| Bile duct hamartoma | |
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| Histopathology of a bile duct hamartoma, low magnification, H&E stain, showing a well demarcated lesion. |
Bile duct hamartoma or biliary hamartoma, are benign lesions of the intrahepatic bile duct. [1] They are classically associated with polycystic liver disease, as may be seen in the context of polycystic kidney disease, and represent a malformation of the liver plate. [2]
Most patients are asymptomatic. When patients do present with symptoms the most common symptom is abdominal pain. Other symptoms include fever, weight loss, and jaundice. [1]
Biliary duct hamartomas are defects resulting from the failure of embryonic bile duct involution that affect the small interlobular bile ducts. Patients with polycystic kidney disease and polycystic liver are far more likely to have them. [1]
Laboratory findings include high transaminase levels, raised gamma-glutamyl transferase or alkaline phosphatase levels, increased C-reactive protein, hypoalbuminemia, and hematologic abnormalities like thrombocytopenia, leukopenia, leukocytosis, and anemia. [1]
At CT scans, bile duct hamartomas appear as small, well-defined hypo- or isoattenuating masses with little or no enhancement after contrast administration. [3] At MRI, they appear hypointense on T1-weighted images, iso- or slightly hyperintense on T2-weighted images, and hypointense after administration of gadolinium based contrast-agent. [3]
The eponymous terms (von Meyenburg complex, Meyenburg complex) are named for Hanns von Meyenburg. [4] [5]
A cyst, also traditionally known from Old English as a wen, is a closed sac, having a distinct envelope and division compared with the nearby tissue. Hence, it is a cluster of cells that have grouped together to form a sac ; however, the distinguishing aspect of a cyst is that the cells forming the "shell" of such a sac are distinctly abnormal when compared with all surrounding cells for that given location. A cyst may contain air, fluids, or semi-solid material. A collection of pus is called an abscess, not a cyst. Once formed, a cyst may resolve on its own. When a cyst fails to resolve, it may need to be removed surgically, but that would depend upon its type and location.
In vertebrates, the gallbladder, also known as the cholecyst, is a small hollow organ where bile is stored and concentrated before it is released into the small intestine. In humans, the pear-shaped gallbladder lies beneath the liver, although the structure and position of the gallbladder can vary significantly among animal species. It receives bile, produced by the liver, via the common hepatic duct, and stores it. The bile is then released via the common bile duct into the duodenum, where the bile helps in the digestion of fats.
Caroli disease is a rare inherited disorder characterized by cystic dilatation of the bile ducts within the liver. There are two patterns of Caroli disease: focal or simple Caroli disease consists of abnormally widened bile ducts affecting an isolated portion of liver. The second form is more diffuse, and when associated with portal hypertension and congenital hepatic fibrosis, is often referred to as "Caroli syndrome". The underlying differences between the two types are not well understood. Caroli disease is also associated with liver failure and polycystic kidney disease. The disease affects about one in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease.
Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. It can be congenital or acquired. It has an incidence of one in 10,000–15,000 live births in the United States, and a prevalence of one in 16,700 in the British Isles. Biliary atresia is most common in East Asia, with a frequency of one in 5,000.
Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver. It results from a slow, progressive destruction of the small bile ducts of the liver, causing bile and other toxins to build up in the liver, a condition called cholestasis. Further slow damage to the liver tissue can lead to scarring, fibrosis, and eventually cirrhosis.
Primary sclerosing cholangitis (PSC) is a long-term progressive disease of the liver and gallbladder characterized by inflammation and scarring of the bile ducts, which normally allow bile to drain from the gallbladder. Affected individuals may have no symptoms or may experience signs and symptoms of liver disease, such as yellow discoloration of the skin and eyes, itching, and abdominal pain.
Common bile duct stone, also known as choledocholithiasis, is the presence of gallstones in the common bile duct (CBD). This condition can cause jaundice and liver cell damage. Treatments include choledocholithotomy and endoscopic retrograde cholangiopancreatography (ERCP).
Alagille syndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000 to 1 in every 40,000 live births. It is named after the French pediatrician Daniel Alagille, who first described the condition in 1969.
A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell (monoclonality), as would typically define a benign neoplasm/tumor. Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term hamartoma is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies.
Cholestasis is a condition where the flow of bile from the liver to the duodenum is impaired. The two basic distinctions are:
Ascending cholangitis, also known as acute cholangitis or simply cholangitis, is inflammation of the bile duct, usually caused by bacteria ascending from its junction with the duodenum. It tends to occur if the bile duct is already partially obstructed by gallstones.
Neonatal cholestasis refers to elevated levels of conjugated bilirubin identified in newborn infants within the first few months of life. Conjugated hyperbilirubinemia is clinically defined as >20% of total serum bilirubin or conjugated bilirubin concentration greater than 1.0 mg/dL regardless of total serum bilirubin concentration. The differential diagnosis for neonatal cholestasis can vary extensively. However, the underlying disease pathology is caused by improper transport and/or defects in excretion of bile from hepatocytes leading to an accumulation of conjugated bilirubin in the body. Generally, symptoms associated with neonatal cholestasis can vary based on the underlying cause of the disease. However, most infants affected will present with jaundice, scleral icterus, failure to thrive, acholic or pale stools, and dark urine.
Abdominal ultrasonography is a form of medical ultrasonography to visualise abdominal anatomical structures. It uses transmission and reflection of ultrasound waves to visualise internal organs through the abdominal wall. For this reason, the procedure is also called a transabdominal ultrasound, in contrast to endoscopic ultrasound, the latter combining ultrasound with endoscopy through visualize internal structures from within hollow organs.
Choledochal cysts are congenital conditions involving cystic dilatation of bile ducts. They are uncommon in western countries but not as rare in East Asian nations like Japan and China.
Congenital hepatic fibrosis is an inherited fibrocystic liver disease associated with proliferation of interlobular bile ducts within the portal areas and fibrosis that do not alter hepatic lobular architecture. The fibrosis would affect resistance in portal veins leading to portal hypertension.
Biliary dyskinesia is a disorder of some component of biliary part of the digestive system in which bile cannot physically move in the proper direction through the tubular biliary tract. It most commonly involves abnormal biliary tract peristalsis muscular coordination within the gallbladder in response to dietary stimulation of that organ to squirt the liquid bile through the common bile duct into the duodenum. Ineffective peristaltic contraction of that structure produces postprandial right upper abdominal pain (cholecystodynia) and almost no other problem. When the dyskinesia is localized at the biliary outlet into the duodenum just as increased tonus of that outlet sphincter of Oddi, the backed-up bile can cause pancreatic injury with abdominal pain more toward the upper left side. In general, biliary dyskinesia is the disturbance in the coordination of peristaltic contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree into the duodenum.
Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the PKHD1 cause ARPKD.
Sphincter of Oddi dysfunction refers to a group of functional disorders leading to abdominal pain due to dysfunction of the Sphincter of Oddi: functional biliary sphincter of Oddi and functional pancreatic sphincter of Oddi disorder. The sphincter of Oddi is a sphincter muscle, a circular band of muscle at the bottom of the biliary tree which controls the flow of pancreatic juices and bile into the second part of the duodenum. The pathogenesis of this condition is recognized to encompass stenosis or dyskinesia of the sphincter of Oddi ; consequently the terms biliary dyskinesia, papillary stenosis, and postcholecystectomy syndrome have all been used to describe this condition. Both stenosis and dyskinesia can obstruct flow through the sphincter of Oddi and can therefore cause retention of bile in the biliary tree and pancreatic juice in the pancreatic duct.
Vanishing bile duct syndrome is a loose collection of diseases which leads to the injury to hepatic bile ducts and eventual ductopenia.
A biloma is a circumscribed abdominal collection of bile outside the biliary tree. It occurs when there is excess bile in the abdominal cavity. It can occur during or after a bile leak. There is an increased chance of a person developing biloma after having a gallbladder removal surgery, known as laparoscopic cholecystectomy. This procedure can be complicated by biloma with incidence of 0.3–2%. Other causes are liver biopsy, abdominal trauma, and, rarely, spontaneous perforation. The formation of biloma does not occur frequently. Biliary fistulas are also caused by injury to the bile duct and can result in the formation of bile leaks. Biliary fistulas are abnormal communications between organs and the biliary tract. Once diagnosed, they usually require drainage. The term "biloma" was first coined in 1979 by Gould and Patel. They discovered it in a case with extrahepatic bile leakage. The cause of this was trauma to the upper right quadrant of the abdomen. Originally, biloma was described as an "encapsulated collection" of extrahepatic bile. Biloma is now described as extrabiliary collections of bile that can be either intrahepatic or extrahepatic. The most common cause of biloma is trauma to the liver. There are other causes such as abdominal surgery, endoscopic surgery and percutaneous catheter drainage. Injury and abdominal trauma can cause damage to the biliary tree. The biliary tree is a system of vessels that direct secreations from the liver, gallbladder, and pancreas through a series of ducts into the duodenum. This can result in a bile leak which is a common cause of the formation of biloma. It is possible for biloma to be associated with mortality, though it is not common. Bile leaks occur in about one percent of causes.