DOCSLIB.ORG

Hepatic Manifestations of Autoimmune Rheumatic Diseases ANNALS of GASTROENTEROLOGY 2005, 18(3):309-324309

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Hepatic Manifestations of Autoimmune Rheumatic Diseases ANNALS of GASTROENTEROLOGY 2005, 18(3):309-324309 Hepatic manifestations of autoimmune rheumatic diseases ANNALS OF GASTROENTEROLOGY 2005, 18(3):309-324309 Review Hepatic manifestations of autoimmune rheumatic diseases Aspasia Soultati, S. Dourakis SUMMARY the association between primary autoimmune rheumatolog- ic disease and associated hepatic abnormalities and the Autoimmune rheumatic diseases including Systemic Lu- pharmaceutical interventions that are related to liver dam- pus Erythematosus, Rheumatoid Arthritis, Sjogrens syn- age are presented. drome, Myositis, Antiphospholipid Syndrome, Behcets syndrome, Scleroderma and Vasculitides have been associ- Key words: Connective Tissue Disease, Systemic Lupus Ery- ated with hepatic injury by virtue of multisystem immune thematosus, Rheumatoid Arthritis, Sjogrens syndrome, and inflammatory involvement. Liver involvement preva- Myositis, Giant-Cell Arteritis, Antiphospholipid Syndrome, lence, significance and specific hepatic pathology vary. Af- Behcets syndrome, Scleroderma, Vasculitis, Steatosis, Nod- ter careful exclusion of potentially hepatotoxic drugs or co- ular Regenerative Hyperplasia, portal hypertension, Autoim- incident viral hepatitis the question remains whether liver mune Hepatitis, Primary Biliary Cirrhosis, Primary Scleros- involvement emerges as a manifestation of generalized con- ing Cholangitis nective tissue disease or it reflects an underlying primary liver disease sharing an immunological mechanism. Com- 1. Introduction monly recognised features include mild elevation of liver A variety of autoimmune rheumatic diseases includ- laboratory values and non specific histological images. ing Systemic Lupus Erythematosus, Rheumatoid Arthri- Hepatic steatosis, nodular regenerative hyperplasia, por- tis, Sjogrens syndrome, Myositis, Vasculitis, Antiphos- tal vein obliteration and portal hypertension, features of pholipid Syndrome, Behcets syndrome and Systemic primary biliary cirrhosis, vascular disorders, granuloma- Sclerosis, have been associated with liver involvement tous reactions and rarely portal fibrosis with abnormal lob- and their prevalence, significance and specific hepatic ular architecture are possible histological findings. Diag- pathology varies.1 Although advanced liver disease with nosis can be established on serological, histological and cirrhosis and liver failure is rarely documented in patients clinical features and after careful exclusion of other possi- with connective tissue diseases, clinical and biochemical ble causes. Association between antirheumatic drugs and evidence of associated liver abnormalities is commonly hepatic dysfunction has been established in the past. Liver identified2 . Previous treatment with potentially hepato- involvement may vary from a mild asymptomatic elevation toxic drugs or coincident viral hepatitis have usually been of liver transaminases or cholestasis parameters to a ful- implicated as predominant causes of liver disorders. minant hepatitis. A review of the literature to determine However, even after careful exclusion of these aetiolo- gies, the question remains whether to classify the patient as having a primary liver disease with associated autoim- mune, clinical, and laboratory features or as having liver 2nd Department of Medicine, Medical School, Athens University, Hippokration General Hospital, Athens. Soultati Aspasia, Medical disease as a manifestation of generalized connective tis- Doctor in training, Dourakis S.P, Associate Professor in Internal sue disease. Medicine-Hepatology Hepatic steatosis, nodular regenerative hyperplasia, Author for corresponding and reprints request: portal vein obliteration and portal hypertension, features of primary biliary cirrhosis, vascular disorders, granulo- S.P Dourakis, 28 Achaias st, 115 23 Athens, Greece. Tel 210 6918464, 6932272477, FAX 210 6993693. matous reactions and rarely portal fibrosis with abnor- e-mail: [email protected] mal lobular architecture are possible histological find- [email protected] ings.3 (Table 1) In a series conducted in 306 patients (106 310 ASPASIA SOULTATI, S. DOURAKIS with SLE, 71 with Sjogrens syndrome, 59 with rheuma- agent. Five of 9 patients in whom the hepatic lesion pro- toid arthritis, 27 with scleroderma, 30 with polymyositis, gressed had hepatotropic virus infection (4 with HCV and 13 with polyarteritis nodosa) liver disturbance was and 1 with HBV), and the other 4 patients suffered from 4 documented in 43% of these patients and resulted from autoimmune liver diseases. various causes. Liver disease was characterized by mild Association between antirheumatic drugs and hepatic and transient elevation of liver laboratory values, mini- dysfunction has been established in the past. Liver in- mal change in liver histology. In 8 of 14 patients with volvement may vary from a mild asymptomatic elevation histologically proven chronic hepatitis or cirrhosis, hepa- of liver transaminases or cholestasis parameters to a ful- totropic virus was identified as the potential evoking minant hepatitis. Rheumatic DISEASE SIGNS-LFTS LIVER DISEASE SYSTEMIC LUPUS ERYTHEMATOSUS Hepatomegaly Steatosis Splenomegaly Autoimmune hepatitis, Jaundice granulomas, ALT­ haemochromatosis, cholestasis, primary biliary cirrhosis, non-specific reactive changes, ANTIPHOSPHOLIPID SYNDROME Hepatomegaly Autoimmune hepatitis Jaundice Nodular Regenerative Hyperplasia ALT­ Budd Chiari syndrome RHEUMATOID ARTHRITIS ALP­ necrotizing hepatic arteritis ã-GT­ Non specific histological findings Steatosis Primary biliary cirrhosis Nodular Regenerative Hyperplasia FELTYS SYNDROME Hepatomegaly Non specific histological findings Steatosis Portal hypertension Nodular Regenerative Hyperplasia ALP­ MYOSITIS Jaundice Autoimmune hepatitis ALP­ Primary biliary cirrhosis SCLERODERMA Hepatomegaly Primary biliary cirrhosis, Jaundice autoimmune hepatitis, liver enzymes­ Cryptogenic cirrhosis, idiopathic portal hypertension, primary sclerosing cholangitis nodular regenerative hyperplasia SJOGRENS SYNDROME liver enzymes­ Primary biliary cirrhosis Jaundice Autoimmune hepatitis Cryptogenic cirrhosis Polyarteritis nodosa Hepatomegaly Hematomas Jaundice aneurysm liver enzymes­ Hypersensitivity vasculitis Hepatomegaly Hepatitis Jaundice liver enzymes­ Granulomatous vasculitis ALP­ Granulomas ã-GT­ Table 1: Hepatic manifestations of autoimmune rheumatic diseases. LFTs=liver function tests Hepatic manifestations of autoimmune rheumatic diseases 311 A Medline search of all published papers and case be attributed either to the disease process itself or to the reports of hepatic involvement in autoimmune rheumatic steroid treatment.14 During the histological evaluation diseases published between 1966 and 2004 was made. of 19 patients with SLE and hepatomegaly or abnormal liver function tests, 11 sheared minor alterations in liver 2. Systemic lupus erythematosus biopsy including fatty infiltration, portal tract fibrosis and Systemic lupus erythematosus (SLE) is a chronic au- mild to moderate cellular infiltration and two patients toimmune disease sharing multisystem involvement and had chronic active hepatitis which progressed to cirrho- diverse clinical and serological manifestations, principally sis.15 According to Gibson and Myers, portal inflamma- affecting women during the child bearing years5 . Clini- tion was revealed in 5 of the 81 SLE patients, fatty liver cally significant hepatic dysfunction is generally regard- in one and chronic active hepatitis in one patient.10 ed as unusual in SLE and previous treatment with po- Autoimmune hepatitis (Lupoid hepatitis) is a tentially hepatotoxic drugs or viral hepatitis have usual- chronic necroinflammatory liver disease of unknown or- ly been implicated as the most relevant causes for such unusual complications. Yet careful exclusion of such igin associated with circulating autoantibodies high se- causative factors raises a quite complicated dilemma re- rum globulin level and hepatocellular necrosis and in- garding differential diagnosis between liver disease as a flammation which leads to cirrhosis and hepatic failure. manifestation of SLE or primary liver disease with asso- The term lupoid hepatitis is inaccurate and reflects the ciated autoimmune clinical and laboratory features re- high prevalence of autoantibodies in this disorder. Dif- sembling SLE.6 ferential diagnosis between autoimmune hepatitis and SLE-associated hepatitis remains a clinical challenge, for The frequency of hepatic involvement in SLE is about giving rise to the need establishment of more sufficient 7 8-23% consisting of several pathophysiological features diagnostic criteria for both diseases. A current defini- and emerging with clinical signs including hepatomega- tion of lupoid hepatitis includes histological evidence of ly (39%), splenomegaly (6%), jaundice (24%) and final- chronic active hepatitis, exclusion of any possible viral ly in 21% of the patients with elevations of liver enzymes causes and positive antinuclear antibodies or LE cell 8 or with abnormal liver histology. According to a retro- preparation. Yet it can be distinguished from SLE by the spective study conducted by Gibson and Myers abnor- absence, usually, of antibodies to double stranded DNA. mal values where revealed in 55% of 81 patients diag- Lupoid hepatitis shares common clinical manifestations nosed with SLE and 29% of them had no cause for the with SLE such as fever, arthralgia, malaise, loss of appe- documented changes other than SLE.9 In a study by Mill- tite and jaundice. Several cases reported in the litera- er et al, liver enzyme
Load more

Recommended publications
  • A Rare Case Report of Polyangiitis Overlap Syndrome: Granulomatosis with Polyangiitis and Eosinophilic Granulomatosis with Polyangiitis Michele V
    Quan et al. BMC Pulmonary Medicine (2018) 18:181 https://doi.org/10.1186/s12890-018-0733-2 CASE REPORT Open Access A rare case report of polyangiitis overlap syndrome: granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis Michele V. Quan1* , Stephen K. Frankel2, Mehrnaz Maleki-Fischbach3 and Laren D. Tan1* Abstract Background: Granulomatosis with polyangiitis (GPA) is a systemic ANCA-associated vasculitis characterized by necrotizing granulomatous inflammation and a predilection for the upper and lower respiratory tract. Eosinophilic granulomatosis with polyangiitis (EGPA) is also a systemic ANCA-associated vasculitis, but EGPA is characterized by eosinophilic as well as granulomatous inflammation and is more commonly associated with asthma and eosinophilia. Polyangiitis overlap syndrome is defined as systemic vasculitis that does not fit precisely into a single category of classical vasculitis classification and/or overlaps with more than one category. Several polyangiitis overlap syndromes have been identified, however, there are very few case reports of an overlap syndrome involving both GPA and EGPA in the medical literature. Case presentation: We conducted a PUBMED literature review using key words ‘granulomatosis with polyangiitis,’ ‘Wegener’s,’‘GPA,’‘eosinophilic granulomatosis with polyangiitis,’‘Churg-Strauss,’‘EGPA,’‘overlap syndrome,’‘Wegener’s with eosinophilia,’ and ‘GPA with eosinophilia’ in English only journals from 1986 to 2017. Relevant case reports and review articles of overlap syndromes of GPA and EGPA were identified. We aim to report a unique case of GPA and EGPA overlap syndrome and review the cases that have been previously described. Between 1986 and 2017, we identified 15 cases that represent an overlap syndrome with compelling features of both GPA and EGPA.
    [Show full text]
  • Understanding and Managing Scleroderma
    Understanding and Managing Scleroderma A publication of Scleroderma Foundation 300 Rosewood Drive, Suite 105 Danvers, MA 01923 Maureen D. Mayes, M.D., M.P.H. Understanding and Understanding My notes and Managing Scleroderma Managing Scleroderma This booklet is intended to help people with scleroderma, their families and others interested ________________________ in learning more about the disease to better understand what scleroderma is, what effects ________________________ it may have, and what those with scleroderma can do to help themselves and their physicians ________________________ manage the disease. It answers some of the most frequently asked questions about ________________________ A publication of Maureen D. Mayes, M.D., M.P.H. Scleroderma Foundation 300 Rosewood Drive, Suite 105 scleroderma. Danvers, MA 01923 800-722-HOPE (4673) www.scleroderma.org www.facebook.com/sclerodermaUS www.twitter.com/scleroderma ________________________ Disclaimer The Scleroderma Foundation does not provide medical advice nor does it ________________________ endorse any drug or treatment mentioned herein. ________________________ The material contained in this booklet is presented for general information only. It is not intended to provide medical advice, to answer questions specific to the condition or problems of particular individuals, nor in ________________________ any way to substitute for the professional advice and care of qualified physicians. Mention of particular drugs and/or treatments is for ________________________ information purposes only and does not constitute an endorsement of said drugs and/or treatments. ________________________ Thanks! ________________________ The Scleroderma Foundation expresses its deep appreciation to the many ________________________ physicians whose efforts have led to this booklet. Special thanks are owed to Maureen D. Mayes, M.D., M.P.H., of the ________________________ University of Texas McGovern Medical School, Houston.
    [Show full text]
  • The Voice of the Patient
    The Voice of the Patient A series of reports from the U.S. Food and Drug Administration’s (FDA’s) Patient-Focused Drug Development Initiative Systemic Sclerosis Public Meeting: October 13, 2020 Report Date: June 30, 2021 Center for Drug Evaluation and Research (CDER) U.S. Food and Drug Administration (FDA) 1 Table of Contents Introduction ............................................................................................................................ 3 Overview of Systemic Sclerosis ................................................................................................................. 3 Meeting Overview ..................................................................................................................................... 3 Report Overview and Key Themes ............................................................................................................ 5 Topic 1: Disease Symptoms and Daily Impacts That Matter Most to Patients .......................... 6 Perspectives on Most Significant Symptoms ............................................................................................ 6 Overall Impact of Systemic Sclerosis on Daily Life .................................................................................... 9 Topic 2: Patient Perspectives on Treatments for Systemic Sclerosis ....................................... 11 Perspectives on Current Treatments ...................................................................................................... 11 Perspectives on Ideal
    [Show full text]
  • Visual Recognition of Autoimmune Connective Tissue Diseases
    Seeing the Signs: Visual Recognition of Autoimmune Connective Tissue Diseases Utah Association of Family Practitioners CME Meeting at Snowbird, UT 1:00-1:30 pm, Saturday, February 13, 2016 Snowbird/Alta Rick Sontheimer, M.D. Professor of Dermatology Univ. of Utah School of Medicine Potential Conflicts of Interest 2016 • Consultant • Paid speaker – Centocor (Remicade- – Winthrop (Sanofi) infliximab) • Plaquenil – Genentech (Raptiva- (hydroxychloroquine) efalizumab) – Amgen (etanercept-Enbrel) – Alexion (eculizumab) – Connetics/Stiefel – MediQuest • Royalties Therapeutics – Lippincott, – P&G (ChelaDerm) Williams – Celgene* & Wilkins* – Sanofi/Biogen* – Clearview Health* Partners • 3Gen – Research partner *Active within past 5 years Learning Objectives • Compare and contrast the presenting and Hallmark cutaneous manifestations of lupus erythematosus and dermatomyositis • Compare and contrast the presenting and Hallmark cutaneous manifestations of morphea and systemic sclerosis Distinguishing the Cutaneous Manifestations of LE and DM Skin involvement is 2nd most prevalent clinical manifestation of SLE and 2nd most common presenting clinical manifestation Comprehensive List of Skin Lesions Associated with LE LE-SPECIFIC LE-NONSPECIFIC Cutaneous vascular disease Acute Cutaneous LE Vasculitis Leukocytoclastic Localized ACLE Palpable purpura Urticarial vasculitis Generalized ACLE Periarteritis nodosa-like Ten-like ACLE Vasculopathy Dego's disease-like Subacute Cutaneous LE Atrophy blanche-like Periungual telangiectasia Annular Livedo reticularis
    [Show full text]
  • Gether with Anti -Synthetase, Ro52 and Jo-1-Double Positive: High Rate of Malignancies, Poorer E.G
    Journal of Neuromuscular Diseases 5 (2018) 109–129 109 DOI 10.3233/JND-180308 IOS Press Review Current Classification and Management of Inflammatory Myopathies Jens Schmidt∗ Department of Neurology, Muscle Immunobiology Group, Neuromuscular Center, University Medical Center G¨ottingen, G¨ottingen, Germany Abstract. Inflammatory disorders of the skeletal muscle include polymyositis (PM), dermatomyositis (DM), (immune mediated) necrotizing myopathy (NM), overlap syndrome with myositis (overlap myositis, OM) including anti-synthetase syndrome (ASS), and inclusion body myositis (IBM). Whereas DM occurs in children and adults, all other forms of myositis mostly develop in middle aged individuals. Apart from a slowly progressive, chronic disease course in IBM, patients with myositis typically present with a subacute onset of weakness of arms and legs, often associated with pain and clearly elevated creatine kinase in the serum. PM, DM and most patients with NM and OM usually respond to immunosuppressive therapy, whereas IBM is largely refractory to treatment. The diagnosis of myositis requires careful and combinatorial assessment of (1) clinical symptoms including pattern of weakness and paraclinical tests such as MRI of the muscle and electromyogra- phy (EMG), (2) broad analysis of auto-antibodies associated with myositis, and (3) detailed histopathological work-up of a skeletal muscle biopsy. This review provides a comprehensive overview of the current classification, diagnostic pathway, treatment regimen and pathomechanistic understanding of myositis. Keywords: Skeletal muscle, muscle inflammation, myositis, immunosuppression, neuroinflammation, autoimmunity INTRODUCTION requires testing of auto-antibodies, histological eval- uation of a skeletal muscle biopsy and further tests Inflammatory myopathies (synonym: idiopathic including muscle MRI and EMG. Novel diagnostic inflammatory myopathy, IIM) –in short: myositis– criteria have recently been established, but an update are rare conditions that can affect multiple organs will be required (see below for details).
    [Show full text]
  • Genes in Eyecare Geneseyedoc 3 W.M
    Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease.
    [Show full text]
  • The Articular Manifestations of Progressive Systemic Sclerosis (Scleroderma) MURRAY BARON, PETER LEE, and EDWARD C
    Ann Rheum Dis: first published as 10.1136/ard.41.2.147 on 1 April 1982. Downloaded from Annals ofthe Rheumatic Diseases, 1982, 41, 147-152 The articular manifestations of progressive systemic sclerosis (scleroderma) MURRAY BARON, PETER LEE, AND EDWARD C. KEYSTONE From the University of Toronto Rheumatic Disease Unit, The Wellesley Hospital, 160 Wellesley Street East, Toronto, Ontario, Canada M4Y 1J3 SUMMARY The articular manifestations of progressive systemic sclerosis (PSS) were studied in 38 patients. Of these, 66 % experienced joint pain and 61 % had signs of joint inflammation. Limita- tion of joint movement was seen in 45 %. Radiological abnormalities included periarticular osteoporosis (42 %), joint space narrowing (34%), and erosions (40%). Erosive disease did not correlate with disease duration, presence of rheumatoid factor, antinuclear antibodies, distal tuft resorption, or the extent of the scleroderma skin changes. Calcinosis was seen more frequently in those patients with articular erosions (67 %). Erosive osteoarthritis of the distal interphalangeal joints (7 patients) was associated with impaired finger flexion. Joint involvement in PSS occurs frequently and may resemble rheumatoid arthritis in the early stages but is less destructive. The occurrence of unrelated arthropathy, such as primary osteoarthritis, is not uncommon, and its differentiation from true PSS joint disease can be difficult. Articular manifestations are common in progressive spective study and fulfilling the preliminary diagnos- systemic sclerosis (scleroderma, PSS), and joint pain tic criteria for PSS1 were evaluated by one author is a frequent presenting feature of this disease.' Joint (M.B.). A history of joint manifestations was symptoms have been noted in 12 to 66% of patients obtained in each case according to a standard pro- http://ard.bmj.com/ at the time of diagnosis2`6 and in 24 to 97% of tocol.
    [Show full text]
  • A Case of Undifferentiated Connective Tissue Disease
    Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 Case Report A case of Undifferentiated connective tissue disease Chatterjee A,1 Chatterjee K,2 Sarkar N,3 1Assistant Professor, 2Senior Resident, Department of Pediatrics, Calcutta National Medical College 3 Registrar, Apollo Gleaneagles Hospital,Kolkata. ABSTRACT Undifferentiated connective tissue disease is an overlap syndrome in which the features of more than one disease is present but their complete diagnosis is lacking. We are presenting an 11year child with fever, arthritis, polyserositis, myalgia, nephritis, sclerodactyly with positive anti-dsDNA and anti-Smith antibody. She improved with prednisolone and cyclophosphamide. Key Words: Undifferentiated connective tissue disease, polyserositis, arthritis, myalgia, sclerodactyly. INTRODUCTION and investigation showed ESR-95mm/hour. After Connective tissue disease result from autoimmune 4 months of fever ,she developed pain, swelling processes that lead to inflammation of target organs. and movement restriction of the large joints, it was Rarely,children develop overlap syndromes, one symmetric with no small joint involvement. She is such is mixed connective tissue disease(MCTD) the third child of a non-consanguinous marriage, where features of two or more major rheumatic with no significant past illness and no family history disorders are seen-juvenile rheumatoid of musculoskeletal disease. arthritis(JRA), systemic lupus erythematosus She was admitted to a hospital at 8 months of fever (SLE), juvenile dermatomyositis(JDM) and with joint pain and swelling, weakness and pallor, systemic sclerosis. Children may also have cervical lymphadenopathy and abdominal undifferentiated connective tissue disease in which distention. Investigation showed Hb-8.3gm/ manifestations strongly suggest but do not meet dL,ESR-60mm/hour, malaria parasite, sputum for diagnostic criteria for a specific rheumatic disease.
    [Show full text]
  • Scleroderma Phenotype'' This Information Is Current As of September 27, 2021
    Autoantibodies to Fibrillin-1 Activate Normal Human Fibroblasts in Culture through the TGF-β Pathway to Recapitulate the ''Scleroderma Phenotype'' This information is current as of September 27, 2021. Xiaodong Zhou, Filemon K. Tan, Dianna M. Milewicz, Xinjian Guo, Constantin A. Bona and Frank C. Arnett J Immunol 2005; 175:4555-4560; ; doi: 10.4049/jimmunol.175.7.4555 http://www.jimmunol.org/content/175/7/4555 Downloaded from References This article cites 32 articles, 11 of which you can access for free at: http://www.jimmunol.org/content/175/7/4555.full#ref-list-1 http://www.jimmunol.org/ Why The JI? Submit online. • Rapid Reviews! 30 days* from submission to initial decision • No Triage! Every submission reviewed by practicing scientists • Fast Publication! 4 weeks from acceptance to publication by guest on September 27, 2021 *average Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2005 by The American Association of Immunologists All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. The Journal of Immunology Autoantibodies to Fibrillin-1 Activate Normal Human Fibroblasts in Culture through the TGF-␤ Pathway to Recapitulate the “Scleroderma Phenotype”1 Xiaodong Zhou,2* Filemon K. Tan,* Dianna M.
    [Show full text]
  • Prevalence and Incidence of Rare Diseases: Bibliographic Data
    Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct.
    [Show full text]
  • Systemic Scleroderma
    Systemic scleroderma Description Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body. The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud phenomenon, which can occur weeks to years before fibrosis. In Raynaud phenomenon, the fingers and toes of affected individuals turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities. Another early sign of systemic scleroderma is puffy or swollen hands before thickening and hardening of the skin due to fibrosis. Skin thickening usually occurs first in the fingers (called sclerodactyly) and may also involve the hands and face. In addition, people with systemic scleroderma often have open sores (ulcers) on their fingers, painful bumps under the skin (calcinosis) , or small clusters of enlarged blood vessels just under the skin (telangiectasia). Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).
    [Show full text]
  • Eosinophilic Fasciitis (Shulman Syndrome)
    CONTINUING MEDICAL EDUCATION Eosinophilic Fasciitis (Shulman Syndrome) Sueli Carneiro, MD, PhD; Arles Brotas, MD; Fabrício Lamy, MD; Flávia Lisboa, MD; Eduardo Lago, MD; David Azulay, MD; Tulia Cuzzi, MD, PhD; Marcia Ramos-e-Silva, MD, PhD GOAL To understand eosinophilic fasciitis to better manage patients with the condition OBJECTIVES Upon completion of this activity, dermatologists and general practitioners should be able to: 1. Recognize the clinical presentation of eosinophilic fasciitis. 2. Discuss the histologic findings in patients with eosinophilic fasciitis. 3. Differentiate eosinophilic fasciitis from similarly presenting conditions. CME Test on page 215. This article has been peer reviewed and is accredited by the ACCME to provide continuing approved by Michael Fisher, MD, Professor of medical education for physicians. Medicine, Albert Einstein College of Medicine. Albert Einstein College of Medicine designates Review date: March 2005. this educational activity for a maximum of 1 This activity has been planned and implemented category 1 credit toward the AMA Physician’s in accordance with the Essential Areas and Policies Recognition Award. Each physician should of the Accreditation Council for Continuing Medical claim only that credit that he/she actually spent Education through the joint sponsorship of Albert in the activity. Einstein College of Medicine and Quadrant This activity has been planned and produced in HealthCom, Inc. Albert Einstein College of Medicine accordance with ACCME Essentials. Drs. Carneiro, Brotas, Lamy, Lisboa, Lago, Azulay, Cuzzi, and Ramos-e-Silva report no conflict of interest. The authors report no discussion of off-label use. Dr. Fisher reports no conflict of interest. We present a case of eosinophilic fasciitis, or Shulman syndrome apart from all other sclero- Shulman syndrome, in a 35-year-old man and dermiform states.
    [Show full text]