Introduction:
Carolis disease is a genetically (got it from parents) acquired, rare congenital disease (a disease that occurs since birth). It appears in children and young adults. Carolis disease is connected with cystic renal disease (due to a cyst development in the kidney or its surrounding structures, multiple disease or condition arises). It causes the widening of the large hepatic ducts (right and left hepatic ducts and segmental ducts).
What Causes Carolis Disease?
Carolis disease is caused by a mutation in the gene PKHD1 (polycystic kidney and hepatic disease 1). This gene is responsible for the production of proteins that plays an important role in forming bile ducts and kidneys. Mutation in these genes causes polycystic kidney disease.
Why Is the Disease Named Carolis Disease?
This disease was first reported by the French doctor Dr. Jacques Caroli in 1958.
What Are the Types of Carolis Disease?
-
Type I, Simple Carolis Disease: It is cystic dilatation (dilation of the duct due to a bile duct cyst)of the bile ducts.
-
Type II, Complex Carolis Disease: It is commonly known as Carolis syndrome.
What Are the Symptoms of Carolis Disease?
-
Jaundice (the skin and eyes become yellow in color).
-
Pain in the right upper region of the stomach.
-
Fever.
-
Anorexia (loss of appetite).
-
Ascites (accumulation of fluid in the stomach).
What Tests Are Used to Find Carolis Disease?
-
Physical Examination: The doctor will examine the abdomen to check for the presence of any mass, hepatomegaly (liver enlargement), splenomegaly (enlarged spleen), and check for pain while touching the abdomen.
-
Complete Blood Count (CBC): Complete blood count is done to screen certain parameters like platelets, red blood cells, white blood cells, and hemoglobin to check for changes in their normal values.
-
Serum Bilirubin Test: Bilirubin is a yellowish-orange pigmented fluid that is produced by the liver when the red blood cells metabolize. Eliminating bilirubin from the body is one of the activities of the liver. The levels of bilirubin are generally within the normal limits of Caroli’s disease.
-
Serum Aminotransferases or Transaminase: Transaminases are enzymes that play a role in speeding up the conversion of alpha-amino acids (which help break down food during digestion). The levels of aminotransferase are increased during liver injury. The damaged liver cells release these enzymes into the blood circulation. As a result, serum aminotransferase levels are elevated in Carolis disease.
-
Prothrombin Time (PT): The time taken for blood clotting to commence is called prothrombin time. Clotting is the thickening of the blood. Vitamin K and fibrinogen (a type of protein) play a role in blood clotting. The prothrombin time is prolonged in Carolis disease.
-
Creatinine Test: A creatinine test is performed to check kidney function. Creatinine is a chemical substance produced by the muscles during the energy production process. It is excreted in the urine.
-
Blood Urea Nitrogen Test: It is a blood test that measures the presence of urea nitrogen in the blood. During protein digestion, a waste product called urea is released. These tests reveal whether the kidney is functioning efficiently or not.
-
Carbohydrate Antigen 19-9 (CA 19-9): Carbohydrate antigen is a protein present in the blood. The elevated levels of CA19-9 indicate a benign disease.
-
Carcinoembryonic Antigen (CEA): Carcinoembryonic antigen is a protein present in a developing baby’s tissues. These proteins usually disappear, or the level becomes low after birth. Elevated levels of CEA (carcinoembryonic antigen) in an adult indicate the presence of carcinoma.
-
Ultrasonography: This technique uses high-frequency sound waves to capture images of internal organs. It will show the dilatations in the large hepatic duct.
-
CT Scan: Computerized tomography (CT) is a type of imaging method that uses a computer to create cross-sectional X-ray pictures of interior organs from various angles. It provides a thorough perspective of the intended structure so any abnormalities can be seen.
-
Magnetic Resonanace Imaging (MRI) Scan: The internal organs and tissues of the body are imaged using a combination of magnetic fields and radio waves that are computer generated. It provides a comprehensive overview of the structure or the organ.
-
Endoscopic Retrograde Cholangiopancreatography (ERCP): It is a technique that uses a combination of endoscopy and X-rays to view the abnormalities and treat abnormalities in the bile duct, pancreas, gallbladder, and liver. Endoscopy is a thin, flexible tube with a light and a camera inserted through the mouth to view the internal organs.
-
Percutaneous Transhepatic Cholangiography (PTHC): It uses a combination of X-ray radiation and ultrasound waves to view the biliary tract (the draining system of the liver and gallbladder) internally by injecting a contrast dye (gadolinium or iodine). It is a minimally invasive procedure.
-
Magnetic Resonance Cholangiopancreatography (MRCP): This imaging technique uses high-frequency radio waves in a magnetic resonance field to capture images of the internal structures and view the bile duct.
How Is Carolis Disease Treated?
-
Medication: Medications like Ursodeoxycholicacid reduce the cholesterol levels and scatter the cholesterol causing the stones (hardened gastric juice) to break. Ursodeoxycholic acid is a bile acid present in the human body naturally.
-
Antibiotics: Broad-spectrum antibiotics like Cephalosporin, Aminoglycoside, and man-made Penicillins are administered for infections in cholangitis cases.
-
Surgical Resection: Surgical resection will be considered if there is monolobar (single lobe) involvement. Surgery depends on the site of the dilated duct. For example, the right part will be resected if the dilated duct is on the right side of the liver.
-
Hepaticojejunostomy: This surgical procedure provides a connection between the jejunum (middle part of the small intestine) and the hepatic duct. This provides the biliary tract with obstacle-free drainage.
-
Orthotopic Liver Transplant: Liver transplantation is recommended when the disease is spread diffusely in the liver. The liver is replaced completely, or a portion of the diseased liver is replaced by a liver from a healthy donor.
Does Carolis Disease Affect the Whole Liver?
No, a few studies suggest that Carolis disease usually affects the liver’s left lobe. It can either be localized to a particular site or diffused.
Are Carolis Disease and Carolis Syndrome Same?
No, Carolis disease only causes bile duct ectasia (widening) and does not cause any other liver problems. However, Carolis syndrome is associated with both Carolis disease and liver cirrhosis (replacement of healthy liver cells by scar tissues).
What Are the Complications of Carolis Disease?
-
Cholelithiasis: It is the formation of stones in the gallbladder. These stones are hard digestive fluid (gastric juice) deposits.
-
Cholangitis: It is the inflammation or swelling of the bile duct system due to an infection.
-
Sepsis: It is a life-threatening condition when the body damages its tissues as a response to infections.
-
Cholangiocarcinoma: It is a cancer of the bile duct.
-
Portal Hypertension: It is increased pressure in the portal vein, the main blood vessel that carries blood to the gastrointestinal tract, gallbladder, pancreas, and spleen to the liver.
Conclusion:
Carolis disease is a genetically inherited disease when both parents have a defective gene mutation PKHD1. The symptoms appear both in children and in young adults aged 30 years. Visit the doctor immediately if the patient develops any of the symptoms, like pain in the upper right region of the abdomen or ascites, and has a family history of Carolis disease. This can reduce the risk of further complications like cholelithiasis. If the symptoms are ignored, and no proper treatment is started, the patient might develop cancer of the bile duct. Though this disease has a risk of recurrence and transforming into carcinoma, getting appropriate treatment from a medical practitioner will improve and increase the lifespan of the patient.
