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Wang CR, Tsai HW. Autoimmune liver diseases in systemic rheumatic diseases. World J Gastroenterol 2022; 28:2527-2545. [PMID: 35949355 PMCID: PMC9254143 DOI: 10.3748/wjg.v28.i23.2527] [Citation(s) in RCA: 30] [Impact Index Per Article: 10.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/10/2021] [Revised: 03/11/2022] [Accepted: 05/14/2022] [Indexed: 02/06/2023] Open
Abstract
Systemic rheumatic diseases (SRDs) are chronic, inflammatory, autoimmune disorders with the presence of autoantibodies that may affect any organ or system. Liver dysfunction in SRDs can be associated with prescribed drugs, viral hepatitis, alternative hepatic comorbidities and coexisting autoimmune liver diseases (AILDs), requiring an exclusion of secondary conditions before considering liver involvement. The patterns of overlap diseases depend predominantly on genetic determinants with common susceptible loci widely distributing in both disorders. In AILDs, it is important to identify the overlapping SRDs at an early stage since such a coexistence may influence the disease course and prognosis. Commonly co-occurring SRDs in AILDs are Sjögren syndrome (SS), rheumatoid arthritis (RA) or systemic lupus erythematosus (SLE) in autoimmune hepatitis (AIH), and SS, RA or systemic sclerosis in primary biliary cholangitis. Owing to different disease complications and therapies, it is imperative to differentiate between SLE liver involvement and SLE-AIH overlap disease. Therapeutic options can be personalized to control coexisting conditions of liver autoimmunity and rheumatic manifestations in AILD-SRD overlap diseases. The collaboration between hepatologists and rheumatologists can lead to significant advances in managing such a complex scenario. In this review, we provide a comprehensive overview on coexisting AILDs in different SRDs and the therapeutic approach in managing these overlap diseases.
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Affiliation(s)
- Chrong-Reen Wang
- Department of Internal Medicine, National Cheng Kung University Hospital, Tainan 70403, Taiwan
| | - Hung-Wen Tsai
- Department of Pathology, National Cheng Kung University Hospital, Tainan 70403, Taiwan
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Bali G, Szilvási A, Inotai D, Varga Á, Sárdy M, Kárpáti S, Medvecz M, Szegedi A, Hidvégi B. Comorbidity of localized scleroderma and primary biliary cholangitis. J Dtsch Dermatol Ges 2018; 16:1323-1327. [DOI: 10.1111/ddg.13693] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/26/2018] [Revised: 04/28/2018] [Accepted: 05/04/2018] [Indexed: 01/13/2023]
Affiliation(s)
- Gábor Bali
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Anikó Szilvási
- Hungarian National Blood Transfusion Service; Transplantation Immunogenetics Laboratory; Budapest Hungary
| | - Dóra Inotai
- Hungarian National Blood Transfusion Service; Transplantation Immunogenetics Laboratory; Budapest Hungary
| | - Ágnes Varga
- Hungarian National Blood Transfusion Service; Transplantation Immunogenetics Laboratory; Budapest Hungary
| | - Miklós Sárdy
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Sarolta Kárpáti
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Márta Medvecz
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Anna Szegedi
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Bernadett Hidvégi
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
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Bali G, Szilvási A, Inotai D, Varga Á, Sárdy M, Kárpáti S, Medvecz M, Szegedi A, Hidvégi B. Komorbidität von lokalisierter Sklerodermie und primär biliärer Cholangitis. J Dtsch Dermatol Ges 2018; 16:1323-1328. [DOI: 10.1111/ddg.13693_g] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/26/2018] [Accepted: 05/04/2018] [Indexed: 12/28/2022]
Affiliation(s)
- Gábor Bali
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Anikó Szilvási
- Hungarian National Blood Transfusion Service; Transplantation Immunogenetics Laboratory; Budapest Hungary
| | - Dóra Inotai
- Hungarian National Blood Transfusion Service; Transplantation Immunogenetics Laboratory; Budapest Hungary
| | - Ágnes Varga
- Hungarian National Blood Transfusion Service; Transplantation Immunogenetics Laboratory; Budapest Hungary
| | - Miklós Sárdy
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Sarolta Kárpáti
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Márta Medvecz
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Anna Szegedi
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
| | - Bernadett Hidvégi
- Department of Dermatology; Venereology and Dermato-Oncology; Faculty of Medicine; Semmelweis University; Budapest Hungary
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Relationships among Antibodies against Extractable Nuclear Antigens, Antinuclear Antibodies, and Autoimmune Diseases in a Brazilian Public Hospital. Autoimmune Dis 2018; 2018:9856910. [PMID: 30364021 PMCID: PMC6186355 DOI: 10.1155/2018/9856910] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/16/2018] [Revised: 08/07/2018] [Accepted: 09/09/2018] [Indexed: 02/07/2023] Open
Abstract
One characteristic of autoimmune diseases (ADs) is the production of autoantibodies for extractable nuclear autoantigens, which may aid in the discrimination of the different types of autoimmune diseases and is related to different antinuclear antibody (ANA) patterns. The present study verified the profile of patient samples tested for extractable nuclear antigens (ENA) antibodies in a public hospital and correlated the ENA results with ANA patterns and patient diagnoses. The study reviewed data in the medical records of patients who underwent anti-ENA tests at a public hospital in the West of the State of Paraná from February 2011 to January 2017. Patients were classified according to age, ethnicity, gender, anti-ENA test results, ANA results, and the presence or absence of AD. Thirty-six (20.9%) samples of the 172 anti-ENA tests were positive, seven (4.1%) samples were undetermined, and 129 (75%) exhibited negative results. The ANA reagent was found in 84.3% of the anti-ENA-positive samples. The anti-SSA/Ro autoantibody exhibited the highest frequency in the group, 41.7% (15/36). The most common pattern was nuclear fine speckled, which was found in 24.3% of the samples. The association results indicated a significant relationship between ANA titer and diagnosis in the anti-ENA- and ANA-positive patients. The anti-ENA-negative patients were diagnosed with an AD in 35% (45/129) of the cases, and 75% (27/36) of the anti-ENA-positive patients were diagnosed with an AD. Systemic lupus erythematosus and scleroderma were the most common pathologies in the antigen-positive patients. The anti-ENA test is a good marker to aid in the complex clinical diagnosis of patients with autoimmune diseases.
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Morphea associated with primary biliary cirrhosis and Waldenstrom macroglobulinemia: Response to rituximab. JAAD Case Rep 2018; 4:784-787. [PMID: 30246126 PMCID: PMC6141651 DOI: 10.1016/j.jdcr.2018.04.016] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022] Open
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Primary biliary cirrhosis associated with systemic sclerosis: diagnostic and clinical challenges. Int J Rheumatol 2011; 2011:976427. [PMID: 22187566 PMCID: PMC3236477 DOI: 10.1155/2011/976427] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/03/2011] [Accepted: 09/07/2011] [Indexed: 12/14/2022] Open
Abstract
Patients with primary biliary cirrhosis (PBC) often have concurrent limited systemic sclerosis (SSc). Conversely, up to one-fourth of SSc patients are positive for PBC-specific antimitochondrial antibodies (AMA). The mechanisms responsible for the co-occurrence of these diseases are largely unknown. Genetic, epigenetic, environmental, and infectious factors appear to be important for the pathogenesis of the disease, but the hierarchy of events are not well defined. Patients with SSc and PBC have an increased morbidity and mortality compared with the general population, but whether the presence of both diseases in an affected individual worsens the prognosis and/or outcome of either disease is not clear. Some case reports suggested that the presence of SSc in PBC patents is associated with a more favorable prognosis of the liver disease, whereas others report an increased mortality in patients with PBC and SSc compared to patients with PBC alone. This paper discusses the features of patients with PBC-associated SSc. Our aims are to clarify some of the pathogenetic, diagnostic, and clinical challenges that are currently faced in the routine management of these patients. We also intend to provide some practical hints for practitioners that will assist in the early identification of patients with PBC-associated SSc.
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Smyk DS, Mytilinaiou MG, Milkiewicz P, Rigopoulou EI, Invernizzi P, Bogdanos DP. Towards systemic sclerosis and away from primary biliary cirrhosis: the case of PTPN22. AUTOIMMUNITY HIGHLIGHTS 2011; 3:1-9. [PMID: 26000122 PMCID: PMC4389021 DOI: 10.1007/s13317-011-0023-y] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 07/16/2011] [Accepted: 07/29/2011] [Indexed: 12/12/2022]
Abstract
Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease characterized by immune-mediated destruction of the small and medium size intrahepatic bile ducts. PBC patients often have concomitant autoimmune diseases, which are most often autoimmune thyroid disease, as well as Sicca syndrome. Occasionally, some PBC patients will also have systemic sclerosis of the limited cutaneous type (lcSSc). Conversely, up to one-fourth of SSc patients are positive for antimitochondrial antibody, the serologic hallmark of PBC. It is also common for SSc patients to have concomitant autoimmune disease, which may include PBC in rare cases. This has led to speculation of shared environmental and/or genetic factors, which lead to the development of PBC in SSc patients and vice versa. Recent genetic studies have revealed associations with several genes in both SSc and PBC. PTPN22 is one gene that has been associated with SSc, but not with PBC. It may be argued that some SSc patients with a particular genotype, which shares genes found in both conditions may develop PBC. Likewise, particular genes such as PTPN22 may infer susceptibility to SSc alone. The presence of PTPN22 may also contribute to the development of SSc in PBC patients. The lack of a large number of overlapping genes may, in part, explain the relative rarity of PBC with SSc and vice versa. This review will examine the literature surrounding the genetic associations of PBC and SSc, and the role of PTPN22 in particular.
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Affiliation(s)
- Daniel S. Smyk
- Institute of Liver Studies, King’s College London School of Medicine at King’s College Hospital, Denmark Hill Campus, London, SE5 9RS UK
| | - Maria G. Mytilinaiou
- Institute of Liver Studies, King’s College London School of Medicine at King’s College Hospital, Denmark Hill Campus, London, SE5 9RS UK
| | - Piotr Milkiewicz
- Liver Unit, Liver Unit and Liver Research Laboratories, Pomeranian Medical University, SPSK2, Powstancow Wlkp, 7270-111 Szczecin, Poland
| | - Eirini I. Rigopoulou
- Department of Medicine and Research Laboratory of Internal Medicine, University of Thessaly Medical School, Thessaly, Mezourlo, Larissa, 41222 Greece
| | - Pietro Invernizzi
- Center for Autoimmune Liver Diseases, Division of Internal Medicine, IRCCS Istituto Clinico Humanitas, Rozzano, Italy
- Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis, Davis, CA USA
| | - Dimitrios P. Bogdanos
- Institute of Liver Studies, King’s College London School of Medicine at King’s College Hospital, Denmark Hill Campus, London, SE5 9RS UK
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Abstract
For systemic sclerosis, laboratory tests can play a supplementary role to clinical investigations, imaging techniques and functional tests. Typical autoantibodies support early diagnosis and help in assigning patients to subgroups of the disease; negative results for antinuclear antibodies suggest exclusion of the diagnosis. To detect organ involvement and comorbidity, the laboratory contributes by clinical chemistry, in certain cases by histopathological findings and by the cytological assessment of broncho-alveolar lavage fluid. Inflammatory parameters are of minor importance. Multiple autoantibody determinations in the course of the disease are not yet helpful. Numerous additional laboratory parameters are of value for investigating pathogenesis, but have not yet been generally introduced into the routine diagnostics of systemic sclerosis.
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Affiliation(s)
- R Mierau
- Labor an der Rheumaklinik Aachen, Burtscheider Markt 24, 52066 Aachen.
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González-López MA, Drake M, González-Vela MC, Armesto S, Llaca HF, Val-Bernal JF. Generalized morphea and primary biliary cirrhosis coexisting in a male patient. J Dermatol 2006; 33:709-13. [PMID: 17040502 DOI: 10.1111/j.1346-8138.2006.00165.x] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Abstract
We present further evidence that generalized morphea (GM) and primary biliary cirrhosis (PBC) may be associated. As far as we know, only six cases with this association have been previously reported in the published work, all of which were observed in women. We describe the case of a 62-year-old man diagnosed with M2-antibody-positive PBC who developed multiple generalized indurated plaques on the trunk and extremities 3 years later. Clinical history, laboratory data and histopathological examination were consistent with the diagnosis of GM. The coexistence in a male of these two entities that predominantly affect females reinforces the hypothesis that a pathogenic link exists between GM and PBC. Consequently, PBC should be looked for in all patients with GM.
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Affiliation(s)
- Marcos A González-López
- Dermatology Service, Marqués de Valdecilla University Hospital, Medical Faculty, University of Cantabria, Avda. de Valdecilla s/n, E-39008 Santander, Spain
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Wollina U, Graefe T, Oelzner P, Hein G, Schreiber G. Pseudoainhum of all fingers associated with Reynolds' syndrome and breast cancer: report of a case and review of the literature. J Am Acad Dermatol 2001; 44:381-4. [PMID: 11174422 DOI: 10.1067/mjd.2001.104971] [Citation(s) in RCA: 18] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022]
Abstract
Pseudoainhum is a rare disorder characterized by digital constrictions leading to autoamputation. We report a bilateral pseudoainhum of all fingers in a 64-year-old fair-skinned woman with breast cancer, systemic scleroderma, and primary biliary cirrhosis. The overlap between scleroderma and primary biliary cirrhosis with antimitochondrial antibodies M2 is also known as Reynolds' syndrome. Although pseudoainhum has been associated with many conditions, this particular association is exceptional and has yet not been described.
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Affiliation(s)
- U Wollina
- Department of Dermatology, Friedrich-Schiller-University Jena, Germany
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