The Primary Sclerosing Cholangitis (PSC) Wellbeing Study: Understanding psychological distress in those living with PSC and those who support them

Ranieri, Veronica; Kennedy, Eilis; Walmsley, Martine; Thorburn, Douglas; McKay, Kathy

doi:10.1371/journal.pone.0234624

Cited by 15 publications

(14 citation statements)

References 24 publications

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“…Emotional distress can be exacerbated by anxiety about the idiopathic nature of the disease, lack of effective therapy, and elevated cancer risk. [104,105] Assessment of PSC symptoms is complex in patients with IBD, which itself causes symptoms such as abdominal pain and fatigue. [106] There is a growing interest in measuring PSC symptoms through patient-reported outcome measures (PROM).…”

Section: Symptomsmentioning

confidence: 99%

AASLD practice guidance on primary sclerosing cholangitis and cholangiocarcinoma

et al. 2022

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Inclusion of guidance for the diagnosis and management of cholangiocarcinoma (CCA) in patients with and without primary sclerosing cholangitis (PSC) (Figures 5, 8, and 9). Introduction of the term relevant stricture, defined as any biliary stricture of the common hepatic duct or hepatic ducts associated with signs or symptoms of obstructive cholestasis and/or bacterial cholangitis (Table 1). In patients with equivocal MRI with cholangiopancreatography (MRI/MRCP) findings, a repeated high-quality MRI/ MRCP should be performed for diagnostic purposes. Endoscopic retrograde cholangiopancreatography (ERCP) should be avoided for the diagnosis of PSC (Figure 2).

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Section: Symptomsmentioning

confidence: 99%

AASLD practice guidance on primary sclerosing cholangitis and cholangiocarcinoma

et al. 2022

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“…People with PSC have a decreased quality of life and dealing with uncertainties about course of disease and risk of cancer can generate anxiety, depression and social isolation. 456,464 In this regard, patient support groups should play a key role. Patients with IBD should also be encouraged to contact the related support groups.…”

Section: How Can Wellbeing Of People With Psc Be Optimised?mentioning

confidence: 99%

EASL Clinical Practice Guidelines on sclerosing cholangitis

Chazouillères¹,

Beuers²,

Bergquist³

et al. 2022

Journal of Hepatology

168

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“…We also observed that risk for SLE and PSC was associated with better mental health outcomes. Epidemiological studies have reported higher psychological distress in patients with SLE and PSC (61,(64)(65)(66)(67). However, in a study exploring the genetic correlation between immune and psychiatric related phenotypes using GWAS summary statistics, SLE was found to be significantly positively correlated only with Schizophrenia and no other psychiatric phenotypes (68).…”

Section: Discussionmentioning

confidence: 98%

PheWAS and cross-disorder analyses reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders

Topaloudi

Jain

Martinez

et al. 2022

Preprint

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Autoimmune diseases (ADs) are a group of more than 80 heterogeneous disorders that occur when there is a failure in the self-tolerance mechanisms triggering self-attacking autoantibodies. Most autoimmune disorders are polygenic and associated with genes in the human leukocyte antigen (HLA) region. However, additional non-HLA genes are also found to be associated with different ADs, and often these are also implicated in more than one disorder. Previous studies have observed associations between various health-related and lifestyle phenotypes and ADs. Polygenic risk scores (PRS) allow the calculation of an individual's genetic liability to a phenotype and are estimated as the sum of the risk alleles weighted by their effect sizes in a genome-wide association study (GWAS). Here, for the first time, we conducted a comparative PRS-PheWAS analysis for 11 different ADs (Celiac Disease, Juvenile Idiopathic Arthritis, Multiple Sclerosis, Myasthenia Gravis, Primary Sclerosing Cholangitis, Psoriasis, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Type 1 Diabetes, Vitiligo Early Onset, Vitiligo Late Onset) and 3,281 outcomes available in the UK Biobank that cover a wide range of lifestyle, socio-demographic and health-related phenotypes. We also explored the genetic relationships of the studied ADs, estimating their genetic correlation and performing cross-disorder GWAS meta-analyses for the identified AD clusters. In total, we observed 554 outcomes significantly associated with at least one disorder PRS, and 300 outcomes were significant after variants in the HLA region were excluded from the PRS calculations. Based on the genetic correlation and genetic factor analysis, we observed five genetic factors among studied ADs. Cross-disorder meta-analyses in each factor revealed genome-wide significant loci that are pleiotropic across multiple ADs. Overall, our analyses confirm the association of different factors with genetic risk for ADs and reveal novel observations that warrant further exploration.

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The Primary Sclerosing Cholangitis (PSC) Wellbeing Study: Understanding psychological distress in those living with PSC and those who support them

Abstract: Peer Review History: PLOS recognizes the benefits of transparency in the peer review process; therefore, we enable the publication of all of the content of peer review and author responses alongside final, published articles. The editorial history of this article is available here:

Cited by 15 publications

References 24 publications

AASLD practice guidance on primary sclerosing cholangitis and cholangiocarcinoma

AASLD practice guidance on primary sclerosing cholangitis and cholangiocarcinoma

EASL Clinical Practice Guidelines on sclerosing cholangitis

PheWAS and cross-disorder analyses reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders

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