[PAPA syndrome with Crohn's disease and primary sclerosing cholangitis/autoimmune hepatitis overlap syndrome]. / PAPA-Syndrom mit Morbus Crohn und primär sklerosierender Cholangitis/Autoimmunhepatitis-Overlap-Syndrom.

BACKGROUND: The PAPA syndrome, an acronym for pyogenic sterile arthritis, pyoderma gangraenosum and acne, is an autosomal dominant hereditary disease which is caused by a mutation in the PSTPIP1 ("proline-serine-threonine phosphatase interacting protein 1") gene located on chromosome 15 and encodes the proline-serine-threonine phosphatase-interacting protein 1. An association with Crohn's disease (CD), autoimmune diseases of the liver and PAPA syndrome has not yet been reported in the literature. OBJECTIVE: To thoroughly investigate a family with three affected members (mother and 2 children) with newly diagnosed PAPA syndrome and intestinal and hepatobiliary symptoms. MATERIAL AND METHODS: We performed an in-depth phenotyping, dermatologic, radiologic, rheumatologic, gastroenterologic, histologic and genetic analysis in this family. RESULTS: All three family members could be newly diagnosed as suffering from PAPA syndrome and carried the known disease-causing mutation c.688G > A (p.Ala230Thr) in the PSTPIP1 gene. The younger son suffered from CD in addition to PAPA syndrome. The mother additionally suffered from ulcerative colitis (UC) and an overlap syndrome between autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC). A mutation in in the NOD2 ("nucleotide binding oligomerization domain containing protein 2") gene could not be detected in any of the three persons affected. CONCLUSION: We extended the symptoms of PAPA syndrome to CD and autoimmune liver disease. These different disease entities might share a similar pathogenetic mechanism or even represent a new syndrome. This can be clarified in the future by screening patients with PAPA syndrome for intestinal and also hepatobiliary diseases.

Transjugular intrahepatic portosystemic shunt vs conservative treatment for recurrent ascites: A propensity score matched comparison.

BACKGROUND: Transjugular intrahepatic portosystemic shunt (TIPS) placement is an effective intervention for recurrent tense ascites. Some studies show an increased risk of acute on chronic liver failure (ACLF) associated with TIPS placement. It is not clear whether ACLF in this context is a consequence of TIPS or of the pre-existing liver disease. AIM: To better understand the risks of TIPS in this challenging setting and to compare them with those of conservative therapy. METHODS: Two hundred and fourteen patients undergoing their first TIPS placement for recurrent tense ascites at our tertiary-care center between 2007 and 2017 were identified (TIPS group). Three hundred and ninety-eight patients of the same time interval with liver cirrhosis and recurrent tense ascites not undergoing TIPS placement (No TIPS group) were analyzed as a control group. TIPS indication, diagnosis of recurrent ascites, further diagnoses and clinical findings were obtained from a database search and patient records. The in-hospital mortality and ACLF incidence of both groups were compared using 1:1 propensity score matching and multivariate logistic regressions. RESULTS: After propensity score matching, the TIPS and No TIPS groups were comparable in terms of laboratory values and ACLF incidence at hospital admission. There was no detectable difference in mortality (TIPS: 11/214, No TIPS 13/214). During the hospital stay, ACLF occurred more frequently in the TIPS group than in the No TIPS group (TIPS: 70/214, No TIPS: 57/214, P = 0.04). This effect was confined to patients with severely impaired liver function at hospital admission as indicated by a significant interaction term of Child score and TIPS placement in multivariate logistic regression. The TIPS group had a lower ACLF incidence at Child scores < 8 points and a higher ACLF incidence at ≥ 11 points. No significant difference was found between groups in patients with Child scores of 8 to 10 points. CONCLUSION: TIPS placement for recurrent tense ascites is associated with an increased rate of ACLF in patients with severely impaired liver function but does not result in higher in-hospital mortality.