the absorption of fats and vitamins. Multiple vitamins, vitamin B complex, and vitamins E, D, and K can be given as supplements.

Unfortunately, despite bile flow, the Kasai procedure is not a cure for biliary atresia. For reasons which are still unknown, liver damage often continues and, eventually, cirrhosis and its complications appear.

The extent and type of liver damage differ in each baby with biliary atresia. Some infants respond to the Kasai procedure; others do not. If bile continues to flow, long-term survival is possible. However, it is presently impossible for a physician to determine in advance which baby is likely to respond to treatment.

Budd-Chiari Syndrome

Disease condition

Budd-Chiari syndrome is a rare disorder caused by blood clots that completely or partially block the large veins that carry blood from the liver (hepatic veins).

Budd-Chiari syndrome is an uncommon condition induced by thrombotic or nonthrombotic obstruction to hepatic venous outflow. Budd described it in 1845, and Chiari added the first pathologic description of a liver with "obliterating endophlebitis of the hepatic veins" in 1899. Hepatomegaly, ascites, and abdominal pain characterize Budd-Chiari syndrome.

The syndrome most often occurs in patients with underlying thrombotic diathesis, including myeloproliferative disorders such as polycythemia vera and paroxysmal nocturnal hemoglobinuria, pregnancy, tumors, chronic inflammatory diseases, clotting disorders, and infections.

Disease Etiology

Usually, the cause of Budd-Chiari syndrome is not known. Some affected people have a blood clotting disorder or sickle cell disease or are pregnant. Direct pressure on the veins, which may result from injury, liver abscess (a pus-filled pocket of infection), liver cancer, or kidney cancer (which can press on the hepatic veins), also increases the likelihood of developing blood clots.

Obstruction of intrahepatic veins leads to congestive hepatopathy. This results from obstruction of either large- or small-caliber veins, which leads to hepatic congestion as blood flows into, but not out of, the liver. Hepatocellular injury results from microvascular ischemia due to congestion. Portal hypertension and liver insufficiency result.

Symptoms

The symptoms of Budd-Chiari syndrome may begin suddenly and severely, but usually they begin gradually. The liver swells with blood and becomes tender. The blood accumulation in the liver raises the pressure in the portal vein, although the consequences may not develop for months. One such consequence of this raised pressure is the formation of dilated, twisted (varicose) veins in the esophagus (esophageal varices), which may rupture and bleed, sometimes massively, often with vomiting of blood. In addition, fluid leaks from the surface of the swollen liver into the abdominal cavity (ascites), and abdominal pain and mild jaundice (a yellowish discoloration of the skin and the whites of the eyes) occur.

Within a few days to several months, other symptoms of liver failure may occur. The blood clots occasionally extend to block the inferior vena cava—the largest vein entering the heart. This blockage causes considerable swelling in the legs and abdomen.

Diagnosis

Early diagnosis can be achieved by sonography or CT scan, the latter giving a typical image with stagnation of contrast material. Cavography is highly recommended to select the best procedure and to identify possible involvement of the vena cava. At the same time, pressure measurements along the vena cava and in the hepatic veins - if accessible - should be performed.

Finally, liver biopsy should be obtained to document cirrhosis or absence thereof since this may influence the choice of treatment. A recent study found that biopsy contained no prognostic information, but there were only 4 % of patients with cirrhosis.

Treatment – Medical, Surgical

If the vein is narrowed rather than blocked, anticoagulants (drugs that prevent clots) or thrombolytics (drugs that dissolve clots) may be used. If esophageal varices develop and bleed, surgery may be performed to reduce the pressure in the portal vein. During surgery, the portal vein is connected to the inferior vena cava, causing blood flow to bypass the liver. However, this newly created connection (shunt) can increase the risk of liver encephalopathy (brain damage from liver disease). Liver transplantation can be an effective treatment, particularly for people with severe liver failure.

The objectives of treatment would be to:

Prevent propagation (increase) of thrombosis

Relieve hepatic congestion

Manage the ascites (e.g low sodium diet, diuretics)

Prevent further damage to the liver and allow the cells to regenerate.

Life expectancy and Quality of Life

Fewer than one third of people with Budd-Chiari syndrome survive for 1 year without prompt and effective treatment.

The best approach to prevention is to carefully control the blood disorders that can lead to Budd-Chiari syndrome.

Byler’s disease

Disease condition

Byler’s Disease, which is now known as Progressive Familial Intrahepatic Cholestasis (PFIC), is a rare, inherited condition that mainly affects the liver and bile. Bile is made within the liver and is essential for the digestion and absorption of fats. Bile is transported from the liver to the small intestine through bile ducts.

The average age at onset is 3 months, although some patients do not develop apparent cholestasis until later, even as late as adolescence. PFIC can progress rapidly and cause cirrhosis during infancy, or it may progress relatively slowly with minimal scarring well into adolescence.

Children who suffer from PFIC are unable to drain bile from the liver even though the bile duct appears to be open and functional. Bile will then build up in the liver causing damage to liver cells. Over time, the liver damage can results in cirrhosis and liver failure. This usually occurs in the first decade of life and a liver transplant is usually necessary.

PFIC is an extremely rare disease that seems to affect only children. Both boys and girls seem to be affected equally. The incidence and prevalence in children is not known because the disease is very rare. First described as Byler’s disease, this disease was thought to only occur in descendants of an Amish man named Jacob Byler. However, recently more cases have been reported and thus the change in the name of the disease to PFIC.

Disease Etiology

PFIC is a genetic disorder that is caused by a problem in the genes that code for the machinery needed to make bile and transport it from the liver into bile ducts. When this machinery fails, the liver cannot remove bile from the blood and eliminate it into the bile ducts.

Bile is used for the excretion of toxins from the body and also the digestion of fats and vitamins. This will result in the build up of bile and toxins in the liver, bloodstream, and other places in the body like the skin.

A gene for PFIC has been identified and follows the inheritance pattern of autosomal recessive. Every person is born with two copies of every gene, one inherited from each parent. In order to have PFIC, a child must receive two bad copies of the PFIC gene. If the child only has one, then he/she will not be affected but is called a “carrier” for PFIC (and can pass this gene to their children). If both parents have one copy of the bad PFIC gene (both parents are carriers), then there is a 25% chance that their child will have PFIC, a 50% chance that the child will be a carrier, and a 25% chance that the child will have no bad PFIC genes.

Symptoms

PFIC usually occurs soon after birth (within six months) and is a very rapidly progressing disease. Sometimes children may not develop the disease until later in childhood and even into adolescence. Children with PFIC may exhibit some or all of the following:

jaundice (yellowing of skin and/or eyes) – usually present soon after birth.

severe itching (pruritis) due to bile build up in skin

poor weight gain and/or growth (failure to thrive)

enlarged liver and/or enlarged spleen

lack of energy

loss of appetite with nausea and vomiting

foul smelling stools or fatty stools from the inability to absorp fat in the diet

pale, grey stools – from bile dysfunction

dark urine – excessive bilirubin in the urine.

Diagnosis

PFIC is diagnosed by recognition of the signs of liver dysfunction and through blood tests. Liver function tests and blood analysis are performed to assess the liver and biliary system.

Children with PFIC will have high amounts of bile in their bloodstream. If the blood tests show that there is a problem with bile drainage, a special picture of the liver may be taken to see how much bile is flowing in the liver.

A test called a bile salt screen may be used to confirm PFIC (PFIC patients have a very high bile salt content). Another test also used to differentiate between two types of PFIC is to test for the amount of an enzyme called gamma-glutamyl-transferase (GGT). A child may be diagnosed with one type of PFIC (Low-GGT PFIC) where the amount of GGT is normal or low in the blood, but bile levels are very high. Another type of PFIC (High-GGT PFIC) occurs when bile and GGT levels in the blood are very high. These children seem to have a more severe and progressive disease. Special DNA based genetic blood tests can be sent to confirm the diagnosis.

Treatment – Medical, Surgical

The treatment of PFIC involves management of the symptoms of the disease, preventing any further complications, and surgical intervention. Depending on the severity of the disease, the primary intervention is to give medicines that will increase bile flow and relieve the severe itching due to build up of bile in the blood and skin. Vitamin supplements are needed because reduced bile leads to difficulties in absorption of vitamins A, D, E, and K.

As the disease progresses, surgical intervention is the only option for patients with PFIC. A procedure called partial external biliary diversion (PEBD) is often first attempted to try to reduce the amount of bile circulating in the liver. This strategy is used to try to preserve the function of the liver and reduce liver damage. This surgical technique involves taking a piece of the intestine and using it as a channel for bile flow. The piece of intestine forms a passage form the gallbladder (organ that stores bile) to the outside of the skin thereby allowing the excretion of bile and wastes. PEBD is often used in older patients who are unresponsive to medical treatments. If the PEBD is unsuccessful or if PFIC progresses to end-stage liver failure, liver transplantation is the only curative option.

Life expectancy and Quality of Life

Most PFIC patients will progress to cirrhosis and will need a liver transplant at some point in their life. However the survival rates for liver transplantation are excellent with almost 90% of patients having successful transplants. There is a good quality of life after recovery from transplantation but close monitoring and lifetime immunosuppressive medications are required.

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