Clinical characteristics of Caroli’s disease

Caroli's disease is a rare congenital condition chara- cterized by non-obstructive saccular or fusiform dilatation of larger intrahepatic bile ducts. Cholangitis, liver cirrhosis, and cholangiocarcinoma are its potential complications. The diagnosis of Caroli's disease depends on demonstrating that the cystic lesions are in continuity with the biliary tree which can be showed by ultrasonography, computerized tomography, endoscopic retrograde cholangiopancreatography, percutaneous transhepatic cholangiography or magnetic resonance cholangiopancreatography. Treatment of Caroli's disease relies on the location of the biliary abnormalities. While localized forms confined to one lobe can be treated with surgery, liver transplantation is the only effective modality for diffuse forms. Although a rare disorder; Caroli's disease should always be considered in the differential diagnosis of chronic cholestasis of unknown cause.     

Cystic tumors of the liver： A practical approach

Biliary cyst tumors （cystadenoma and cystadenocarcinoma） are an indication for liver resection. They account for only 5% of all solitary cystic lesions of the liver, but differential diagnosis with multiloculated or complicated biliary cysts, atypical hemangiomas, hamartomas and lymphangiomas may be difficult. The most frequent challenge is to differentiate biliary cyst tumors from hemorrhagic cysts. Computerized tomography （CT） and magnetic resonance imaging （MRI） are often not diagnostic and in these cases fine needle aspiration （FNA） is used to confirm the presence of atypical biliary cells. FNA, however, lacks adequate sensitivity and specificity and should always be used in conjunction with imaging. Pre-operative differentiation of cystadenoma from cystadenocarcinoma is impossible and surgery must be performed if a biliary cyst tumor is suspected. When multiple cystic lesions are observed throughout the liver parenchyma, it is important to exclude liver metastasis, of which colonic cancer is the most common primary site. Multiple biliary hamartomas （von Meyenburg complex） can appear as a mixture of solid and cystic lesions and can be confused with cystic metastasis. Strong and uniform T2 hyperintensity on MRI is usually diagnostic, but occasionally a percutaneous biopsy may be required.     

Clinical characteristics of Caroli＇s syndrome

Caroli＇s syndrome is characterized by multiple segmental cystic or saccular dilatations of intrahepatic bile ducts associated with congenital hepatic fibrosis. The clinical features of this syndrome reflect both the characteristics of congenital hepatic fibrosis such as portal hypertension and that of Caroli＇s disease named as recurrent cholangitis and cholelithiasis. The diagnosis depends on both histology and imaging methods which can show the communication between the sacculi and the bile ducts. Treatment consists of symptomatic treatment of cholangitis attacks by antibiotics, some endoscopic, radiological and surgical drainage procedures and surgery. Liver transplantation seems the ultimate treatment for this disease. Prognosis is fairly good unless recurrent cholangitis and renal failure develops.     

Bile duct cyst in adults:Interventional treatment,resection,or transplantation?

Cystic dilatations of the bile ducts may be found along the extrahepatic biliary tree,within the liver,or in both of these locations simultaneously.Presentation in adults is often associated with complications.The therapeutic possibilities have changed considerably over the last few decades.If possible,complete resection of the cyst(s)can cure the symptoms and avoid the risk of malignancy.According to the type of bile duct cyst,surgical procedures include the Roux-en-Y hepaticojejunostomy and variable types of hepatic resection.However,the diffuse forms of Todani type Ⅴ cysts(Caroli disease and Caroli syndrome)in particular remain a therapeutic problem,and liver transplantation has become an important option.The mainstay of interventional treatment for Todani typeⅢbile duct cysts is via endoscopic retrograde cholangiopancreatography.The diagnostic term"bile duct cyst"comprises quite different pathological and clinical entities.Interventional therapy,hepatic resection,and liver transplantation all have their place in the treatment of this heterogeneous disease group.They should not be seen as competitive treatment modalities,but as complementary options.Each patient should receive individualized treatment after all of the clinical findings have been considered by an interdisciplinary team.     

Is liver biopsy necessary in the management of alcoholic hepatitis?

Acute alcoholic hepatitis(AAH)is characterised by deep jaundice in patients with a history of heavy alcohol use,which can progress to liver failure.A clinical diagnosis of AAH can be challenging to make in patients without a clear alcohol history or in the presence of risk factors for other causes of acute liver failure.Other causes of acute on chronic liver failure such as sepsis or variceal haemorrhage should be considered.Liver biopsy remains the only reliable method to make an accurate diagnosis.However,there is controversy surrounding the use of liver biopsy in patients with AAH because of the risks of performing a percutaneous biopsy and limitations in access to transjugular biopsy.We review the existing literature and find there are few studies directly comparing clinical and histological diagnosis of AAH.In the small number of studies that have been conducted the correlation between a clinical and histological diagnosis of AAH is poor.Due to this lack of agreement together with difficulties in accessing transjugular liver biopsy outside tertiary referral centres and research institutions,we cannot advocate universal biopsy for AAH but there remains a definite role for liver biopsy where there is clinical diagnostic doubt or dual pathology.Italso adds value in a clinical trial context to ensure a homogeneous trial population and to further our understanding of the disease pathology.Further prospective studies are required to determine whether non-invasive markers can be used to accurately diagnose AAH.     

Consequences of dysthyroidism on the digestive tract and viscera

Thyroid hormones define basal metabolism throughout the body, particularly in the intestine and viscera. Gastrointestinal manifestations of dysthyroidism are numerous and involve all portions of the tract. Thyroid hormone action on motility has been widely studied, but more complex pathophysiologic mechanisms have been indicated by some studies although these are not fully understood. Both thyroid hormone excess and deficiency can have similar digestive manifestations, such as diarrhea, although the mechanism is different in each situation. The liver is the most affected organ in both hypo- and hyperthyroidism. Specific digestive diseases may be associated with autoimmune thyroid processes, such as Hashimoto＇s thyroiditis and Grave＇s disease. Among them, celiac sprue and primary biliary cirrhosis are the most frequent although a clear common mechanism has never been proven. Overall, thyroid- related digestive manifestations were described decades ago but studies are still needed in order to confirm old concepts or elucidate undiscovered mechanisms. All practitioners must be aware of digestive symptoms due to dysthyroidism in order to avoid misdiagnosis of rare but potentially lethal situations.     

Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report

BACKGROUND Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria(EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the FECH gene. EPP combined with liver injury is even rarer.CASE SUMMARY This paper reports a case of EPP which was admitted to the hospital with abnormal liver function and diagnosed by repeated questioning of medical history, screening of common causes of severe liver injury, and second generation sequencing of the whole exon genome. We also summarize the clinical characteristics of EPP with liver injury, and put forward some suggestions on EPP to provide a reference for the diagnosis of such rare disease.CONCLUSION A new mutation locus(c.32_35 dupCCCT) which may be related to the disease was found by detecting the FECH gene in the pedigree of this case.     

Cancer risk in primary sclerosing cholangitis: Epidemiology,prevention, and surveillance strategies

Primary sclerosing cholangitis(PSC) is a rare cholestatic liver disease characterized by progressive fibroinflammatory destruction of the intra-and/or extrahepatic biliary ducts. While its features and disease course can be variable,most patients with PSC have concurrent inflammatory bowel disease and will eventually develop liver cirrhosis and end-stage liver disease, with liver transplantation representing the only potentially curative option. Importantly,PSC is associated with a significantly increased risk of malignancy compared to the general population, mainly cholangiocarcinoma, gallbladder carcinoma,hepatocellular carcinoma, and colorectal cancer, with nearly 50% of deaths in patients with PSC being due to cancer. Therefore, robust surveillance strategies are needed, though uncertainty remains regarding how to best do so. In this review, we discuss the epidemiology, prevention, and surveillance of cancers in patients with PSC. Where evidence is limited, we present pragmatic approaches based on currently available data and expert opinion.     

Bilhemia after trans-jugular intra-hepatic porto-systemic shunt and its management with biliary decompression

Bilhemia or bile mixing with blood is a rare clinical problem. The clinical presentation is usually transient self-resolving hyperbilirubinemia, progressive and rapidly rising conjugated hyperbilirubinemia, or recurrent cholangitis. Endoscopic retrograde cholangiopancreatography （ERCP） plays an important role in diagnosis and management. Biliary decompression with endoscopic sphincterotomy is useful in treating these patients. If not recognized and treated in time, the condition can be fatal in a significant proportion of patients. This usually occurs after blunt or penetrating hepatic trauma due to a fistulous connection between the biliary radicle and portal or hepatic venous radical. Cases have been described due to iatrogenic trauma such as liver biopsy and percutaneous biliary drainage. However, the occurrence after trans-jugular intra-hepatic porto-systemic shunt （TIPS） is very rare. We report a case of bilhemia presenting as rapidly rising bilirubin after TIPS. The patient was managed successfully with ERCP and removal of a blood clot from the common bile duct.     

Tuberculous lymphadenitis as a cause of obstructive jaundice： A case report and literature review

Obstructive jaundice secondary to tuberculosis （TB） is extremely rare. It can be caused by TB enlargement of the head of the pancreas, TB lymphadenitis, TB stricture of the biliary tree, or a TB mass of the retroperitoneum. A 29-year-old man with no previous history of TB presented with abdominal pain, obstructive jaundice, malaise and weight loss. Ultrasonography （US）, computer tomography （CT） scan and endoscopic retrograde cholangiopancreatography （ERCP） were suggestive of a stenosis of the distal common bile duct （CBD） caused by a mass in the posterior head of the pancreas. Tumor markers, CEA and CA19-9 were within normal limits. At operation, an enlarged, centrally caseous lymph node of the posterior head of the pancreas was found, causing inflammatory stenosis and a fistula with the distal CBD. The lymph node was removed and the bile duct resected and anastomosed with the Roux-en Y jejunal limb. Histology and PCR based-assay confirmed tuberculous lymphadenitis. After an uneventful postoperative recovery, the patient was treated with anti-tuberculous medication and remained well 2.5 years later. Though obstructive jaundice secondary to tuberculous lymphadenitis is rare, abdominal TB should be considered as a differential diagnosis in immunocompromised patients and in TB endemic areas. Any stenosis or fistulation into the CBD should also be taken into consideration, and biliary bypass surgery be performed to both relieve jaundice and prevent further stricture.     

A case of simple type Caroli's disease confined to right lobe of the liver]

Caroli's disease is a rare congenital hepatobiliary disease characterized by multifocal segmental dilatation of intrahepatic bile ducts affecting all or parts of the liver. Two forms of Caroli's disease are described, the pure form and that associated with periportal fibrosis. The disease may diffusely affect the liver or be localized to one lobe or segment. Less than 20% of all reported cases of Caroli's disease are monolobar type. We report a case of simple type Caroli's disease confined to right lobe of the liver in a 22 year old man. He was admitted due to right upper abdominal pain and diagnosed by magnetic resonance cholangiopancreatography. He was treated with right hepatic lobectomy and recovered completely.     

Caroli's Disease: A Magnetic Resonance Cholangiopancreatography Diagnosis

Magnetic resonance cholangiopancreatography (MRCP) has received much attention in the recent literature as a noninvasive alternative to endoscopic retrograde cholangiography, primarily for biliary calculus disease, but also for the less common indication of evaluation of biliary anomalies. We present a case of Caroli's disease in which the diagnosis can be clearly inferred by MRCP. The findings of MRCP and endoscopic retrograde cholangiopancreatography are similar. This new procedure could be a noninvasive alternative to direct cholangiography and perhaps will become the first-choice imaging technique for diagnosing Caroli's disease.     

Caroli''s Disease: Role of Endoscopic Retrograde Cholangiopancreatography

Several modalities have been used in the diagnosis of congenital dilatation of the intrahepatic bile ducts (Caroli's disease) with varying degrees of reliability and morbidity. We report two patients with Caroli's disease where endoscopic retrograde cholangiopancreatography was used to define the anatomy of the extra and intrahepatic biliary trees. In one of the patients (BT) esophageal varices were easily visualized on endoscopy which had been previously demonstrated by a more invasive procedure (splenoportography). There were no complications of retrograde cholangiopancreatography in these two patients. We believe that retrograde cholangiopancreatography is a safe and effective method of evaluating the biliary tree and status of portal hypertension in patients with Caroli's disease as well as providing a reliable means of following the progression of their disease.     

Caroli's disease: 6 case studies

Caroll's disease is characterized by congenital non-obstructive dilatation of the intrahepatic bile ducts of undefined etiology. It is a rare disease usually affecting the whole liver but it may affect a lobe or a segment (11). This study shows the evolution of 6 cases (2 boys and 4 giris) that were diagnosed with Caroli's disease at a referral service. Their ages ranged from 2 to 16 years--median age 10 years. One of the patients presented with cholangitis, while hepatomegaly was observed in 83% of the cases. Four of the patients presented biliary lithiasis and in one of these cholesterol crystals could be observed in the duodenal secretion. The diagnosis was confirmed in 4 cases by endoscopic retrograde cholangiopancreatography, in 1 by cholangioresonance and 1 by echography. Two of the patients also presented congenital hepatic fibrosis. The outpatient clinic follow-up indicated that all the patients evolved well with the exception of one patient who was selected as a candidate for liver transplantation.     

Caroli's disease. Report of 5 cases and review of literature

In 1958 Caroli was the first to define exactly in literature the congenital dilatations of the intrahepatic bile ducts, concerning a segment, a lobe, or both lobes of the Liver. Later Todani involved it in his classification of the bile duct cysts as type V. Caroli's disease (CD) is quite a rare entity (about 150 cases reported in literature). In CD, stenosis and dilatation cause initially biliary stasis, leading to intrahepatic biliary lithiasis and secondary infection. The spontaneous course of CD is dominated by biliary infection: cholangitis (cholangiohepatitis), septicemia and intrahepatic and subphrenic abscesses. That is why the disease must be recognized before serious complications develop. The authors report about 5 cases of Caroli's disease--2 women and 3 men. Diffuse spread in one patient (25-year-old man) and in four--left lobe involved predominantly. Most common signs and symptoms were: fever, cholangitis, upper quadrant abdominal pain, hepatosplenomegaly, obstructive jaundice, Charcot's triad (in two). Importance for the exact diagnosis involves the use of ultrasonography (US), computer tomography (CT) scan, endoscopic cholangiopancreatography (ERCP), intraoperative cholangiography and cholangioscopy, allowing early diagnosis and therefore a better therapeutic and surgical approach.     

Caroli's disease and adult polycystic kidney disease: a rarely recognized association

Caroli's disease is a rare form of fibropolycystic disease of the hepatobiliary system characterized by segmental cystic dilatation of intrahepatic ducts. It is associated with intrahepatic cholelithiasis, cholangitis and hepatic abscesses. Like other forms of fibropolycystic disease of the liver, Caroli's disease is often accompanied by cystic renal disease, specifically renal tubular ectasia or medullary sponge kidney. Adult-type polycystic kidney disease associated with Caroli's disease is rare, only one such case having appeared in the literature to our knowledge. We present a second instance of this association.     

Partial hepatectomy for Caroli's syndrome. Report of two patients with long-term follow-up

Caroli's syndrome comprises cystic dilatations of the intrahepatic bile ducts, which may be focal or diffuse. Partial hepatectomy, when possible, is the best current treatment. We report on two patients with Caroli's syndrome confined to one side of the liver, who were subjected to partial hepatectomy. Both patients had a previous history of biliary tract surgery. Transhepatic percutaneous cholangiography and abdominal CT scan were helpful in establishing the diagnosis and the extent of the disease. After hepatectomy, one patient developed an abdominal abscess that required surgical drainage, the other developed persistent fever, which resolved spontaneously. Both patients are asymptomatic three and five years post-hepatectomy, respectively, and there is no clinical evidence of recurrence of the disease. The diagnostic work-up and therapeutic choices for this rare entity are discussed.     

The role of liver transplantation in patients with Caroli's disease.

Caroli's disease, characterized by segmental or diffuse dilation of the intrahepatic biliary ducts, is a rare disease which is difficult to treat. The course of the disorder is characterized by recurrent episodes of cholangitis and hospital stays, with a consequent loss of quality-of-life and productive capacity, often ending in death due to uncontrolled infection. Endoscopic drainage of the bile duct, percutaneously or surgically, is palliative, and presents bad results in the follow-up of these patients. Orthotopic liver transplantation appears to be an effective curative option for the treatment of patients with Caroli's disease associated to complications. The authors present the course of two cases of this disease, associated with congenital fibrosis of the liver worsened by repeated episodes of cholangitis, submitted to orthotopic liver transplantation.     

Monolobar Caroli's disease in an adult. Case report

Caroli's disease is the dilatation of the segmental intrahepatic bile ducts which generally presents in a diffuse form, but may occasionally involve only a single lobe, commonly the left one. We report the case of a 64-year-old male who presented with a clinical picture of obstructive jaundice, with Caroli's disease in segments II and III of the liver. Preoperative diagnosis was made using abdominal ultrasound and computed tomography scan, confirmed by endoscopic retrograde cholangiopancreatography. The treatment used was segmentectomy II and III (left lobectomy--Couinaud's classification) of the liver. Macroscopic examination of the resected specimen revealed cystic dilatation of the intrahepatic bile ducts and intrahepatic lithiasis. Histologically there was no evidence of malignancy. Liver resection is the treatment of choice for Caroli's disease confined to a single lobe or segment, eliminating the potential for cholangitis, lithiasis and carcinoma.     

Difficulty in diagnosing complications of Caroli's disease

Congenital cystic dilatation of the biliary tree (Caroli's disease) is a rare condition that usually presents with ascending cholangitis. This report demonstrates the difficulty of recognizing other complications of Caroli's disease antemortem. A 35-year-old man developed a subphrenic abscess and malignant transformation of the biliary tree; both were clinically undetected. Episodes of pain, pyrexia, or weight loss should be assessed carefully and the complications of Caroli's disease considered before attributing such symptoms to recurrent cholangitis.