Dataset Information

Primary Sclerosing Cholangitis and Autoimmune Hepatitis Overlapping Syndrome Complicated by Ulcerative Colitis.

ABSTRACT: The case of a 28-year-old man who had primary sclerosing cholangitis and autoimmune hepatitis overlapping syndrome (PSC-AIH OS) complicated by ulcerative colitis (UC) is reported. First, he was diagnosed with PSC complicated by UC and initially treated with ursodeoxycholic acid and mesalazine. Twenty-four months later, liver damage reappeared, and we performed a liver biopsy, which showed the features of AIH. We eventually diagnosed him with PSC-AIH OS complicated by UC. If liver damage worsens in PSC patients, PSC-AIH OS should be considered. The optimum management approach for PSC-AIH OS should be established.

SUBMITTER: Suzuki T

PROVIDER: S-EPMC9449607 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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Primary Sclerosing Cholangitis and Autoimmune Hepatitis Overlapping Syndrome Complicated by Ulcerative Colitis.

Suzuki Takanori T Naitoh Itaru I Katano Takahito T Matsuura Kentaro K Nagura Yoshihito Y Fujiwara Kei K Nojiri Shunsuke S Kataoka Hiromi H

Internal medicine (Tokyo, Japan) 20220201 16

The case of a 28-year-old man who had primary sclerosing cholangitis and autoimmune hepatitis overlapping syndrome (PSC-AIH OS) complicated by ulcerative colitis (UC) is reported. First, he was diagnosed with PSC complicated by UC and initially treated with ursodeoxycholic acid and mesalazine. Twenty-four months later, liver damage reappeared, and we performed a liver biopsy, which showed the features of AIH. We eventually diagnosed him with PSC-AIH OS complicated by UC. If liver damage worsens ...[more]

PMID: 35110488

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Project description:ObjectivesThe clinical/colonoscopic features of ulcerative colitis (UC) associated with primary sclerosing cholangitis (PSC), the prognostic impact of UC, and the utility of UC screening in PSC patients are unknown. We characterized UC associated with PSC and assessed UC's impact on the prognosis of PSC and the importance of colonoscopic UC screening in PSC patients.MethodsWe retrospectively analyzed the cases of 77 patients treated for PSC at a single center (April 2000-July 2019). We reviewed the clinical/colonoscopic profiles of the concurrent UC patients and compared the clinical profiles, survival, and primary causes of death between the patients with/without UC (n = 35/n = 42). The details of all patients' colonoscopies were reviewed.ResultsThe concurrent UC group: 17 men, 18 women, diagnosed with PSC at the mean (SD) age of 36 (17) years; 21 patients (60%) had no UC symptoms. Colonoscopy revealed pancolitis in all patients, predominantly affecting the right-sided colon in 30 patients (86%). Lesions were scattered. Backwash ileitis (n = 13, 37%) and rectal sparing (n = 18, 51%) were observed. Most patients had mild UC; some had moderate or more severe UC (median Ulcerative Colitis Endoscopic Index of Severity (UCEIS) score 2; range, 1-5). Ludwig's stage determined by liver biopsy did not correlate with the Mayo endoscopic score for UC. The patients with UC were diagnosed with PSC at a significantly younger age than those without UC (mean (SD), 36 [17] years vs. 55 [19] years, p < 0.0001) and had a significantly higher 5-year survival rate (97.1% vs. 70.5%, p = 0.0028). UC was detected in 19 of 34 asymptomatic patients (56%) who underwent colonoscopy screening.ConclusionsOur cohort's clinical/colonoscopic features of UC associated with PSC are more moderate or severe UC than previous cases. The coexistence of UC might affect the prognosis of PSC. In this regard, colonoscopy in PSC patients is an important examination for determining prognosis. There is also asymptomatic UC in patients with PSC. In this regard, screening for colonoscopy in PSC patients is essential. When a diagnosis of PSC is made, immediate colonoscopy is a priority with UC complications in mind.

Project description:Background & aimsGenetic and microbiome studies across patients with primary sclerosing cholangitis (PSC) and ulcerative colitis (UC) have indicated that UC in PSC is a separate disease entity to primary UC, but expression studies for PSC are lacking.MethodsWe conducted whole blood RNA sequencing experiments for 495 patients with UC, 220 patients with PSC (including 177 with UC), and 320 healthy controls from Germany and Norway. Differential expression analyses, gene ontology and coexpression analyses and random forest machine learning were performed to identify genes, ontologies and transcriptional features that discriminate diagnoses.ResultsThe blood transcriptome in UC and PSC is dominated by neutrophil activation genes (e.g. S100A12). In UC, but not in PSC (neither PSC alone nor patients with an additional diagnosis of UC [PSC/UC]), ribosomal, mitochondrial, and energy metabolism genes are upregulated in conjunction with antibody transcript expression (MZB1, IGJ). In PSC, there is an increase in modules related to apoptosis and expression of genes of interferon-I-related ontologies. Random forest analysis could poorly discriminate PSC alone from PSC/UC (AUROC 0.56), but could discriminate PSC, UC, and controls with high accuracy (AUROC UC vs. controls 0.95, PSC vs. controls 0.88, UC vs. PSC 0.986). The main coexpression modules relevant for distinguishing PSC, UC, and controls are enriched in neutrophil degranulation and antibody production genes.ConclusionsSupported by machine learning results, PSC and UC appear to be separate entities on a molecular level, while PSC/UC and PSC are indistinguishable.Impact and implicationsClinical and genetic studies suggest that the colitis-like symptoms in primary sclerosing cholangitis (PSC) represent a different disease entity from primary ulcerative colitis (UC). The present study supports this assumption with transcriptomic data from whole blood and describes notable differences in gene expression between primary UC and PSC, providing insights into the still unclear pathophysiology of both diseases. These findings are of interest to scientists seeking to decipher the molecular pathophysiology of both diseases and provide evidence that a redefinition of the PSC-UC phenotype should be considered. The study practically supports future molecular research by providing a large transcriptomic whole blood reference cohort.

Dataset Information

Primary Sclerosing Cholangitis and Autoimmune Hepatitis Overlapping Syndrome Complicated by Ulcerative Colitis.

Publications

Primary Sclerosing Cholangitis and Autoimmune Hepatitis Overlapping Syndrome Complicated by Ulcerative Colitis.

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