Caroli's Syndrome

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.

Bile Duct Cancer

Bile is an important digestive juice produced by the liver and stored in the gall bladder. The bile duct is a tube that runs from the liver and the gall bladder to the intestines and transports the bile to the intestines for digestion. Bile duct cancer is the development of tumors in the bile duct that blocks the tube and thus prevents the bile from flowing into the small intestine. Then the active ingredient bilirubin present in the bile begins to accumulate in the blood resulting in jaundice. Apart from jaundice, bile duct cancer may also present with the following symptoms:

• Itching of skin
  
• Light colored stools
  
• Dark urine
  
• Loss of appetite
  
• Abdominal pain
  
• weight loss

Risk factors

People with chronic inflammation of the bile duct have an increased risk of developing bile duct cancer. Bile duct stones, ulcerative colitis and an auto immune disease called primary sclerosing cholangitis (PSC) are some of the conditions that cause inflammation of the bile duct and scarring.

Polycystic liver disease, pancreatitis, irritable bowel syndrome and a congenital defect called Caroli's syndrome may also increase a person's bile duct cancer risks. People of Asian and Middle Eastern countries are prone to parasitic infection with a parasite called liver fluke. It is a water-borne parasite that can infect the bile duct and and cause cancer.

Aging and obesity also fall under the risk factors for bile duct cancer.

Diagnosis of bile duct cancer

Blood tests, diagnostic imaging tests and biopsy are the common methods followed to diagnose bile duct cancer. Blood tests are ordered to evaluate the functioning of the liver and gall bladder. Excess bilirubin in the blood indicates that there may be a problem with the gall bladder, liver or bile ducts. Liver function tests may be conducted to test for albumin, alkaline phosphatase, AST, ALT, and GGT.

Further, imaging tests like ultrasound, MRI, CT scan and Cholangiography are advised to reveal the presence of bile duct blockage and tumor through specialized X-ray images. Cholangiography is a highly sophisticated test that specifically looks into the bile duct to detect abnormalities. Different types of procedures are conducted using Cholangiography such as Endoscopic retrograde cholangiopancreatography (ERCP), Magnetic resonance cholangiopancreatography (MRCP) and Percutaneous transhepatic cholangiography (PTC).

Though imaging tests reveal the presence of tumor in the bile duct, it can only be confirmed through biopsy. Biopsy involves obtaining a small sample tissue from the tumor and examining it under a microscope. Biopsy also identifies the type of the tumor.

Treatment of bile duct cancer

1.Surgery
2.Radiation treatment
3.Chemotherapy
4.Palliative care

Surgery for the bile duct cancer is a complicated procedure due to its location in the body. Moreover surgery as a method of treatment is opted depending upon the location of the tumor and the extent of spread of the cancer. The surgical oncologist chooses to perform surgery only if he thinks the tumor can be removed successfully. In some cases the surgery may allow only a partial removal of the tumor, yet the surgeon may go ahead with the operation with the intention of relieving the patient of the symptoms of cancer and improve the quality of life. Few cases require a placement of metallic or a plastic stent to keep the bile duct open.

When the surgery is not the choice of treatment, oncologists opt for radiation therapy and chemotherapy. Very often, surgery is also followed by radiation therapy and chemotherapy to prevent the cancer from recurring.