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    Autoimmune Disease (Autoimmune Disorder)

    Lupusfoto[1]

    Autoimmune disorders arise from an inappropriate immune response against substances and tissues normally present in the body. They are broadly grouped into two categories: organ-specific disorders (Hashimoto thyroiditis, Addison disease, pernicious anemia, etc.) and non-organ-specific disorders (systemic lupus erythematosus, Sjogren syndrome, rheumatoid arthritis, scleroderma, etc.).

    The disorder is associated with this process: auto-immune.

    Presentation

    Symptoms depend on type of reaction due to autoimmunity and its site. The common symptoms are fatigue, fever, malaise, joint pain, and rash. Anaphylaxis is characterized by dizziness, rash itching, breathless, tachycardia and lip swelling. Autoimmunity against blood components is characterized by fatigue, yellow urine, and fever. Involvement of lung is characterized by cough, fever and dyspnea [6].

    Skin
    Alopecia
    • But when her hair kept falling out, she went to a dermatologist, who diagnosed alopecia, a disease in which the immune system attacks the hair follicles.[prevention.com]
    • It signaled the arrival of an autoimmune disease called alopecia areata.[dictionary.reference.com]
    • Rheumatoid arthritis , type I diabetes , psoriasis , alopecia , lupus , thyroid disease, Addison's disease , pernicious anemia , celiac disease , multiple sclerosis , myasthenia gravis , Guillain -Barre syndrome -- these are just a few of the ailments[webmd.com]
    • Signs of hypothyroidism include : Bilateral hair loss (alopecia) Thinning of the skin Lethargy Black pigmentation of the skin Scurf (dandruff) Lethargy Obesity Cold intolerance - seeks warm places to lie down Reproductive problems.[provet.co.uk]
  • more...
  • musculoskeletal
  • more...
  • respiratoric
  • more...
  • Workup

    The diagnosis can be done by physical exam and laboratory investigation. Important laboratory tests are antinuclear antibody tests, autoantibody tests, complete blood cound (CBC), comprehensive metabolic panel, C-reactive protein (CRP), Erythrocyte sedimentation rate (ESR) and urinalysis.

    Chest X-ray and pulmonary function test may be required in case of lung involvement. Similarly, bone marrow biopsy or kidney biopsy may be done if required.
    Kidney function test and renal function test may be required in advanced cases or the cases taking treatment for long period or for the cases like graft rejection [7].

    Test Results

    Skin Test
    Anergy
    • […] human immune system typically produces both T cells and B cells that are capable of being reactive with self- antigens , but these self-reactive cells are usually either killed prior to becoming active within the immune system, placed into a state of anergy[en.wikipedia.org]
  • more...
  • Treatment

    Symptomatic control, control of autoimmune reaction and maintainance of general immunity are the objectives of treatment. Mainstay of treatment is control of immune reaction by immunosuppressant drugs either corticosteroids like prednisone or non-steroids like tacrolimus, cyclophosphamide, sirolimus, mycophenolate or azathioprine. Further treatment depends on type of disease like hormones, hematinincs, blood transfusion or physiotherapy. Anaphylaxis is an emergency and requires prompt emergency services including oxygen, advanced life support measures, drugs like adrenaline [8].

    Prognosis

    Autoimmune diseases are chronic, characterized by remission and relapse or flare up. But clinical symptoms are well controlled by treatment [5].

    Complications

    Alopecia
    • But when her hair kept falling out, she went to a dermatologist, who diagnosed alopecia, a disease in which the immune system attacks the hair follicles.[prevention.com]
    • It signaled the arrival of an autoimmune disease called alopecia areata.[dictionary.reference.com]
    • Rheumatoid arthritis , type I diabetes , psoriasis , alopecia , lupus , thyroid disease, Addison's disease , pernicious anemia , celiac disease , multiple sclerosis , myasthenia gravis , Guillain -Barre syndrome -- these are just a few of the ailments[webmd.com]
    • Signs of hypothyroidism include : Bilateral hair loss (alopecia) Thinning of the skin Lethargy Black pigmentation of the skin Scurf (dandruff) Lethargy Obesity Cold intolerance - seeks warm places to lie down Reproductive problems.[provet.co.uk]
    Addison's Disease
    • Examples of autoimmune diseases include systemic lupus erythematosus, Sjogren syndrome, Hashimoto thyroiditis , rheumatoid arthritis , juvenile (type 1) diabetes , polymyositis , scleroderma , Addison disease, vitiligo , pernicious anemia , glomerulonephritis[medicinenet.com]
    • Addison’s disease Addison’s disease affects the adrenal glands, which produce the hormones cortisol and aldosterone.[healthline.com]
    • Diagnosis Diagnosis depends upon tests to identify the circulating antibodies, or antibody-antigen complexes that form and other tests specific to the organ involved ; Adrenal gland Adrenal insufficiency (Addisons disease) Indirect immunofluorescence[provet.co.uk]
    • Information on vasculitis is available on the ASCIA website www.allergy.org.au/patients/autoimmunity Examples of localised (organ specific) autoimmune diseases Addison’s disease (adrenal) Autoimmune hepatitis (liver) Coeliac disease (gastrointestinal[allergy.org.au]
    • Common autoimmune disorders include: Addison disease Celiac disease - sprue (gluten-sensitive enteropathy) Dermatomyositis Graves disease Hashimoto thyroiditis Multiple sclerosis Myasthenia gravis Pernicious anemia Reactive arthritis Rheumatoid arthritis[nlm.nih.gov]
    Uveitis
    • The black pigments of the nose, lips, eyelids, footpads, and anus fade to pink or white, and there is an acute uveitis (inflammation of the eyes) Early treatment may prevent blindness, but the pigment loss is usually permanent.[canismajor.com]
    Lambert Eaton Myasthenic Syndrome
    • […] cholangitis (PSC) Celiac disease Pernicious anemia Inflammatory bowel disease Neuromuscular system disorders affect nerves and muscles Chronic inflammatory demyelinating Polyradiculoneuropathy (CIDP) Acute inflammatory demyelinating polyneuropathy (AIDP) Lambert-Eaton[autoimmunediseaselist.com]
    Cryoglobulinemia
    • […] arteritis or Giant Cell arteritis (GCV) Takayasu’s Arteritis (TAK) Kawasaki disease (KD) Isolated vasculitis of the Central nervous system or CNS Vasculitis Thromboangiitis obliterans or Buerger's disease Sarcoidosis Graft-versus-host disease (GVHD) Cryoglobulinemia[autoimmunediseaselist.com]
    Hemoglobinuria
    • In 1904 this theory was challenged by the discovery of a substance in the serum of patients with paroxysmal cold hemoglobinuria that reacted with red blood cells. [25] References [ edit ] a b c d e f g h i j k l m n o p q r "Autoimmune diseases fact sheet[en.wikipedia.org]
    Paroxysmal Cold Hemoglobinuria
    • In 1904 this theory was challenged by the discovery of a substance in the serum of patients with paroxysmal cold hemoglobinuria that reacted with red blood cells. [25] References [ edit ] a b c d e f g h i j k l m n o p q r "Autoimmune diseases fact sheet[en.wikipedia.org]

    Etiology

    The reason that body fails to recognize between ‘self’ and ‘non-self ’may be immunologic, genetic or microbial. Mixed etiology may be possible. There is polyclonal activation of B-cells along with generation of self reacting B-Cells. This may be augmented by increased T helper cell activity. Genetic factors include increased expression of Class II HLA antigens on affected tissues. Infection with virus like Epstein–Barr virus (EBV) or bacteria like streptococcus and mycoplasma may trigger immune reaction against host tissue [2].

    Epidemiology

    In the United States autoimmune conditions are among the leading causes of death among women of young and middle-age. Incidence rates differ according to disease. Less than one case of systemic sclerosis is diagnosed per 100,000 person years whereas more than 20 cases of adult-onset rheumatoid arthritis are diagnosed per 100,000 person-years. Diseases like type I diabetes primarily occur in childhood and adolescence whereas myasthenia gravis or multiple sclerosis occurs in the mid-adult years. Rheumatoid arthritis, primary systemic vasculitis are diagnosed among older adults [3].

    Sex distribution
    Age distribution

    Pathophysiology

    Once autoantibodies are formed against own tissue there may be one of four actions, i.e. anaphylactic, cytotoxic, immune complex or cell mediated. Anaphylaxis is characterized by releasing histamine locally or generally. Examples are asthma, hay fever and serum sickness. Examples of cytotoxic reaction are autoimmune hemolytic anemia, transfusion reaction, erthrobalstosis foetalis, idiopathic thrombocytopenic purpura (ITP) and myasthenia gravis. Examples of immune complex reaction are farmer’s lung, glomerulonephritis, collagen disease, Goodpasture syndrome and arthritis. Cell mediate reactions are leprosy and graft rejection [4].

    Prevention

    Since etiology of autoimmunity is immune-genetic prevention of these diseases is not possible. Only conditions precipitated by bacterial or viral infections are preventable by control of these infections [9].

    Summary

    Autoimmunity is a condition in which immune system of the body fails to recognize between ‘self’ and ‘non-self ’ and reacts by formation of antibodies against own tissues.
    The condition maybe limited to one of the organ like in Goodpasture syndrome or may be may involve specific tissues of different organs like in systemic lupus erythematosus. Clinical symptoms depend on the type of tissue involved. Diagnosis is always done by the detection of autoantibodies against specific tissue and histopathology. Immunosuppressant drugs are important treating agent in these conditions [1].

    Patient Information

    • Definition: Autoimmunity is a condition in which immune system of the body fails to recognize between ‘self’ and ‘non-self ’ and reacts by formation of antibodies against own tissues. This condition may be limited to one of organ like in Goodpasture syndrome or maybe may involve specific tissues of different organs like in systemic lupus erythematosus. Clinical symptoms depend on type of tissue involved. Diagnosis is always done by detection of autoantibodies against specific tissue and histopathology. Immunosuppressant drugs are important treating agents in these conditions. Examples of the diseases are asthma, hay fever, serum sickness autoimmune hemolytic anemia and transfusion reaction, erthroblastosis fetalis, ITP, myasthenia gravis, farmer’s lung, glomerulonephritis, collagen disease, Goodpasture syndrome, arthritis, leprosy and graft rejection. Diseases like type I diabetes primarily occur in childhood and adolescence whereas myasthenia gravis, multiple sclerosis occurs in the mid-adult years. Rheumatoid arthritis and primary systemic vasculitis are diagnosed among older adults.
    • Symptoms: Symptoms depend on type of reaction due to autoimmunity and its site. The common symptoms are fatigue, fever, malaise, joint pain, and rash. Anaphylaxis is characterized by dizziness, rash, itching, breathless, increased heart rate, lip swelling. Autoimmunity against blood component is characterized by fatigue, yellow urine, and fever. Involvement of lung is characterized by cough, fever, breathlessness.
    • Diagnosis: The diagnosis can be done by physical exam and laboratory investigation including antinuclear antibody tests, autoantibody tests, complete blood count (CBC), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and urinalysis. Chest X-ray and pulmonary function test may be required in case of lung involvement. Similarly, bone marrow biopsy or kidney biopsy may be done if required. Kidney function test and renal function test may be required in advanced cases or cases taking treatment for long period or for a cases like graft rejection.
    • Treatment: Symptomatic control, control of autoimmune reaction and maintainance general immunity are the objectives of treatment. Mainstay of treatment is control of immune reaction by immunosuppressant drugs either corticosteroids like prednisone or non-steroids like tacrolimus, cyclophosphamide, sirolimus, mycophenolate or azathioprine. Further treatment depends on type of disease like hormones, hematinincs, blood transfusion, physiotherapy. Anaphylaxis is an emergency and requires prompt emergency services including oxygen, advanced life support measures, drugs like adrenaline. Since causes of autoimmunity are immune-genetic prevention of these diseases is not possible. Only conditions precipitated by bacterial or viral infections are preventable by control of these infections. Autoimmune diseases are chronic characterized by period of no symptom and flare up. But clinical symptoms are well controlled by treatment [10].

    Other symptoms

    Unresponsiveness
    • However, it is impossible to induce tolerance (immune unresponsiveness) to all aspects of an autoantigen.[en.wikipedia.org]
    Retinoid
    • "Autoimmune kidney disease and impaired engulfment of apoptotic cells in mice with macrophage peroxisome proliferator-activated receptor gamma or retinoid X receptor alpha deficiency".[en.wikipedia.org]
    Sympathetic Ophthalmia
    • In the eye, there is a syndrome called sympathetic ophthalmia , where following a penetrating injury to one eye, the other eye may go blind.[american-hearing.org]

    Self-assessment

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    References

    1. Rose NR. Predictors of autoimmune disease: autoantibodies and beyond. Autoimmunity 2008; 41:419.
    2. Drachman DB. How to recognize an antibody-mediated autoimmune disease: Criteria. In: Immunologic Mechanisms in Neurologic and Psychiatric Disease, Waksman BH (Ed), Raven, New York 1990. p.183.
    3. Hartmann RC, Conley CL. Studies on the initiation of blood coagulation, III. The clotting properties of canine platelet-free plasma. J Clin Invest 1952; 31:685.
    4. Swanborg RH. Experimental autoimmune encephalomyelitis in rodents as a model for human demyelinating disease. Clin Immunol Immunopathol 1995; 77:4.
    5. Horak I, Löhler J, Ma A, Smith KA. Interleukin-2 deficient mice: a new model to study autoimmunity and self-tolerance. Immunol Rev 1995; 148:35.
    6. Mackay IR, Leskovsek NV, Rose NR. Cell damage and autoimmunity: a critical appraisal. J Autoimmun 2008; 30:5.
    7. Pendergraft WF 3rd, Preston GA, Shah RR, et al. Autoimmunity is triggered by cPR-3(105-201), a protein complementary to human autoantigen proteinase-3. Nat Med 2004; 10:72.
    8. Lee YH, Rho YH, Choi SJ, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford) 2007; 46:49.
    9. Emmi L, Romagnani S. Role of Th1 and Th2 cells in autoimmunity. In: The Autoimmune Diseases, Rose NR, Mackay IR (Eds), Academic Press, San Diego 2006. p.83.
    10. Oppermann M, Fritzsche J, Weber-Schoendorfer C, et al. A(H1N1)v2009: a controlled observational prospective cohort study on vaccine safety in pregnancy. Vaccine 2012; 30:4445.

    • Alopecia areata is a T-lymphocyte mediated autoimmune disease: lesional human T-lymphocytes transfer alopecia areata to human skin grafts on SCID mice - A Gilhar, R Shalaginov, B Assy - Journal of Investigative , 1999 - nature.com
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains - J Aaltonen, P Björses, J Perheentupa - Nature , 1997 - nature.com
    • Autoimmune and chronic inflammatory disorders and risk of non-Hodgkin lymphoma by subtype - KE Smedby, H Hjalgrim, J Askling - Journal of the , 2006 - jnci.oxfordjournals.org
    • ‐reactivity between an HLA‐B27‐derived peptide and a retinal autoantigen peptide: a clue to major histocompatibility complex association with autoimmune disease - G Wildner, SR Thurau - European journal of immunology, 2005 - Wiley Online Library
    • A new mutation, gld, that produces lymphoproliferation and autoimmunity in C3H/HeJ mice. - JB Roths, ED Murphy, EM Eicher - The Journal of experimental , 1984 - jem.rupress.org
    • A possible autoimmune basis for Addison's disease in three siblings, one with idiopathic hypoparathyroidism, pernicious anemia and superficial moniliasis - W Hung, CJ Migeon, RH Parrott - New England Journal of , 1963 - Mass Medical Soc
    • An improved diagnostic assay for Lambert-Eaton myasthenic syndrome. - M Motomura, I Johnston, B Lang, A Vincent - Journal of Neurology, , 1995 - jnnp.bmj.com
    • As an additional extrahepatic localization of hepatitis C virus: Viral detection in gastric low‐grade lymphoma associated with autoimmune disease and in chronic - S De Vita, V De Re, D Sansonno, D Sorrentino - , 2003 - Wiley Online Library
    • Mice Develop Goodpasture's Syndrome upon Immunization with Type IV Collagen A Novel Murine Model for Autoimmune Glomerular Basement Membrane Disease - A Nakamura, T Yuasa, A Ujike, M Ono - The Journal of , 2000 - jem.rupress.org

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