Autoimmune Diseases Overview
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Questions and Answers

What is the classical triad of symptoms associated with Type 1 diabetes mellitus?

  • Increased thirst, increased urination, weight gain
  • Fatigue, muscle cramps, constipation
  • Increased thirst, increased urination, increased appetite (correct)
  • Increased appetite, fatigue, cold intolerance
  • Which symptom is most commonly associated with myasthenia gravis?

  • Skin rash
  • Numbness in extremities
  • Joint pain
  • Progressive muscle weakness (correct)
  • What is the most common cause of primary hypothyroidism in the USA?

  • Pituitary gland dysfunction
  • Thyroid cancer
  • Hashimoto’s thyroiditis (correct)
  • Iodine deficiency
  • Which lab result would indicate a diagnosis of diabetes mellitus?

    <p>Blood glucose &gt; 200 mg/dL two hours after 75 g oral glucose (B)</p> Signup and view all the answers

    What is a key complication of myasthenia gravis?

    <p>Myasthenic crisis (C)</p> Signup and view all the answers

    What are potential complications of untreated Type 1 diabetes mellitus?

    <p>Diabetic ketoacidosis, hypoglycemic coma, diabetic neuropathy (C)</p> Signup and view all the answers

    Which test can confirm myasthenia gravis by showing improvement in muscle strength?

    <p>Anticholinesterase test (D)</p> Signup and view all the answers

    What treatment is commonly prescribed for myasthenia gravis?

    <p>Anticholinesterase inhibitors (D)</p> Signup and view all the answers

    What is a typical consequence of chronic inflammation caused by Hashimoto's thyroiditis?

    <p>Initial goiter development leading to organ enlargement (D)</p> Signup and view all the answers

    In a myasthenic crisis, how does the patient's condition respond to edrophonium?

    <p>It temporarily improves weakness. (B)</p> Signup and view all the answers

    What distinguishes a cholinergic crisis from a myasthenic crisis?

    <p>Worsening with edrophonium (C)</p> Signup and view all the answers

    Goodpasture's syndrome is best described as having autoantibodies that are:

    <p>Destructive (B)</p> Signup and view all the answers

    Which clinical feature can be indicative of a cholinergic crisis?

    <p>Abdominal cramps and diarrhea (A)</p> Signup and view all the answers

    What is primarily responsible for the immune damage in autoimmune diseases?

    <p>Pathogenic antibodies or immune cells (D)</p> Signup and view all the answers

    Which of the following autoimmune diseases is characterized by the destruction of insulin-producing cells?

    <p>Type 1 Diabetes (D)</p> Signup and view all the answers

    What is a common demographic characteristic of autoimmune diseases?

    <p>Frequently affect young individuals (D)</p> Signup and view all the answers

    Which of the following is NOT a noted side effect of glucocorticoid treatment?

    <p>Severe allergic reactions (B)</p> Signup and view all the answers

    What is a significant financial impact of multiple sclerosis on individuals and the healthcare system?

    <p>$30,000 annually for medication (C)</p> Signup and view all the answers

    What factor typically does NOT contribute to the onset of autoimmune diseases?

    <p>Nutritional deficiencies (B)</p> Signup and view all the answers

    Which of the following is NOT a treatment for autoimmune diseases mentioned?

    <p>Beta-blockers (C)</p> Signup and view all the answers

    What is a common aspect of autoimmune diseases in relation to their longevity?

    <p>They are frequently chronic life-long diseases (B)</p> Signup and view all the answers

    Which HLA class is most strongly associated with Multiple Sclerosis?

    <p>HLA-DR2 (D)</p> Signup and view all the answers

    What is the primary environmental factor linked to autoimmune diseases?

    <p>Smoking (B)</p> Signup and view all the answers

    Which autoimmune disease is associated with HLA-DQ2?

    <p>Celiac disease (A)</p> Signup and view all the answers

    What role does the AIRE gene play in autoimmune diseases?

    <p>It regulates the presentation of self antigens. (D)</p> Signup and view all the answers

    Which of the following is a systemic autoimmune disease?

    <p>Systemic lupus erythematosus (C)</p> Signup and view all the answers

    Which infection is linked to the development of Guillain-Barre syndrome?

    <p>Campylobacter jejuni (B)</p> Signup and view all the answers

    What condition does Fas deficiency lead to?

    <p>Autoimmune lymphoproliferative syndrome (C)</p> Signup and view all the answers

    Which HLA class is commonly associated with Type 1 Diabetes?

    <p>HLA-DQ2 (A), HLA-DQ8 (D)</p> Signup and view all the answers

    What is a common clinical presentation symptom of systemic lupus erythematosus (SLE)?

    <p>Butterfly rash on the face (A)</p> Signup and view all the answers

    Which laboratory finding is commonly associated with SLE?

    <p>Antinuclear antibodies (ANA) (C)</p> Signup and view all the answers

    What distinguishes discoid lupus erythematosus from systemic lupus erythematosus?

    <p>Discoid lupus primarily involves skin (B)</p> Signup and view all the answers

    Which medication is considered a novel treatment for SLE?

    <p>Belimumab (C)</p> Signup and view all the answers

    Which autoimmune marker is specifically associated with renal impairment in SLE?

    <p>Anti-double stranded DNA antibodies (B)</p> Signup and view all the answers

    What are common complications for patients diagnosed with SLE?

    <p>Chronic kidney disease (C)</p> Signup and view all the answers

    What is a characteristic skin lesion seen in SLE?

    <p>Discoid lupus lesions (C)</p> Signup and view all the answers

    Which statement correctly describes the prognosis of patients with SLE in modern treatment settings?

    <p>90% of patients live more than 10 years. (C)</p> Signup and view all the answers

    Which antibody is specifically positive in SLE and is associated with the rim pattern?

    <p>Anti-dsDNA antibody (C)</p> Signup and view all the answers

    Which of the following is NOT a specific symptom of rheumatoid arthritis (RA)?

    <p>High fever above 102°F (C)</p> Signup and view all the answers

    What is the common result of rheumatoid arthritis on radiological imaging?

    <p>Joint erosion (B)</p> Signup and view all the answers

    Which classification of antibody is rheumatoid factor (RF)?

    <p>IgM, IgG, or IgA types (B)</p> Signup and view all the answers

    Which of the following is a nonspecific symptom of rheumatoid arthritis?

    <p>Malaise (C)</p> Signup and view all the answers

    What clinical condition is associated with swan neck deformity?

    <p>Rheumatoid arthritis (C)</p> Signup and view all the answers

    Which of the following treatments is commonly used for rheumatoid arthritis?

    <p>Anti-inflammatory drugs (D)</p> Signup and view all the answers

    What complication can occur in the lungs due to rheumatoid arthritis?

    <p>Fibrosis and pleuritis (D)</p> Signup and view all the answers

    Flashcards

    Autoimmune diseases

    Conditions where the immune system mistakenly attacks the body's own tissues.

    Examples of Autoimmune diseases

    Rheumatoid arthritis, multiple sclerosis, type 1 diabetes, Graves' disease, myasthenia gravis, are examples of conditions where the immune system erroneously targets the body's own tissues

    Cause of most autoimmune diseases

    Unknown in most cases.

    Mechanism of autoimmune disease damage

    Pathogenic antibodies or immune cells (T cells and others) are thought to cause damage.

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    Prevalence of autoimmune diseases

    Common, estimated affecting 8 million people in the US alone.

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    Autoimmune disease characteristics

    Often chronic; affect young people; more frequent in women. Frequently arise spontaneously or induced.

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    Treatment challenges for autoimmune diseases

    Treatments have side effects, often including immunosuppression or other strong effects.

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    Common autoimmune treatment (example)

    Glucocorticoids (e.g., Prednisolone) reduce immune activity but have significant side effects, including skin/muscle atrophy, high blood sugar and other issues.

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    Type 1 Diabetes Mellitus

    A chronic condition where the body doesn't produce enough insulin, leading to high blood sugar.

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    Diabetic Ketoacidosis

    A serious complication of diabetes where the body produces excess ketones, leading to potentially fatal complications like coma and death.

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    Hypothyroidism

    A condition where the thyroid gland doesn't produce enough thyroid hormones.

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    Hashimoto's Thyroiditis

    The most common cause of hypothyroidism in the USA, involving inflammation of the thyroid gland.

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    Diagnosis of Diabetes

    Testing blood glucose levels (fasting, after a meal or random measurement) and glucose tolerance tests, plus HbA1c values for long-term assessment.

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    HLA (MHC) role in autoimmunity

    HLA (MHC) is a major genetic factor strongly linked to autoimmune diseases.

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    HLA-DR2 and Multiple Sclerosis

    HLA-DR2 is a specific HLA variant linked to an increased risk of Multiple Sclerosis.

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    HLA subtypes in Rheumatoid Arthritis

    HLA-DR1 and DR4 are HLA subtypes tied to an increased chance of Rheumatoid Arthritis.

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    Celiac Disease and HLA-DQ2/DQ8

    HLA-DQ2 and HLA-DQ8 are HLA genes substantially associated with Celiac Disease.

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    Type 1 Diabetes and HLA-DQ2/DQ8

    HLA-DQ2 and HLA-DQ8 are HLA genetic factors linked with a higher likelihood of type 1 diabetes.

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    AIRE and Autoimmune Polyglandular Syndrome (APS)

    AIRE gene malfunction can lead to APS1 where the immune system wrongly attacks multiple organs due to improper self-antigen presentation

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    Organ-specific autoimmune diseases

    Autoimmune illnesses targeting particular tissues and organs

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    Systemic autoimmune diseases

    Widespread inflammation affecting the whole body, rather than just one organ

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    Myasthenia Gravis (MG) Symptoms

    Progressive muscle weakness, difficulty chewing, swallowing, speaking, vision problems (double vision, drooping eyelids), breathing difficulties, and body weakness. Muscle wasting may occur over time, and it's a remitting-relapsing disease. A serious complication is myasthenic crisis, respiratory failure.

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    Myasthenic Crisis

    A severe exacerbation of MG, leading to respiratory distress, dysphagia, and weakness. It often improves with anti-acetylcholinesterase inhibitors (e.g., edrophonium).

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    Cholinergic Crisis

    A condition with symptoms like abdominal cramps, diarrhea, nausea, and vomiting, worsened by anti-acetylcholinesterase inhibitors (e.g., edrophonium).

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    MG Diagnosis Tests

    Includes clinical evaluation, nerve stimulation tests, and anticholinesterase tests (e.g., edrophonium) that temporarily improve muscle weakness after injection. Thymoma (tumor in the chest) is found in about 15% of cases.

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    MG Treatment

    May include oral anticholinesterase inhibitors (e.g., pyridostigmine), plasmapheresis, thymectomy (surgical removal of the thymus gland), and immunosuppression.

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    Goodpasture's Syndrome

    An autoimmune disease causing bleeding in the lungs and kidneys, with destructive autoantibodies. May be present for years before detection.

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    Goodpasture's Syndrome Symptoms

    Characterized by extensive lung bleeding (hemoptysis), respiratory failure, and acute kidney failure, often leading to rapid deterioration and death.

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    Symptoms of MG

    Muscle weakness including drooping eyelids, double vision, speech difficulties, and swallowing problems.

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    What is Rheumatoid Arthritis (RA)?

    A systemic autoimmune disease that primarily affects the joints, but can also impact other tissues like the skin, heart, eyes, lungs, and kidneys.

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    What are the specific symptoms of RA?

    RA presents with morning stiffness lasting over 1 hour, painful swelling in small joints (hands and feet), subcutaneous nodules, symmetric arthritis, positive rheumatoid factor (RF), and joint erosion visible on X-ray.

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    What is Rheumatoid Factor (RF)?

    An antibody (usually IgM, IgG, or IgA) that targets the Fc portion of IgG antibodies. Its exact function is unclear.

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    What is the significance of high RF titer?

    A high concentration of RF in the blood often correlates with more severe RA disease.

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    What is Anti-Cyclic Citrullinated Peptide (anti-CCP) antibody?

    An antibody found in RA that targets a modified protein called citrullinated peptide. It's a highly specific marker for RA.

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    What is a Swan Neck Deformity?

    A condition in which the proximal interphalangeal joint (PIP) of the finger hyperextends, typically caused by RA.

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    What are the Nonspecific symptoms of RA?

    While specific symptoms like joint stiffness and swelling are hallmark signs of RA, nonspecific symptoms like fatigue, fever, muscle aches, and anemia can also occur.

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    What are the treatment options for RA?

    RA management involves medications to manage inflammation, physical therapy to maintain joint function, and rarely surgical interventions.

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    What is SLE?

    Systemic lupus erythematosus (SLE) is an autoimmune disease where the immune system attacks the body's own tissues. It often affects many organs, causing symptoms like fatigue, joint pain, butterfly rash, anemia, and kidney problems.

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    SLE Symptoms

    SLE symptoms include fatigue, joint pain (especially in the hands and feet), muscle aches, a butterfly-shaped rash across the face, skin lesions, anemia, frequent infections, kidney problems, and neurological issues.

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    Butterfly Rash

    The characteristic butterfly-shaped rash across the face is a key symptom of SLE that often occurs due to sun exposure.

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    SLE vs. Discoid Lupus

    Systemic lupus erythematosus (SLE) affects the whole body, while discoid lupus affects only the skin. Discoid lupus has a better prognosis than SLE.

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    SLE Diagnosis

    SLE is diagnosed based on a combination of clinical symptoms and laboratory tests. These include positive antinuclear antibodies (ANA), anti-double-stranded DNA antibodies (Anti-dsDNA), low complement levels, and impaired renal function.

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    Why is SLE serious?

    SLE can be life-threatening if left untreated. In the past, many SLE patients died within five years, but improved treatments have significantly improved survival rates.

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    Lupus Anticoagulant

    Antiphospholipid antibodies, including the lupus anticoagulant, can cause blood clotting problems in patients with SLE.

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    Study Notes

    Autoimmune Diseases

    • Autoimmune diseases occur when the immune system mistakenly attacks healthy tissues.
    • Several examples of autoimmune diseases include rheumatoid arthritis, multiple sclerosis, type 1 diabetes, Graves' disease, and myasthenia gravis.
    • The exact cause of many autoimmune diseases is unknown.
    • Pathogenic antibodies and immune cells (T cells) can cause or contribute to the immune system's damage.
    • Autoimmune diseases are common, affecting an estimated 8 million people in the US alone.
    • They often appear in young adults.
    • Mostly autoimmune diseases are chronic, impacting personal and economic well-being.
    • Treatments for autoimmune diseases exist, but they often carry side-effects.
    • Some autoimmune diseases can arise spontaneously while some can be induced by drugs or vaccines.
    • Currently, there is no cure for most autoimmune diseases.
    • Immune system-related diseases encompass various conditions.
    • Autoimmune diseases: Characterized by the immune system attacking self-tissues.
    • Hypersensitivity Disorders (allergies): Exaggerated or inappropriate immune responses to harmless substances.
    • Immunodeficiencies: Impaired immune function, increasing susceptibility to infections.
    • Neoplasia (leukemias, lymphomas, others): Cancerous growths involving immune cells.

    Autoimmune Diseases: Notable Facts

    • Autoimmune diseases are common, estimated 8 million people in the US alone.
    • They often affect young adults.
    • Most are chronic, long-lasting conditions.
    • Personal and economic burdens are often significant.
    • Current treatments often come with side-effects.
    • Often arise spontaneously, but sometimes induced by factors as drugs or certain vaccines.
    • For most cases, a cure does not exist.

    Current Treatments and Their Problems

    • Glucocorticoids (e.g., Prednisone): Widely used, but carry side effects such as high blood sugar, skin changes, muscle weakness, and bone thinning.
    • Immunosuppressants: Can curb the immune system but can increase risk of infections.
    • Mitoxantrone: Treats cancers, but also causes nausea, vomiting, hair loss, immunosuppression, and cardiomyopathy.
    • TNF inhibitors (e.g., remicade, Humira): Target TNF-alpha, reducing inflammation, but can cause T cell lymphomas, infections (including TB), and opportunistic infections.
    • Interferon beta: Reduces progression of symptoms, but often causes flu like symptoms.
    • Rituximab: Targets B cells, but carries a risk of cardiac arrest, acute renal failure, infections, and some cancers.
    • Tysabri (anti-VLA-4): Progressive multifocal leukoencephalopathy (PML).
    • Campath (Alemtuzumab): Autoimmune thyroiditis in addition to potential complications.
    • Fingolimod (FTY720): Skin cancer, hemorrhagic encephalitis

    Immunological Facts

    • The immune system is designed to respond to a vast array of antigens, including those from external infections.
    • Autoreactive B or T cells can exist in a healthy immune system.
    • Autoantibodies are sometimes found in healthy individuals without any apparent disease.
    • Some T or B cells have the potential to attack self-tissues.

    How Autoimmune Diseases Arise

    • Molecular mimicry: When immune cells mistake microbial proteins for self-tissue molecules and attack it.
    • Failure of regulatory mechanisms: The immune system fails to control and suppress inappropriate self-directed immune responses.
    • Access to "forbidden" sites: Immune cells may encounter self-antigens normally hidden from them and mount responses.

    Genetic Base for Autoimmune Diseases

    • HLA (MHC) class II genes are strongly linked to autoimmune diseases.
    • Specific HLA alleles (forms of the gene) are associated with particular autoimmune disorders such as Multiple Sclerosis, Rheumatoid Arthritis, Celiac Disease, and Type 1 Diabetes.

    Other Genes Playing a Role

    • AIRE (Autoimmune regulator): Failure to present self-antigens in the thymus. Leads to APS1 auto-immune polyglandular syndrome.
    • Foxp3 mutations: affect T regulatory cells—IPEX syndrome.
    • Fas/Fas mutations: affect T-cells – ALPS (autoimmune lymphoproliferative syndrome).
    • Other genes like TNF and TNF receptor genes influence the development or progression of autoimmune disorders.
    • CTLA-4 and IL-7R genes are also relevant.

    Environmental Factors

    • Certain infections are linked to some autoimmune disorders. (Campylobacter, Group A Streptococcus pyogenes, EBV, Coxsackie).
    • Gut microbiome: Could play an important role in autoimmune diseases.
    • Environmental factors, such as smoking, high salt intake, and obesity, could be associated with the development, or progression, of some autoimmune diseases.

    Classification of Autoimmune Diseases

    • Organ-specific: Antibodies or cells attack specific organs. Examples include Graves' disease, myasthenia gravis, and Goodpasture's syndrome.
    • Systemic: Affect multiple organs and tissues. The examples include Systemic Lupus Erythematosus (SLE) and Rheumatoid Arthritis (RA).

    Diagnosis

    • Specific diagnostic tests vary with the particular autoimmune disease.

    Graves' Disease (Basedow)

    • Autoimmune hyperthyroidism = an overactive thyroid gland.
    • Also known as diffuse toxic goiter or Basedow disease.

    Hypothalamic-Pituitary-Thyroid Axis

    • The HPT axis regulates thyroid hormone production.
    • Hypothalamus releases TRH.
    • TRH stimulates the pituitary to release TSH.
    • TSH stimulates the thyroid to release T3 & T4.

    Graves' Disease (Basedow's Disease)

    • Autoantibodies mimic TSH and stimulate excessive thyroid hormone production.
    • Symptoms include goiter, bulging eyes, heat intolerance, and weight loss.
    • Diagnosis includes elevated thyroid hormones, suppressed TSH, and thyroid-stimulating antibodies.
    • Treatment may include antithyroid drugs, surgery, or radioiodine therapy.

    Myasthenia Gravis (MG)

    • Blocking autoantibodies attack the acetylcholine receptors (AChR), preventing muscle contractions.
    • Symptoms include fatigue and progressive muscle weakness, often starting in the eyes and face.
    • Diagnosis involves tests to measure AChR. Also, testing for antibodies in blood.
    • Treatment options include acetylcholinesterase inhibitors and, sometimes, thymectomy.

    Clinical Picture: Myasthenia Gravis (MG)

    • Often shows progressive muscle weakness. Difficulty chewing, swallowing, talking (slurred speech), eye muscle weakness, and eyelid drooping.
    • Difficulty breathing; difficulty holding arms up.
    • Muscle wasting occurs after extended period.
    • Myasthenic crisis (respiratory failure) is a serious complication.
    • Diagnosis includes nerve stimulation tests and detection of antibodies in the blood.

    Goodpasture's Syndrome

    • Destructive autoantibodies attack the basement membranes of the lungs and kidneys.
    • Symptoms include coughing up blood (hemoptysis) and kidney problems (hematuria).
    • Diagnosis often involves kidney biopsy, and detecting anti-glomerular basement membrane (anti-GBM) antibodies in blood.
    • Treatment involves immunosuppressant drugs.

    Cell-Mediated Organ-Specific Autoimmune Diseases

    • Includes Insulin Dependent Diabetes Mellitus (IDDM, Type1 diabetes), Hashimoto's thyroiditis, and Multiple Sclerosis.

    Type 1 Diabetes Mellitus

    • Autoimmune destruction of pancreatic beta cells, leading to insulin deficiency.
    • Symptoms: Excessive thirst and urination, fatigue, and weight loss.
    • Diagnosis: Elevated blood glucose levels (fasting and random).
    • Treatment: Insulin therapy.

    Systemic Lupus Erythematosus (SLE)

    • Autoantibodies to DNA, RBC, histones. Autoimmune disease targeting multiple tissues and organs.
    • Frequently in females. Characteristic rash (butterfly rash).
    • Symptoms vary widely but often include fatigue, fever, joint pain, and kidney problems.
    • Diagnosis requires multiple criteria and a variety of laboratory tests.
    • Treatment involves corticosteroids and immunosuppressive drugs.

    Rheumatoid Arthritis (RA)

    • Chronic inflammatory disease primarily affecting synovial joints.
    • Hallmark symptoms: morning stiffness, pain, swelling, and tenderness in joints.
    • Often accompanied by systemic symptoms. Often in middle-aged adults
    • Diagnosis involves a combination of clinical evaluation, blood tests for rheumatoid factor and anti-cyclic citrullinated peptide (antic-CCP) and imaging.
    • Treatment: Often anti-inflammatory drugs, physical therapy, rarely surgery.

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    Description

    Explore the key characteristics of autoimmune diseases, their impact, and common examples such as rheumatoid arthritis and type 1 diabetes. This quiz will delve into the causes, effects, and current treatments available for these chronic conditions. Learn about the immune system's role in these diseases and the challenges they present.

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