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Questions and Answers
What is the classical triad of symptoms associated with Type 1 diabetes mellitus?
What is the classical triad of symptoms associated with Type 1 diabetes mellitus?
Which symptom is most commonly associated with myasthenia gravis?
Which symptom is most commonly associated with myasthenia gravis?
What is the most common cause of primary hypothyroidism in the USA?
What is the most common cause of primary hypothyroidism in the USA?
Which lab result would indicate a diagnosis of diabetes mellitus?
Which lab result would indicate a diagnosis of diabetes mellitus?
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What is a key complication of myasthenia gravis?
What is a key complication of myasthenia gravis?
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What are potential complications of untreated Type 1 diabetes mellitus?
What are potential complications of untreated Type 1 diabetes mellitus?
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Which test can confirm myasthenia gravis by showing improvement in muscle strength?
Which test can confirm myasthenia gravis by showing improvement in muscle strength?
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What treatment is commonly prescribed for myasthenia gravis?
What treatment is commonly prescribed for myasthenia gravis?
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What is a typical consequence of chronic inflammation caused by Hashimoto's thyroiditis?
What is a typical consequence of chronic inflammation caused by Hashimoto's thyroiditis?
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In a myasthenic crisis, how does the patient's condition respond to edrophonium?
In a myasthenic crisis, how does the patient's condition respond to edrophonium?
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What distinguishes a cholinergic crisis from a myasthenic crisis?
What distinguishes a cholinergic crisis from a myasthenic crisis?
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Goodpasture's syndrome is best described as having autoantibodies that are:
Goodpasture's syndrome is best described as having autoantibodies that are:
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Which clinical feature can be indicative of a cholinergic crisis?
Which clinical feature can be indicative of a cholinergic crisis?
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What is primarily responsible for the immune damage in autoimmune diseases?
What is primarily responsible for the immune damage in autoimmune diseases?
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Which of the following autoimmune diseases is characterized by the destruction of insulin-producing cells?
Which of the following autoimmune diseases is characterized by the destruction of insulin-producing cells?
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What is a common demographic characteristic of autoimmune diseases?
What is a common demographic characteristic of autoimmune diseases?
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Which of the following is NOT a noted side effect of glucocorticoid treatment?
Which of the following is NOT a noted side effect of glucocorticoid treatment?
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What is a significant financial impact of multiple sclerosis on individuals and the healthcare system?
What is a significant financial impact of multiple sclerosis on individuals and the healthcare system?
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What factor typically does NOT contribute to the onset of autoimmune diseases?
What factor typically does NOT contribute to the onset of autoimmune diseases?
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Which of the following is NOT a treatment for autoimmune diseases mentioned?
Which of the following is NOT a treatment for autoimmune diseases mentioned?
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What is a common aspect of autoimmune diseases in relation to their longevity?
What is a common aspect of autoimmune diseases in relation to their longevity?
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Which HLA class is most strongly associated with Multiple Sclerosis?
Which HLA class is most strongly associated with Multiple Sclerosis?
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What is the primary environmental factor linked to autoimmune diseases?
What is the primary environmental factor linked to autoimmune diseases?
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Which autoimmune disease is associated with HLA-DQ2?
Which autoimmune disease is associated with HLA-DQ2?
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What role does the AIRE gene play in autoimmune diseases?
What role does the AIRE gene play in autoimmune diseases?
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Which of the following is a systemic autoimmune disease?
Which of the following is a systemic autoimmune disease?
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Which infection is linked to the development of Guillain-Barre syndrome?
Which infection is linked to the development of Guillain-Barre syndrome?
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What condition does Fas deficiency lead to?
What condition does Fas deficiency lead to?
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Which HLA class is commonly associated with Type 1 Diabetes?
Which HLA class is commonly associated with Type 1 Diabetes?
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What is a common clinical presentation symptom of systemic lupus erythematosus (SLE)?
What is a common clinical presentation symptom of systemic lupus erythematosus (SLE)?
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Which laboratory finding is commonly associated with SLE?
Which laboratory finding is commonly associated with SLE?
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What distinguishes discoid lupus erythematosus from systemic lupus erythematosus?
What distinguishes discoid lupus erythematosus from systemic lupus erythematosus?
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Which medication is considered a novel treatment for SLE?
Which medication is considered a novel treatment for SLE?
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Which autoimmune marker is specifically associated with renal impairment in SLE?
Which autoimmune marker is specifically associated with renal impairment in SLE?
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What are common complications for patients diagnosed with SLE?
What are common complications for patients diagnosed with SLE?
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What is a characteristic skin lesion seen in SLE?
What is a characteristic skin lesion seen in SLE?
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Which statement correctly describes the prognosis of patients with SLE in modern treatment settings?
Which statement correctly describes the prognosis of patients with SLE in modern treatment settings?
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Which antibody is specifically positive in SLE and is associated with the rim pattern?
Which antibody is specifically positive in SLE and is associated with the rim pattern?
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Which of the following is NOT a specific symptom of rheumatoid arthritis (RA)?
Which of the following is NOT a specific symptom of rheumatoid arthritis (RA)?
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What is the common result of rheumatoid arthritis on radiological imaging?
What is the common result of rheumatoid arthritis on radiological imaging?
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Which classification of antibody is rheumatoid factor (RF)?
Which classification of antibody is rheumatoid factor (RF)?
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Which of the following is a nonspecific symptom of rheumatoid arthritis?
Which of the following is a nonspecific symptom of rheumatoid arthritis?
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What clinical condition is associated with swan neck deformity?
What clinical condition is associated with swan neck deformity?
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Which of the following treatments is commonly used for rheumatoid arthritis?
Which of the following treatments is commonly used for rheumatoid arthritis?
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What complication can occur in the lungs due to rheumatoid arthritis?
What complication can occur in the lungs due to rheumatoid arthritis?
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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
- 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.
