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Tirunelveli Medical College the Tamilnadu Dr A CLINICAL STUDY OF AUTOIMMUNE CONNECTIVE TISSUE DISEASES AND UTILITY OF ANTINUCLEAR ANTIBODY TESTING IN DIAGNOSIS, CLINICAL CORRELATION AND DISEASE MONITORING Dissertation submitted in partial fulfillment of the Requirement for the award of the Degree of M.D. DERMATO-VENERO-LEPROLOGY BRANCH XII-A APRIL 2017 TIRUNELVELI MEDICAL COLLEGE THE TAMILNADU DR. M.G.R. MEDICAL UNIVERSITY, CHENNAI, TAMILNADU CERTIFICATE This is to certify that the dissertation entitled “A CLINICAL STUDY OF AUTOIMMUNE CONNECTIVE TISSUE DISEASES AND UTILITY OF ANTINUCLEAR ANTIBODY TESTING IN DIAGNOSIS, CLINICAL CORRELATION AND DISEASE MONITORING” submitted by Dr. VIVEK KUMAR. P to the Tamilnadu Dr. M.G.R Medical University, Chennai, is an original work done in the Department of Dermato-Venero- Leprology, Tirunelveli Medical College for the award of the Degree of MD Dermato- Venero- Leprology under our guidance and supervision during the academic period of 2014-2017. Dr P. Nirmaladevi MD., (DERM) Guide cum Professor and Head of the Department Department of Dermato-Venero- Leprology , Tirunelveli Medical College, Tirunelveli Dr K.Sithy Athiya Munavarah DCH., MD., (PATHO) THE DEAN , Tirrunelveli Medical College, Tirunelveli. DECLARATION I solemnly declare that the dissertation titled “A CLINICAL STUDY OF AUTOIMMUNE CONNECTIVE TISSUE DISEASES AND UTILITY OF ANTINUCLEAR ANTIBODY TESTING IN DIAGNOSIS, CLINICAL CORRELATION AND DISEASE MONITORING” is done by me at the Department of Dermato-Venero- Leprology, Tirunelveli Medical College. I also declare that this bonafide work or a part of this work was not submitted by me for any award, degree, or diploma to any other University, Board, either in India or abroad. This is submitted to the Tamilnadu Dr. M.G.R. Medical University, Chennai in partial fulfillment of the requirements for the award of M.D Degree in Dermato-Venero-Leprology. Place: Tirunelveli. Dr. VIVEK KUMAR. P Date: Postgraduate Student, M.D DVL, Department of DVL Tirunelveli Medical College, Tirunelveli. ACKNOWLEDGEMENT I take immense pleasure to acknowledge all those who helped me to make this dissertation possible. I am grateful to the Dean, Tirunelveli Medical College and Medical Superintendent of the Tirunelveli Medical College Hospital for permitting me undertake this study. I express my profound sense of gratitude to Dr.P.Nirmaladevi MD, Professor and Head of the Department of DVL, Tirunelveli Medical College, for permitting me and for being my guide and for her valuable suggestions and guidance throughout the period of the study. I whole heartedly thank Dr.K.Punithavathi M.D., Associate Professor, for giving her valuable suggestions and guidance throughout the period of the study. I sincerely thank Dr.M.Selvakumar M.D., Associate Professor, Venereology Department for his valuable suggestions. I express my deep sense of gratitude to Dr.S.Judith Joy MD., Dr.R.Karthikeyan MD., Dr.P.Kalyanakumar DDVL., Dr.K.Dhanalakshmi MD., Dr.P.Sivayadevi MD., Dr.S.Seeniammal MD., Dr.A.N.M.MaalikBabu MD., my Assistant Professors for their constant support and encouragement. I whole heartedly thank my senior PG Dr.A.Santhiya vadhana MD., and junior PGs for their support and cheer. I owe my sincere thanks to all those patients who participated in the study for their co-operation which made this study possible. I thank my family and friends for their encouragement and support during this study. Finally I thank the Almighty for without Him nothing would have been possible. CONTENTS S.NO TITLE PAGE NO 1 INTRODUCTION 1 3 2 REVIEW OF LITERATURE 3 AIMS AND OBJECTIVES 69 4 MATERIALS AND METHODOLOGY 70 5 OBSERVATIONS AND RESULTS 72 6 DISCUSSION 89 7 SUMMARY 96 8 CONCLUSION 100 9 BIBLIOGRAPHY ANNEXURES i. PROFORMA ii. MASTER CHART iii. KEY TO MASTER CHART ABBREVIATIONS CTD – Connective tissue disease ANA – Antinuclear antibody IIF – Indirect immunofluorescence ELISA – Enzyme linked immunosorbent assay ACR – American college of Rheumatology MHC – Major histocompatibility complex HLA – Human leukocyte antigen AIRE – Autoimmune regulator CTLA-4 – Cytotoxic T-Lymphocyte associated protein 4 PD 1 – Programmed cell death protein 1 PTPN 22 – Protein tyrosine phosphatase, non-receptor type 22 SLE – Systemic lupus erythematosus RA – Rheumatoid arthritis TLR – Toll-like receptor DC – Dendritic cell IFN-α – Interferon α TNF-α – Tumour necrosis factor α APC – Antigen presenting cell EBV – Epstein Barr virus SCLE – Subcutaneous lupus erythematosus CCLE – Chronic cutaneous lupus erythematosus DLE – Discoid lupus erythematosus DM – Dermatomyositis PM – Polymyositis SS/ SjS – Sjogren’s syndrome SSc – Systemic sclerosis UV – Ultraviolet HSP – Heat shock protein IL – Interleukin RNP – Ribonucleoprotein CTGF – Connective tissue growth factor TGF-β – Transforming growth factor β PHA – Phytohaemagglutinin VCAM – Vascular cell adhesion protein BAFF – B-cell activating factor MCTD – Mixed connective tissue disease UCTD – Undifferentiated connective tissue disease KCS – Keratoconjunctivitis sicca ILD – Interstitial lung disease PCNA – Proliferating cell nuclear antigen APS – Antiphospholipid syndrome CRP – C- Reactive protein ESR – Erythrocyte sedimentation rate RP – Raynaud’s phenomenon SRC – Scleroderma renal crisis INTRODUCTION Autoimmune disease is a disorder with destruction of the tissue due to autoimmune phenomenon. Connective tissue diseases (CTDs) are a collection of autoimmune disorders characterised by antinuclear antibodies (ANAs) in the serum of the patients. ANAs are autoantibodies directed against various cell organelles including cytoplasm, nuclei, nucleoli, subcellular structures and cell surfaces.1The antigens recognised are mainly proteins and nucleic acids. These autoantibodies are involved in the pathogenesis of the disease and also help in the diagnosing and treating the disease as well as in assessing the prognosis of the disease. CTDs relevant to dermatology are Systemic Lupus Erythematosus, drug induced lupus, Scleroderma, Dermatomyositis, Sjogren’s syndrome and mixed connective tissue diseases. Systemic autoimmune diseases (as opposed to organ-specific autoimmune diseases) are characterized by the systemic involvement of autoimmune tissue destruction in various organs due to non-organ specific autoantibodies that target antigens that are present in almost any type of cell. The antibodies relevant to these CTDs are anti –dsDNA,anti –Sm, anti-nRNP,antihistone, anti-Ro (SS-A), anti-LA (SS-B), anti-Scl- 70, anticentromere, antiribosomal P protein, antinucleolar, antinucleosomal antibodies, antiphospholipid antibodies. 2 1 Common techniques for detecting ANA are indirect immunofluorescence (IIF) and enzyme-linked immunosorbent assay (ELISA). IIF using Hep-2 cell as substrate reveals different staining patterns and the titre is also obtained. Western blot technique (immunoblotting) is used to detect specific antibodies. Sensitivity and specificity varies with different techniques. 3The availability, accessibility and cost effectiveness determine the utility of the tests and the same technique should be followed for monitoring also. Recent ACR guidelines suggest that the indirect immunofluorescence test for ANA remains the gold standard.ANA positivity should be interpreted against the clinical background since it can be positive in normal individuals and other rheumatic diseases. There are only very few studies on assessing the disease activity and severity of CTD with the ANA profile pattern. This study will focus on determining the clinicodiagnostic correlation in suspected CTD patients and the disease activity and also severity assessment in patients diagnosed with CTD with relevance to ANA profile. 2 REVIEW OF LITERATURE Connective tissue diseases are the group of autoimmune disorders which have both cutaneous and systemic involvement. Cutaneous involvement often precedes the systemic involvement. EPIDEMIOLOGY: Systemic Lupus Erythematosus (SLE): The prevalence of SLE varies from 1.8–4.8 per 100,000 population. Its highest incidence of SLE occurs in the age group of 15 to 40 years, with a male to female ratio of approximately 1: 8.4 SLE affects people of all ages, but in children and the elderly, the female-to-male ratio is about 2:1.The prevalence of SLE is three times more shared in black individuals than in white individuals. SLE has the tendency to appear in early adult or adolescent age group and the onset of initial symptoms or signs in females are around 38 years. 5 Systemic scleroderma (SSc): Systemic scleroderma has affected between 2.3 and 10 per million populations. The ratio of males to females ranges from 1:3 to 6. Onset of 6 SSc occurs around fourth decade in females and later in males. 3 Dermatomyositis (DM): The annual incidence of DM/PM ranges from 2 to 10 new cases per million persons. Bimodal distribution occurs with peaks between ages 10 and 15 years in children and between ages 45 and 60 years in adults. 7Theincidence is higher in women in comparison with men (2.5:1). The average age of onset of PM/DM without malignancy appears to be around fifth and sixth decades, whilepatients with underlying malignancy are older by almost one and half decades and more commonly have DM. Sjogren’s syndrome (SS): SS can occur in any age group, but it affects females than males as in other CTDs (90% of all the patients). SS occurs in the fourth, fifth and sixth decades of life. 8 Mixed Connective Tissue Disease (MCTD): The incidence of MCTD occurs more frequently in females than males (4:1) and the age group ranges between 30 to 50 years of age. 9 ETIOPATHOGENESIS
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