Chronic Cholangiopathy Associated with Primary Immune Deficiencies Can Be Resolved by Effective Hematopoietic Stem Cell Transplantation.

OBJECTIVES: To investigate effects and outcome of hematopoietic stem cell transplantation (HSCT) on sclerosing cholangitis, in pediatric patients with different primary immunodeficiencies (PIDs). STUDY DESIGN: From databases in 2 tertiary centers for immunodeficiencies and liver disease, we have identified children with PIDs and sclerosing cholangitis, who have paired clinical, radiologic, and histologic information before and after HSCT and studied their clinical progress and outcome. RESULTS: Seven of 13 children (53.8%) died at a median interval of 4 months (range, 3 months-5 years) after HSCT. However, 6 surviving children (46.2%) with different PIDs and less severe cholangiopathies showed an improvement in markers of liver injury within months of successful unrelated reduced intensity conditioning HSCT. The repeated native liver biopsy, performed in 4 patients at a median of 96 (range, 4-144) months post-HSCT, showed a considerable improvement. Biochemical markers of liver function in the survivors completely normalized after a median of 13 months (range, 2-48). All patients continue to have a mildly dilated extrahepatic biliary system on ultrasonography with no intrahepatic ductal changes on magnetic resonance cholangiography after a follow-up of median 18 years (range, 2-20). CONCLUSIONS: Effective HSCT has the potential to improve biochemical and histologic features of cholangiopathy in children with PIDs, presumably by clearance of chronic infection following establishment of immune competence. However, careful patient selection is critical as advanced liver injury is often associated with serious complications and mortality.

Colangite esclerosante primária (CEP) / Primary sclerosing cholangitis (PSC)

A CEP é uma doença hepática colestática crônica caracterizada por estenoses da árvore biliar intra e extra-hepática, que pode causar cirrose e colangiocarcinoma em 10% a 30% dos pacientes. Comumente associa-se com a doença inflamatória intestinal e pode causar morte por insuficiência hepática. A CEP é considerada doença hepática imunomediada, multifatorial, multigenética de causa desconhecida. CPRE e colangiopancreatografia ressonância são recomendadas para o diagnóstico de CEP. O clássico achado em -contas de rosário- é resultado de áreas multifocais de estenoses de ductos biliares intra ou extra-hepáticas, intercalados com segmentos normais ou dilatados. A citologia de ductos biliares com estenoses e os dados histológicos de material obtidos por punção possibilitam o diagnóstico de colangiocarcinoma. Não há tratamento eficaz para a CEP. O AuDC pode reduzir as elevações de enzimas hepáticas, seu efeito sobre a histologia hepática e o prognóstico são inconclusivos. O transplante hepático continua sendo o único tratamento comprovado a longo prazo para a CEP, porém com recorrência em 20% a 40% dos pacientes.

Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease characterized by strictures of the biliary tree intrahepatic and extrahepatic that may cause cirrhosis and cholangiocarcinoma in 10%-30% of patients. It is commonly associated with intestinal inflammatory disease and ultimately leading to death by liver failure. PSC is considered to be an immune-mediated liver disease of multifactorial and multigenectic origin of unknown etiology. ERCP and magnetic resonance cholangiopancreatography are recommend for diagnosing PSC. The classical -beaded- cholangiographic findings in PSC result from multifocal areas of stricturing of intra or extrahepatic bile ducts with the intervening segments of normal or dilated ducts. Cytology from bile ducts strictures and histopathological findings in bile ducts are indicated to diagnosis of cholangiocarcinoma. There is no efficiency therapy for PSC. ursodeoxycholic acid may improve liver enzymes, its effects on liver histology and prognosis are inconclusive. Repeat endoscopic dilatations and prosthesis may be benefic in some cases. Liver transplantation remains the only proven long-term treatment for PSC but recurrence of PSC in the liver graft affets as many as 20% - 40% of patients.

Sarcoidosis mimicking primary sclerosing cholangitis requiring liver transplantation.

Sarcoidosis is a systemic granulomatous disease of unknown etiology. The association of the cholestatic pattern usually seen in sarcoidosis, with biliary duct changes resembling primary sclerosing cholangitis (PSC) is rare. Liver transplantation permits the histological evaluation of the complete explanted liver, making the diagnosis more reliable. In conclusion we present our experience with two patients with sarcoidosis requiring liver transplantation, who presented with clinical and radiological findings characteristics of primary sclerosing cholangitis.

[Primary sclerosing cholangitis of small ducts, associated with eosinophilic gastroenteritis. Case report and literature review.]. / Colangitis esclerosante primaria de pequeñosconductos, asociada a gastroenteritis eosinofílica.Reporte de caso y revisión de la literatura.

Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown etiology, probably immune-mediated. PSC is frequently associated with Inflammatory Bowel Disease, usually Ulcerative Colitis and less commonly with Crohn's disease. The small-duct PSC variant occurs in 5%of patients. Eosinophilic gastroenteritis (EG) is another chronic inflammatory disease, characterized by eosinophilic infiltration limited to the digestive tract, and probably of immunoallergic origin. EG is frequently observed in children but it's less commonly seen in adults. EG can affect any segment of the gastrointestinal tract, and recently it has been described an increase in the incidence of the esophagic variant, termed eosinophilic esophagitis.Ileocolonic involvement in EG is rare and clinical manifestations depend of the intestinal layer affected. Patients with mucosal infiltration complain of abdominal pain, fecal occult blood loss and/or protein-losing enteropaty, while signs and symptoms of obstruction are common in those with muscular EG, finally involvement of the serosal layer occurs in 10% and typically presents as eosinophil-rich ascitis. Response to steroids usually is excellent. There is a previous publication in the literature documenting the association of PSC and EG. Here we describe the first case of small-duct PSC associated to EG with ileocolonic involvement.