Caroli disease

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Caroli disease
Other namesCongenital cystic dilatation of the intrahepatic biliar tree
Turbo spin echo T2-weighted axial MRI of Caroli disease, showing cystic dilatations of bile ducts (shown as white).[1][predatory publisher]
SpecialtyGastroenterology, medical genetics Edit this on Wikidata

Caroli disease (communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic biliary tree) is a rare inherited disorder characterized by cystic dilatation (or ectasia) 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".[2] 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.[3]

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.[2]

Signs and symptoms

The first symptoms typically include

gallstones, biliary abscess, sepsis, liver cirrhosis, kidney failure, and cholangiocarcinoma (7% affected).[2] People with Caroli disease are 100 times more at risk for cholangiocarcinoma than the general population.[4] After recognizing symptoms of related diseases, Caroli disease can be diagnosed.[citation needed
]

Morbidity is common and is caused by complications of cholangitis, sepsis,

choledocholithiasis, and cholangiocarcinoma.[5] These morbid conditions often prompt the diagnosis. Portal hypertension may be present, resulting in other conditions including enlarged spleen, hematemesis, and melena.[6] These problems can severely affect the patient's quality of life. In a 10-year period between 1995 and 2005, only 10 patients were surgically treated for Caroli disease, with an average patient age of 45.8 years.[5]

After reviewing 46 cases of Caroli disease before 1990, 21.7% of the cases were the result of an intrahepatic cyst or nonobstructive

biliary tree dilation, 34.7% were linked with congenital hepatic fibrosis, 13% were isolated choledochal cystic dilation, and the remaining 24.6% had a combination of all three.[7]

Causes

Figure 2 Location of the PKHD1 gene on chromosome 6, short (p) arm

The cause appears to be genetic; the simple form is an

kidneys.[2][6] The genetic basis for the difference between Caroli disease and Caroli syndrome has not been defined.[citation needed
]

Diagnosis

Magnetic resonance cholangiopancreatography (MRCP) of Caroli disease, showing cystic dilatations of bile ducts.[1][predatory publisher]

Modern imaging techniques allow the diagnosis to be made more easily and without invasive imaging of the biliary tree.

sonogram, so a CT scan is a good substitution. When the intrahepatic bile duct wall has protrusions, it is clearly seen as central dots or a linear streak.[10] Caroli disease is commonly diagnosed after this “central dot sign” is detected on a CT scan or ultrasound.[10] However, cholangiography is the best, and final, approach to show the enlarged bile ducts as a result of Caroli disease.[citation needed
]

Treatment

The treatment depends on clinical features and the location of the biliary abnormality. When the disease is localized to one hepatic lobe, hepatectomy relieves symptoms and appears to remove the risk of malignancy.[11] Good evidence suggests that malignancy complicates Caroli disease in roughly 7% of cases.[11]

Antibiotics are used to treat the inflammation of the bile duct, and ursodeoxycholic acid is used for hepatolithiasis.

orthotopic liver transplant is another option, used only when antibiotics have no effect, in combination with recurring cholangitis. With a liver transplant, cholangiocarcinoma is usually avoided in the long run.[12]

Family studies are necessary to determine if Caroli disease is due to inheritable causes. Regular follow-ups, including ultrasounds and liver biopsies, are performed.[citation needed]

Prognosis

Mortality is indirect and caused by complications. After

cholangitis occurs, patients typically die within 5–10 years.[3]

Epidemiology

Caroli disease is typically found in Asia, and diagnosed in persons under the age of 22. Cases have also been found in infants and adults. As medical imaging technology improves, diagnostic age decreases.[citation needed]

History

Jacques Caroli, a

gastroenterologist, first described a rare congenital condition in 1958 in Paris, France.[8][13]
He described it as "nonobstructive saccular or fusiform multifocal segmental dilatation of the intrahepatic bile ducts"; basically, he observed cavernous ectasia in the biliary tree causing a chronic, often life-threatening
hepatobiliary
disease.
Saint-Antoine in Paris. Before dying in 1979, he was honored with the rank of commander in the Legion of Honour in 1976.[13]

References

  1. ^
    PMID 20818116
    .
  2. ^
    PMID 15347876
    .
  3. ^ a b Romano WJ: Caroli Disease at eMedicine
  4. ^ a b c "Carolis disease". Medcyclopaedia. GE. Archived from the original on 2012-02-07.
  5. ^
    PMID 18345305
    .
  6. ^ a b c Friedman JR: Caroli Disease at eMedicine
  7. PMID 2294544
    .
  8. ^ a b Kahn, Charles E, Jr. January 2003. Collaborative Hypertext of Radiology. Medical College of Wisconsin. Archived September 29, 2008, at the Wayback Machine
  9. ^
    S2CID 28595781
    .
  10. ^
    S2CID 26652277
    .
  11. ^
    S2CID 11622337
    .
  12. PMID 12270398
    .
  13. ^
    Who Named It?
  14. PMID 7618550
    .

External links
Retrieved from "https://en.wikipedia.org/w/index.php?title=Caroli_disease&oldid=1158894942"