Hepatomegaly refers to abnormal swelling of the liver. On palpation of the right side of the abdomen, if the liver extends below the ribs, it indicates an enlarged liver. Hepatitis indicates general inflammation of the liver. If both the liver and spleen are enlarged, the condition is called Hepatosplenomegaly.
Possible causes of Hepatomegaly include:
Most people suffering Hepatomegaly do not have any noticeable symptoms. Some experience fatigue, loss of appetite, nausea and pain on the right side of the abdomen. Diagnostic tests such as abdominal ultrasound, Liver Function Test and abdomen MRI are suggested.
Jacques Caroli, a French physician reported Caroli's disease as a distinct clinical entity - that of an inherited condition – the bile ducts in the liver are widened and there are fibrous changes in the liver and cysts within the kidneys.
Caroli disease is of two types – the most common being the simple or isolated case with widening of the bile ducts, and the second type – a more complex one and the cause is known as Caroli's syndrome. Caroli affects females more than males.
Causes of Caroli's Syndrome
The cause is largely complex genetics in nature. The simple form of Caroli is autosomal dominant trait and the more complex form is an autosomal recessive trait. Congenital hypertension and hepatic fibrosis are linked to this common form. Liver failure and Polycystic kidney disease are also associated with Caroli.
ARPKD and PKHDI are gene linked diseases. While ARPKD is found mutated in patients with Caroli syndrome, PKHDI is found primarily in the kidneys with lower levels in the liver, pancreas and lungs and affects the liver and kidneys. There is a basic difference in the genetic pattern between Caroli disease and syndrome. By far, Caroli is a rare disease and affects about 1 in 1,000,000 people. There are more reported cases of Caroli's syndrome than Caroli's disease.
Symptoms of Caroli's Syndrome
Fever is the first symptom. This is followed by abdominal pain and hepatomegaly. In some, jaundice occurs. Nausea, vomiting, stomach pain, enlarged liver, kidney infection, gallstones are other signs. Whereas autosomal recessive diseases such as polycystic kidney disease, cholangitis, gallstone, biliary abscess, septicemia and liver cirrhosis, renal failure and cholangiocarcinoma - Cancer of the liver ducts, also exhibit Caroli disease. Research proves that those with Caroli are at 100 times more risk for cholangiocarcinoma than the general population. If relevant symptoms of the disease can be checked, Caroli can be diagnosed.
Morbidity is common due to complications and morbid conditions such as sepsis; cholangiocarcinoma should prompt the diagnosis of Caroli. In some, portal hypertension may also be present and this can result in conditions such as Splenomegaly - enlarged spleen and Hematemesis - vomiting of blood. These problems may severely affect the patient's quality of life.
Diagnosis of Caroli's Syndrome
Caroli nowadays is more frequently diagnosed and ultrasonography is the initial investigation of choice. CT is used when insufficient data is found in the USG. CT is an excellent way to demonstrate the extent of the disease. MRI is another tool that is used. However, plain radiography of the abdomen may very rarely reveal small bile duct calcification.
Treatment of Caroli's Syndrome
Treatment methodology for Caroli includes supportive care with antibiotics for cholangitis and Ursodeoxycholic acid for Hepatolithiasis - gallstones in the biliary ducts of the liver. Sometimes surgical resection is used in patients with monolabar disease. Orthotopic liver transplantation is done in patients who cannot be operated radically. If one segment with choledochal cyst is found, it can be surgically treated. In case of bilobar involvement, treatment is palliative with follow up and complications are detected and treated.
A syndrome that is characterized by acute metabolic condition that can occur during prolonged alcohol abuse. It was described initially in 1958 by Dr Leslie Zieve for patients with a combination of alcoholic liver disease Hemolytic Anemia and Hypertriglyceridemia. Zieve's syndrome exhibits liver and blood abnormalities caused by heavy alcohol consumption.
This is a condition associated with chronic alcoholism, frequently encountered in hospitalized alcoholics who have suddenly stopped alcohol. The underlying cause is liver delipidization and hemolytic anemia. This is distinct from alcoholic hepatitis which may be present simultaneously or develop later. The syndrome is defined by excessive blood lipoprotein, jaundice and abdominal pain.
Most common symptoms due to long-term history of chronic alcoholism include:
Vomiting after heavy drinking
Hepatomegaly, enlarged spleen, late cirrhosis
Skin and yellow sclera
Hemolytic Anemia, Hemoglobinuria (hemoglobin is excreted in urine) and Hemosiderin (insoluble form of storage iron complex) in urine.
Hepatic dysfunction, Jaundice, Hyperlipidemia and reversible hemolytic anemia after alcohol abuse are prominent symptoms.
Causes of Zieve's Syndrome
Zieve's syndrome is caused by alcoholism due to liver cell damage and various degrees of cholestasis thus causing cancer. Fatty liver production of free fatty acids into blood stream, increased triglycerides that causes hyperlipidemia and increased cholesterol and phospholipid deposition, and damaged red blood cells which become hard and brittle and blocked by splenic sinusoids. In addition, alcoholism induced pancreatitis and vitamin E deficiency is associated with hemolysis.
Diagnosis of Zieve's Syndrome
The diagnosis is based from objective information about alcoholism, and blood test for the abnormalities. It is based on history and the triple disease – jaundice, hemolytic anemia and hyperlipidaemia. For jaundice, moderate and direct bilirubin test is done. Hemolytic anemia is visible in hemoglobinuria and hemosiderin urine. There could be drop in hemoglobin, reticulocytes, bone marrow erythroblastic hyperplasia, and increased erythrocyte fragility and shortened life of red blood cells.
Hyperlipidemia is detected by increase in cholesterol, triglycerides and phospholipids. Diagnostic tests include hemoglobin, bone marrow examination, blood lipids including cholesterol, phospholipids, triglycerides, serum bilirubin, alkaline phosphatase, and liver function test and liver biopsy. Ultrasonography is done to reveal the syndrome. There could be rapid serum level rise after alcohol withdrawal in patients with denial of drinking.
Temperance for two to three weeks is essential for symptoms to disappear. A diet high in sugar-protein, vitamins and hepatoprotective drug is necessary. In addition to jaundice, treatment for high blood cholesterol and hemolytic anemia are essential. Basic therapy includes bed rest, adequate food intake, hydration and vitamin supplementation. The patient usually recovers from the symptoms very quickly, but the disease can recur if alcohol abuse persists.
Bibliography / Reference
Collection of Pages - Last revised Date: January 20, 2019