Recent advances in clinical practice: epidemiology of autoimmune liver diseases

Disease Epidemiology ◽

Patient Morbidity ◽

Patients Experience

Autoimmune liver diseases are chronic inflammatory hepatobiliary disorders that when classically defined encompass three distinctive clinical presentations; primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC) and autoimmune hepatitis (AIH). Meaningful changes in disease epidemiology are reported, with increasing incidence and prevalence of AIH and PSC in Europe, and rising prevalence of PBC across Europe, North America and the Asia-Pacific region. However, there appears to be very significant global variation with contemporary incidence rates of disease per 100 000 ranging from 0.84 to 2.75 for PBC, 0.1 to 4.39 for PSC and 0.4 to 2.39 for AIH. Prevalence corresponds, and per 100 000 estimates for PBC range from 1.91 to 40.2, for PSC between 0.78 and 31.7 and for AIH from 4.8 to 42.9. Population-based studies and multicentre observational cohort series provide improved understanding of the clinical course that patients experience, highlighting variations in presenting phenotypes geographically and temporally. Collectively, while autoimmune liver diseases are rare, the clinical burden is disproportionately high relative to population incidence and prevalence. Age, sex and race also impact clinical outcomes, and patient morbidity and mortality are reflected by high need for gastroenterology, hepatology and organ transplant services.

Population-based study of autoimmune hepatitis and primary biliary cholangitis in Germany: rising prevalences based on ICD codes, yet deficits in medical treatment

Zeitschrift für Gastroenterologie ◽

10.1055/a-1135-9306 ◽

2020 ◽

Vol 58 (05) ◽

pp. 431-438 ◽

Cited By ~ 1

Author(s):

Marcial Sebode ◽

Angela Kloppenburg ◽

Annette Aigner ◽

Ansgar W. Lohse ◽

Christoph Schramm ◽

...

Keyword(s):

Autoimmune Hepatitis ◽

Liver Diseases ◽

Unmet Need ◽

Real Life ◽

Population Based ◽

Medical Community ◽

Background Population ◽

Icd Codes

Abstract Background Population-based data on the prevalence of and real-life treatment for the autoimmune liver diseases (AILD), primary biliary cholangitis (PBC) and autoimmune hepatitis (AIH), are scarce, and such knowledge may help to improve patient care. Methods Data of 8.1 million individuals having health insurance with the “Techniker Krankenkasse,” the largest German health insurer, were analyzed with regard to the prevalence of and prescribed medication for AILD in Germany from 2011 until 2014. Patients with viral hepatitis B infection (HBV) and alcoholic liver cirrhosis (ALC) served as control groups. Case definition was based on ICD codes. Results The prevalences of PBC and AIH were 36.9/100 000 inhabitants (95 % CI: 35.6–38.2) and 23.0/100 000 inhabitants (95 % CI: 22.0–24.0) in 2014, respectively. The prevalences of AILD increased from 2011 to 2014 (for PBC by 31 % and for AIH by 29 %), with the largest increase for male patients with PBC. In contrast, the prevalence of HBV declined while that of ALC remained stable. The analysis of prescribed real-life treatment revealed considerable deviations from standard treatment recommendations. Specifically, in older patients with PBC or AIH, undertreatment was common. Conclusion The prevalence of PBC and AIH based on ICD codes is increasing in Germany. The analysis of real-life treatment in this large and population-based cohort points to the unmet need to improve the implementation of treatment guidelines for autoimmune liver diseases in the broader medical community.

Current Trends and Characteristics of Hepatocellular Carcinoma in Patients with Autoimmune Liver Diseases

Cancers ◽

10.3390/cancers13051023 ◽

2021 ◽

Vol 13 (5) ◽

pp. 1023

Author(s):

Eirini I. Rigopoulou ◽

George N. Dalekos

Keyword(s):

Risk Factors ◽

Hepatocellular Carcinoma ◽

Liver Diseases ◽

Treatment Modalities ◽

Increased Risk ◽

Liver Cancers ◽

Medium Risk ◽

Causes Of Mortality

Hepatocellular carcinoma (HCC), the commonest among liver cancers, is one of the leading causes of mortality among malignancies worldwide. Several reports demonstrate autoimmune liver diseases (AILDs), including autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) to confer increased risk of hepatobiliary malignancies, albeit at lower frequencies compared to other liver diseases. Several parameters have been recognized as risk factors for HCC development in AIH and PBC, including demographics such as older age and male sex, clinical features, the most decisive being cirrhosis and other co-existing factors, such as alcohol consumption. Moreover, biochemical activity and treatment response have been increasingly recognized as prognostic factors for HCC development in AIH and PBC. As available treatment modalities are effective only when HCC diagnosis is established early, surveillance has been proven essential for HCC prognosis. Considering that the risk for HCC is not uniform between and within disease groups, refinement of screening strategies according to prevailing demographic, clinical, and molecular risk factors is mandated in AILDs patients, as personalized HCC risk prediction will offer significant advantage in patients at high and/or medium risk. Furthermore, future investigations should draw attention to whether modification of immunosuppression could benefit AIH patients after HCC diagnosis.

The Association of Two Rare Diseases is Not Rare: Primary Immunodeficiencies and Autoimmune Liver Diseases

10.21203/rs.3.rs-748416/v1 ◽

2021 ◽

Author(s):

Şefika Nur Ayar ◽

Elif Soyak ◽

Cem Şimşek ◽

Deniz Çağdaş ◽

Yasemin Balaban

Keyword(s):

Rare Diseases ◽

Liver Diseases ◽

Strong Association ◽

Laboratory Data ◽

Tertiary Hospital ◽

Iga Deficiency ◽

Cross Sectional ◽

Igm Deficiency

Abstract Purpose: PIDs associates with autoimmune diseases include autoimmune liver diseases (AILD); however, the frequency of PIDs among patients with AILD is unknown. This study aimed to evaluate the strength of the association between AILD and PIDs. Methods: We conducted this single-center, cross-sectional, and descriptive study in a tertiary hospital. We evaluated eighty-two patients with AILD (39 autoimmune hepatitis (AIH), 32 with primary biliary cholangitis (PBC), seven with variant syndromes (VS), and four with primary sclerosing cholangitis (PSC) for the presence of PIDs. We obtained a detailed history of infections, comorbidities, family history, and laboratory data from the files. All patients were evaluated in the immunology department for further examination, and PID diagnoses were made according to ESID (The European Society for Immunodeficiencies) criteria. Results: Out of 82 patients with AILD, PIDs were diagnosed in 18% (15 patients); there were four patients with common variable immunodeficiency (CVID), four with partial IgA deficiency (PIgAD), four with selective IgM deficiency (SIgMD), and three with combined immunodeficiency (CID). PIDs were present in 29% of patients with VS, 25 % of patients with PSC, 23% of patients with AIH, and 9% of patients with PBC. Conclusion: Although PIDs are rare diseases in the general population, they have a strong association with AILD and were detected in one-fifth of the patients. Further research with larger patient groups is needed to evaluate the diagnostic and prognostic impacts of PIDs on AILD.

Worldwide Incidence of Autoimmune Liver Disease

Digestive Diseases ◽

10.1159/000440705 ◽

2015 ◽

Vol 33 (Suppl. 2) ◽

pp. 2-12 ◽

Cited By ~ 43

Author(s):

Peter Jepsen ◽

Lisbet Grønbæk ◽

Hendrik Vilstrup

Keyword(s):

Risk Factors ◽

Liver Diseases ◽

Incidence Rates ◽

Case Finding ◽

Biliary Cirrhosis ◽

Immunoglobulin G4 ◽

North East ◽

Standard Population ◽

Incident Cases

Background: The variation that occurs in the incidence patterns of autoimmune liver diseases may provide insight into the risk factors causing the diseases. We systematically reviewed studies on the incidence of autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), primary sclerosing cholangitis (PSC), and immunoglobulin G4-associated cholangitis (IAC) in general populations. Key Messages: We found relevant studies through Medline and Scopus, and we examined whether they were population-based; the way they found cases for inclusion and which diagnostic criteria they used; and whether they used standardization to facilitate comparison with other studies. The 55 identified studies varied greatly in their case-finding methods, and only 14 (25%) of them used a standard population. Reported incidence rates of AIH were around 1 per 100,000 population per year, possibly higher in Scandinavia than in other countries, and a Danish study of the 1994-2012 period found an increasing incidence. A majority of PBC studies found incidence rates of 1-2 per 100,000 population per year and an increasing time trend, but incidence was lower in the Netherlands and New Zealand and higher in North East England. Most studies of PSC found incidence rates around 1 per 100,000 population per year, but there were no incident cases among 100,000 Alaska natives during the period 1984-2000. The incidence of IAC remains unknown. Conclusions: The incidence of the autoimmune liver diseases is around 1-2 per 100,000 population per year for each disease. The variation in incidence over time and place suggests that there are differences in the prevalence of risk factors for the diseases, but the studies used different methods and so it is difficult to draw firm conclusions. We recommend that groups of investigators conduct multisite studies with identical case-finding methods, and that they use a standard population to account for differences in demographics.

Variety of lung involvement in autoimmune liver diseases

Terapevticheskii arkhiv ◽

10.26442/terarkh2018908107-112 ◽

2018 ◽

Vol 90 (8) ◽

pp. 107-112

Author(s):

L A Akulkina ◽

M Yu Brovko ◽

V I Sholomova ◽

T P Rozina ◽

A S Yanakayeva ◽

...

Keyword(s):

Liver Diseases ◽

Extrahepatic Manifestations ◽

Specific Procedure ◽

High Resolution Computed Tomography ◽

Lung Lesions ◽

Pulmonary Parenchyma ◽

Lung Vessels

The primary autoimmune liver diseases conventionally include primary biliary cholangitis, primary sclerosing cholangitis and autoimmune hepatitis. Despite of primary autoimmune affection of different parts of the hepatobiliary system, in the recent decades, a lot of data has emerged indicating the presence of extrahepatic manifestations of these diseases, in particular, lung lesions, such as nodular and interstitial changes with possible progression and development of fibrosis and respiratory failure. In case of lungs disease, both pulmonary parenchyma and lung vessels, pleura, and intrathoracic lymph nodes can be involved. The most sensitive and specific procedure to assess the extent of the lung lesions and their evolution is high-resolution computed tomography. Due to the possibility of long-term asymptomatic course of the pulmonary disease with development of irreversible changes in patients with autoimmune liver diseases, it seems reasonable to conduct screening studies aimed at early detection and treatment of lung lesions in this population.

The risk of liver cancer in autoimmune liver diseases

Therapeutic Advances in Medical Oncology ◽

10.1177/1758835919861914 ◽

2019 ◽

Vol 11 ◽

pp. 175883591986191 ◽

Cited By ~ 5

Author(s):

Ana Lleo ◽

Ynto S. de Boer ◽

Rodrigo Liberal ◽

Massimo Colombo

Keyword(s):

Early Diagnosis ◽

Liver Diseases ◽

Close Association ◽

Fatal Outcome ◽

Primary Malignancy ◽

Abdominal Ultrasonography ◽

Systematic Analysis ◽

Acid Therapy ◽

Autoimmune Liver Diseases

Hepatocellular carcinoma (HCC), the dominant primary malignancy of the liver, has almost invariably a fatal outcome that can be averted only by early diagnosis and treatment. While the close association of HCC with chronic viral hepatitis and alcohol abuse has impacted favourably on screening and treatment of this deadly tumour, at the same time it has long obscured the etiologic role of autoimmune liver diseases. Recently, a systematic analysis of 25 published cohorts disclosed a 3.1 × 1000 patients/year incidence of HCC in autoimmune hepatitis patients that tripled in those with cirrhosis. HCC is also a sequela of primary biliary cholangitis, where the incidence is more relevant in males, those with advanced liver disease and nonresponders to ursodeoxycholic acid therapy. Cholangiocarcinoma (CCA), the second ranking primary cancer of the liver, is also on the rise with its intrahepatic pattern, in part reflecting an association with chronic liver diseases of diverse aetiology. In the USA and northern Europe, perihilar CCA is a frequent complication of primary sclerosing cholangitis, a cholestatic disorder thought to be immune mediated. International Guidelines clearly recommend HCC screening with abdominal ultrasonography every 6 months in autoimmune cirrhotic patients. While surveillance of patients with autoimmune liver disorders who are at risk of HCC affects both early diagnosis and radical therapy of this tumour, this is not the case for CCA, where early diagnosis is challenged by the lack of sensitive and accurate tests for screening.

Mortality and the risk of malignancy in autoimmune liver diseases: A population-based study in Canterbury, New Zealand

Hepatology ◽

10.1002/hep.24743 ◽

2012 ◽

Vol 55 (2) ◽

pp. 522-529 ◽

Cited By ~ 51

Author(s):

Jing Hieng Ngu ◽

Richard Blair Gearry ◽

Chris Miles Frampton ◽

Catherine Ann Malcolm Stedman

Keyword(s):

New Zealand ◽

Liver Diseases ◽

Population Based ◽

Population Based Study ◽

Risk Of Malignancy

The Microbiome in Autoimmune Liver Diseases: Metagenomic and Metabolomic Changes

Frontiers in Physiology ◽

10.3389/fphys.2021.715852 ◽

2021 ◽

Vol 12 ◽

Author(s):

Yanping Zheng ◽

Ying Ran ◽

Hongxia Zhang ◽

Bangmao Wang ◽

Lu Zhou

Keyword(s):

Gut Microbiome ◽

Metabolic Pathways ◽

Liver Diseases ◽

Critical Role ◽

Short Chain Fatty Acids ◽

Mechanistic Studies ◽

Acid Metabolites

Recent studies have identified the critical role of microbiota in the pathophysiology of autoimmune liver diseases (AILDs), including autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC). Metagenomic studies reveal significant decrease of gut bacterial diversity in AILDs. Although profiles of metagenomic vary widely, Veillonella is commonly enriched in AIH, PBC, and PSC. Apart from gut microbiome, the oral and bile microbiome seem to be associated with these diseases as well. The functional analysis of metagenomics suggests that metabolic pathways changed in the gut microbiome of the patients. Microbial metabolites, including short-chain fatty acids (SCFAs) and microbial bile acid metabolites, have been shown to modulate innate immunity, adaptive immunity, and inflammation. Taken together, the evidence of host–microbiome interactions and in-depth mechanistic studies needs further accumulation, which will offer more possibilities to clarify the mechanisms of AILDs and provide potential molecular targets for the prevention and treatment in the future.