Caroli disease: Difference between revisions
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{{Short description|A rare congenital disorder affecting the bile ducts}} | {{Short description|A rare congenital disorder affecting the bile ducts}} | ||
{{Use dmy dates|date=October 2023}} | {{Use dmy dates|date=October 2023}} | ||
{{Infobox medical condition (new) | |||
| name = Caroli disease | |||
| synonyms = Caroli syndrome (if associated with congenital hepatic fibrosis) | |||
| image = MRI of Caroli disease (b).jpg | |||
| caption = [[Turbo spin echo]] T2-weighted axial MRI of Caroli disease, showing cystic dilatations of bile ducts (shown as white). | |||
| pronounce = | |||
| field = [[Gastroenterology]], [[Hepatology]], [[Genetics]] | |||
| symptoms = [[Abdominal pain]], [[fever]], [[jaundice]], [[hepatomegaly]] | |||
| complications = [[Cholangitis]], [[intrahepatic gallstones]], [[biliary cirrhosis]], [[cholangiocarcinoma]] | |||
| onset = Usually in childhood or early adulthood | |||
| duration = Lifelong | |||
| types = Caroli disease (isolated bile duct dilation), Caroli syndrome (with congenital hepatic fibrosis) | |||
| causes = Congenital malformation of the bile ducts | |||
| risks = Autosomal recessive inheritance (commonly associated with [[PKHD1]] gene mutation) | |||
| diagnosis = [[MRI]], [[ultrasound]], [[CT scan]], [[ERCP]] | |||
| differential = [[Primary sclerosing cholangitis]], [[choledochal cyst]], [[biliary atresia]] | |||
| prevention = None known | |||
| treatment = Management of complications, surgical resection (in localized disease), liver transplant (in severe cases) | |||
| medication = [[Antibiotics]] for cholangitis, [[ursodeoxycholic acid]] for bile flow | |||
| prognosis = Variable; depends on complications and extent of liver involvement | |||
| frequency = Rare | |||
| deaths = Related to complications like cholangitis or liver failure | |||
}} | |||
[[File:Pkhd1 gene.jpeg|left|thumb| | |||
'''Figure 2''' Location of the ''PKHD1'' gene on [[chromosome 6]], short (p) arm | |||
]] | |||
[[File:MRCP of Caroli disease.jpg|thumb|left|[[Magnetic resonance cholangiopancreatography]] (MRCP) of Caroli disease, showing cystic dilatations of bile ducts.]] | |||
'''Caroli disease''' is a rare [[congenital disorder]] characterized by the dilation of the [[bile ducts]] within the [[liver]]. It is a type of [[fibropolycystic liver disease]] and is associated with complications such as [[cholangitis]], [[liver abscesses]], and an increased risk of [[cholangiocarcinoma]]. | '''Caroli disease''' is a rare [[congenital disorder]] characterized by the dilation of the [[bile ducts]] within the [[liver]]. It is a type of [[fibropolycystic liver disease]] and is associated with complications such as [[cholangitis]], [[liver abscesses]], and an increased risk of [[cholangiocarcinoma]]. | ||
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* [[Fibropolycystic liver disease]] | * [[Fibropolycystic liver disease]] | ||
== External links == | |||
{{Medical resources | |||
| DiseasesDB = 29874 | |||
| ICD10 = | |||
| ICD9 = | |||
| ICDO = | |||
| OMIM = 263200 | |||
| MedlinePlus = | |||
| eMedicineSubj = radio | |||
| eMedicineTopic = 131 | |||
| eMedicine_mult = {{eMedicine2|ped|325}} | |||
| MeshID = D016767 | |||
}} | |||
{{Cystic diseases}} | |||
{{Congenital malformations and deformations of digestive system}} | |||
{{Ciliopathy}} | |||
{{DEFAULTSORT:Caroli Disease}} | |||
[[Category:Ciliopathy]] | |||
[[Category:Hepatology]] | |||
[[Category:Rare diseases]] | |||
[[Category:Syndromes affecting the hepatobiliary system]] | |||
[[Category:Syndromes with tumors]] | |||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 14:40, 24 March 2025
A rare congenital disorder affecting the bile ducts
| Caroli disease | |
|---|---|
.jpg)
| |
| Synonyms | Caroli syndrome (if associated with congenital hepatic fibrosis) |
| Pronounce | |
| Field | Gastroenterology, Hepatology, Genetics |
| Symptoms | Abdominal pain, fever, jaundice, hepatomegaly |
| Complications | Cholangitis, intrahepatic gallstones, biliary cirrhosis, cholangiocarcinoma |
| Onset | Usually in childhood or early adulthood |
| Duration | Lifelong |
| Types | Caroli disease (isolated bile duct dilation), Caroli syndrome (with congenital hepatic fibrosis) |
| Causes | Congenital malformation of the bile ducts |
| Risks | Autosomal recessive inheritance (commonly associated with PKHD1 gene mutation) |
| Diagnosis | MRI, ultrasound, CT scan, ERCP |
| Differential diagnosis | Primary sclerosing cholangitis, choledochal cyst, biliary atresia |
| Prevention | None known |
| Treatment | Management of complications, surgical resection (in localized disease), liver transplant (in severe cases) |
| Medication | Antibiotics for cholangitis, ursodeoxycholic acid for bile flow |
| Prognosis | Variable; depends on complications and extent of liver involvement |
| Frequency | Rare |
| Deaths | Related to complications like cholangitis or liver failure |
Caroli disease is a rare congenital disorder characterized by the dilation of the bile ducts within the liver. It is a type of fibropolycystic liver disease and is associated with complications such as cholangitis, liver abscesses, and an increased risk of cholangiocarcinoma.
Pathophysiology[edit]
Caroli disease results from a developmental defect in the remodeling of the ductal plate, which is the embryonic precursor to the bile ducts. This defect leads to the segmental dilation of the intrahepatic bile ducts. The disease is often associated with congenital hepatic fibrosis, which can lead to portal hypertension.
Clinical Presentation[edit]
Patients with Caroli disease may present with recurrent episodes of abdominal pain, fever, and jaundice due to biliary stasis and cholangitis. The disease can also lead to the formation of bile duct stones and liver abscesses.
Diagnosis[edit]
The diagnosis of Caroli disease is typically made using imaging studies. Ultrasound and magnetic resonance cholangiopancreatography (MRCP) are commonly used to visualize the characteristic "central dot sign," which represents the dilated bile ducts surrounding a portal vein branch. Computed tomography (CT) scans can also be used to assess the extent of ductal dilation and associated complications.
Management[edit]
Management of Caroli disease focuses on treating complications and preventing recurrent infections. Antibiotics are used to treat cholangitis, and ursodeoxycholic acid may be prescribed to improve bile flow. In severe cases, surgical interventions such as hepatic resection or liver transplantation may be necessary.
Prognosis[edit]
The prognosis of Caroli disease varies depending on the extent of liver involvement and the presence of complications. Patients with isolated Caroli disease generally have a better prognosis than those with associated congenital hepatic fibrosis. The risk of developing cholangiocarcinoma is increased in individuals with Caroli disease.
Related pages[edit]
External links[edit]
| Cystic diseases | ||||||||||
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| Congenital malformations and deformations of digestive system | ||||||||||||||
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| Diseases of cilia | ||||||
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See also: ciliary proteins
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