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| {{Infobox_Disease | | | __NOTOC__ |
| Name = {{PAGENAME}} |
| | {{Caroli's disease}} |
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| | {{CMG}}; {{AE}}[[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] {{AE}} {{RAB}} |
| Caption = |
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| DiseasesDB = 29874 |
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| ICD10 = |
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| OMIM = 600643 |
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| MedlinePlus = |
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| eMedicineSubj = ped |
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| eMedicineTopic = 325 |
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| eMedicine_mult = {{eMedicine2|radio|131}} |
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| MeshID = D016767 |
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| }}
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| {{SI}} | |
| {{CMG}} | |
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| {{SK}} Congenital dilatation of lobar intrahepatic bile duct, Caroli disease, Caroli syndrome | | {{SK}} [[Congenital dilatation of lobar intrahepatic bile duct]]; [[Caroli disease]]; [[Caroli syndrome]] |
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| {{EH}}
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| == Overview == | | ==[[Caroli's disease overview|Overview]]== |
| '''Caroli disease''' is a rare inherited disorder characterized by dilatation of the intrahepatic bile ducts. There are two types of Caroli disease, the most common being the simple, or isolated case where the bile ducts are widened by [[ectasia]]. The second, more complex, cause is commonly known as Caroli Syndrome. This complex form is also linked with portal [[hypertension]] and [[congenital hepatic fibrosis]].
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| <ref name=Karim>{{cite journal |author=Karim B |title=Caroli’s Disease Case Reports |journal=Indian Pediatrics |volume=41 |issue= 8|pages=848–50 |month=August |year=2007 |url=http://www.indianpediatrics.net/aug2004/848.pdf|format=PDF |pmid=15347876}}</ref> The differences between the causes of the two cases have not yet been discovered. Caroli disease is also associated with [[liver failure]] and [[polycystic kidney disease]].
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| <ref name=EMedRad>{{EMedicine|radio|131|Romano WJ: Caroli Disease}}</ref>
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| Caroli disease also is known as communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic [[biliary tree]]. Caroli disease is distinct from other diseases that cause ductal dilatation caused by obstruction, in that it is not one of the many [[choledochal cyst]] derivatives.
| | ==[[Caroli's disease historical perspective|Historical Perspective]]== |
| <ref name=Karim/>
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| ==Historical perspective==
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| Vachel and Stevens were the first to describe a case of cystic dilatation of the intrahepatic bile ducts in 1906, but Jacques Caroli in 1958 gave a more thorough description of a syndrome of '''congenital malformation of the intrahepatic ducts''' with segmental '''cystic dilatation''', increased '''biliary lithiasis''', '''cholangitis''' and '''liver abscesses''', associated with '''renal''' cystic disease or tubular ectasia.
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| ==Classification==
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| * Two subtypes of Caroli's disease have been described:
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| :* '''Simple type'''
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| :*:* As classically described, without cirrhosis or portal HTN
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| :*:* 60-80% associated with medullary sponge kidney
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| :* '''Periportal fibrosis type'''
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| :*:* Also associated with:
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| :*:*:* '''Congenital hepatic fibrosis''' – bland portal fibrosis, hyperproliferation of interlobular bile ducts within the portal areas, with variable shapes and size of bile ducts, and preservation of normal lobular architecture.
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| :*:*:* Cirrhosis
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| :*:*:* Portal hypertension (HTN)
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| :*:*:* Esophageal varices
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| :*:*:* Renal cystic lesions also often occur
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| :*:* Hepatic function is preserved in most, but many patients have recurrent cholangitis, liver abscesses and portal HTN.
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| :* The cysts are nonobstructive saccular or fusiform dilatations of the intrahepatic ducts.
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| :* The disease may be unilobar or bilobar. Unilobar disease is most commonly localized to the left lobe of the liver.
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| :* Some reviews have reported that pure Caroli’s disease is not that common, and more patients actually have Type IVA disease, with both intra- and extra-hepatic cysts.
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| :* Intrahepatic biliary cystic disease should be differentiated from polycystic liver disease, an autosomal dominant disorder characterized by cystic collections of serous fluid not in communication with the biliary tree.
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| :* The incidence of malignant transformation in intrahepatic cysts is ~7% in Caroli’s disease.
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| == Pathophysiology==
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| Autosomal dominant familial inheritance of Caroli’s disease has been described in one family with autosomal dominant polycystic kidney disease. Autosomal recessive inheritance has also been described.
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| === Biliary Cysts ===
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| * Biliary cysts have been described throughout the biliary system, and are classified according to their location and anatomy.
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| * Many biliary cysts are congenitally acquired, perhaps as a consequence of unequal proliferation of epithelial cells during embryonic biliary duct development. Some biliary cysts are acquired, and some may develop in association with anatomic variations that lead to abnormally high ductal pressures in association with other predisposing factors.
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| * '''Type I''' (75-85%)
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| *:* '''Choledochal cysts''' - cystic dilatation of the common bile duct (CBD)
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| *:*:* Often presents during infancy with significant liver disease.
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| * '''Type II''' (2-3%)
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| *:* '''Diverticulae''' anywhere in the extrahepatic ducts.
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| *:*:* Presenting symptoms’s may reflect cystic compression of nearby structures.
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| * '''Type III''' (1-5%)
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| *:* '''Choledochocele cysts'''
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| *:*:* Often present with pain and obstructive jaundice; many have pancreatitis.
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| * '''Type IV''' (18-20%)
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| *:* IVA – Multiple cysts in the '''Intra'''- and '''Extra'''-hepatic ducts
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| *:* IVB – Multiple cysts in the '''Extra'''-hepatic ducts only
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| * '''Type V''' – '''Caroli’s Disease''' - rare
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| *:* Single or Multiple Intrahepatic bile duct cysts
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| ==Causes== | | ==[[Caroli's disease classification|Classification]]== |
| The cause appears to be genetic; the simple form is an [[autosomal dominant]] trait while the complex form is an [[autosomal recessive]] trait.<ref name=Karim/> Females are more prone to Caroli disease than males.<ref name=Kahn/> Family history may include kidney and liver disease due to the link between Caroli Disease and [[ARPKD]].<ref name=EMedPed/> [[PKHD1]], the gene linked to ARPKD, has been found mutated in patients with Caroli syndrome. PKHD1 is expressed primarily in the kidneys with lower levels in the [[liver]], [[pancreas]], and [[lungs]], a pattern consistent with phenotype of the disease, which primarily affects the liver and [[kidneys]].<ref name=Karim/><ref name=EMedPed/> The genetic basis for the difference between Caroli disease and Caroli syndrome has not been defined.
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| == Differential Diagnosis == | | ==[[Caroli's disease pathophysiology|Pathophysiology]]== |
| * Biliary cysts are often not listed in the differential diagnosis of biliary obstruction (note their conspicuous absence from my report on cholangitis), so they are often not thought of until they are found at surgery or during imaging procedures.
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| == Epidemiology and Demographics ==
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| The disease is uncommon, with about 180 cases reported in the literature.
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| The disease affects about 1 in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease.
| | ==[[Caroli's disease causes|Causes]]== |
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| Biliary cysts are more common in Japan and in young women.
| | ==[[Caroli's disease differential diagnosis|Differentiating Caroli's disease from other Diseases]]== |
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| Equal prevalence in men and women.
| | ==[[Caroli's disease epidemiology and demographics|Epidemiology and Demographics]]== |
| ==Diagnosis==
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| * Patients often present in young adulthood
| | ==[[Caroli's disease natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| :* 80% present before 30 years of age.
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| * '''Cholangitis'''
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| :* Patients often present with recurrent episodes of fever/chills and '''abdominal pain''' due to cholangitis.
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| * '''Biliary lithiasis'''
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| :* Occurs in about a third.
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| * '''Portal HTN''' and '''Varices'''
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| :* Occasionally patients will present later in life with sequelae of liver disease and portal HTN.
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| * '''Ductal rupture'''
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| *:* Has been described with intrahepatic as well as extrahepatic bile duct cysts. This can result in peritonitis.
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| * '''Liver abscess'''
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| :* Can occur in association with the intrahepatic cysts, abnormal biliary flow, cholangitis, and/or stone disease.
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| * '''Malignancy'''
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| :* Is more common in the affected tissues, including cancer of the gall bladder, biliary tree, and liver.
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| :* This often occurs in patients ~50 years of age, about 2 decades before the mean age of carcinoma in the general population, and at a much higher rate (~7%) than the general population.
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| :* The reason for this increase in carcinoma is not clear, but may occur in association with pancreatic/biliary regurgitation.
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| :* Removal of cysts does not necessarily reduce the risk.
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| :* Once malignancy develops, prognosis is dismal.
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| * '''Renal tubular ectasia''' or '''renal cystic disease'''
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| :* More common in these patients.
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| ==Diagnosis== | | ==Diagnosis== |
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| === MRI and CT ===
| | [[Caroli's disease history and symptoms|History and Symptoms]] | [[Caroli's disease physical examination|Physical Examination]] | [[Caroli's disease laboratory findings|Laboratory Findings]] | [[Caroli's disease CT|CT]] | [[Caroli's disease MRI|MRI]] | [[Caroli's disease echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Caroli's disease other imaging findings|Other Imaging Findings]] |
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| * Abdominal CT scans are also often diagnostic.
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| === Echocardiography or Ultrasound ===
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| * Ultrasound is often adequate for the diagnosis of biliary cysts, except for Type III choledochoceles. Biliary cysts can often even be picked up in utero.
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| === Other Imaging Findings ===
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| * Cholescintigraphy (HIDA) scans are also quite useful for all but Type III choledochoceles. Findings include biliary tract dilatation and tracer retention after 24 hours. It gives data on excretory function, which is also useful post surgical repair.
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| * Endoscopic Retrograde Cholangio-Pancreatography (ERCP) provides excellent visualization.
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| * ERCP is particularly useful for type III choledochoceles, demonstrating a clubbed distal common bile duct (CBD) and a round, cyst-like, contrast-filled structure in the terminal CBD often extending into the duodenal lumen.
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| * Magnetic resonance cholangiopancreatography (MRCP) is also a available for evaluation.
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| == Treatment == | | ==Treatment== |
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| * '''Intrahepatic biliary''' cyst treatment depends on degree of involvement.
| | [[Caroli's disease medical therapy|Medical Therapy]] | [[Caroli's disease surgery|Surgery]] | [[Caroli's disease prevention|Prevention]] | [[Caroli's disease cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Caroli's disease future or investigational therapies|Future or Investigational Therapies]] |
| *:* Segmental disease can be potentially cured with '''lobectomy'''. The risks and benefits of undergoing this surgery, versus the associated risks of future cholangitis, stone disease, pancreatitis, and liver abscess if not treated surgically have to be weighed in individual patients.
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| *:* If both lobes are involved, surgical resection may not be an option.
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| *:*:* If patients have recurrent cholangitis, a trial of prophylactic antibiotics could be considered.
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| *:*:* '''Liver transplant''' is a final option.
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| *:* '''Cholecystectomy''' is indicated because it reduces the likelihood of cholangitis, and because the gallbladder is at increased risk of malignancy in patients with biliary cysts.
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| *:* A report in the Lancet describes a significant improvement in stone disease in Caroli’s disease patients treated with ursodeoxycholic acid (Actigall) 10-20 mg/kg/d.
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| * '''Extrahepatic biliary cysts''' are often treated with surgical repair due to risks of cyst rupture with secondary peritonitis, cholangitis and liver cirrhosis.
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| *:* Surgical options include primary cyst excision, and internal drainage procedures, such as choledochoduodenostomy and Roun-en-Y choledochojejunostomy. The down sides of internal drainage include a high complication rate and risk of malignancy in the abnormal region (2.5%).
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| ==References== | | ==Case Studies== |
| {{Reflist|2}}
| | [[Caroli's disease case study one|Case #1]] |
| #caroli Caroli, J, et al. La dilatation polykystique congenitale des voies biliaires intrahepatiques. Essai del classification. Sem Hop Paris 1958;34:488.
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| #lu Lu, S.C. et al. Diseases of the biliary tree. Textbook of Gastroenterology 1995:2212.
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| #tandon PMID=2301339 Tandon, RK, et al. Caroli’s disease: A heterogeneous entity. Amer J Gastroent 1990;85:170.
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| #chalasani pmid=9177539 Chalasani, N, et al. Spontaneous rupture of a bile duct. Amer J Gastroent 1997;92:1062.
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| #miller pmid=7618550 Miller, WJ, et al. Imaging findings in Caroli’s disease. Am J Roenth 1995;165:333.
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| #torra pmid=9211343 Torra, R, et al. Autosomal dominant polycystic kidney disease and Caroli’s disease. Kidney Int 1997;52:33.
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| #ros pmid=8101905 Ros, E, et al. Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli’s syndrome. Lancet 1993;342:404. | |
| {{refend}}
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