Autoimmune Diseases Overview
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Questions and Answers

What primarily causes autoimmune diseases?

  • Genetic mutations in immune cells
  • Environmental toxins triggering immune responses
  • Infection from viruses
  • Erroneous attack of the immune system on self-tissues (correct)

Which of the following autoimmune diseases is characterized by muscle weakness?

  • Multiple sclerosis
  • Graves Disease
  • Myasthenia gravis (correct)
  • Rheumatoid arthritis

What demographic is most frequently affected by autoimmune diseases?

  • Young women (correct)
  • Infants and toddlers
  • Middle-aged individuals
  • Elderly men

Which of the following statements about treatments for autoimmune diseases is true?

<p>Treatment options generally have side effects. (C)</p> Signup and view all the answers

Which of the following is estimated to be the annual cost associated with Multiple Sclerosis treatment?

<p>$30,000/year (A)</p> Signup and view all the answers

What common factor is believed to contribute to the development of autoimmune diseases?

<p>Genetic predisposition combined with environmental triggers (A)</p> Signup and view all the answers

What is a potential side effect of glucocorticoids like Prednisolone?

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

Which of the following autoimmune diseases is NOT typically chronic?

<p>Acute allergic reaction (D)</p> Signup and view all the answers

Which HLA type is associated with Multiple Sclerosis?

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

Which gene is associated with Autoimmune Polyglandular Syndrome?

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

What is the common environmental factor linked to autoimmune diseases?

<p>High salt diet (D)</p> Signup and view all the answers

Which autoimmune disease is most commonly associated with the HLA-DQ2 type?

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

What type of autoimmune disease is Multiple Sclerosis classified as?

<p>Cell-mediated organ-specific disease (B)</p> Signup and view all the answers

Which infection is linked to Guillain-Barre Syndrome?

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

What role does the gut microbiome play in autoimmune diseases?

<p>It is linked to the development of autoimmune diseases. (D)</p> Signup and view all the answers

Which mutation is associated with the IPEX syndrome in humans?

<p>Foxp3 (C)</p> Signup and view all the answers

What type of autoantibodies are involved in Graves' disease?

<p>Stimulating autoantibodies (A)</p> Signup and view all the answers

What is the ratio of T4 to T3 released in the blood?

<p>20 to 1 (B)</p> Signup and view all the answers

Which of the following symptoms is NOT typically associated with hyperthyroidism due to Graves' disease?

<p>Progressive muscle weakness (B)</p> Signup and view all the answers

What triggers the hypothalamus to release TRH in the HPT axis?

<p>Low levels of T4 (B)</p> Signup and view all the answers

What condition can lead to a thyroid storm, a dangerous crisis for those with Graves' disease?

<p>Emotional stress or infection (C)</p> Signup and view all the answers

What characterizes the autoantibodies associated with Myasthenia gravis?

<p>Blocking antibodies against acetylcholine receptors (A)</p> Signup and view all the answers

Which treatment is NOT commonly used for Graves' disease?

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

What is a primary role of TSH in the HPT axis?

<p>To stimulate the thyroid gland to produce T3 and T4 (A)</p> Signup and view all the answers

What is a key complication of myasthenia gravis that can lead to respiratory failure?

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

Which test is used to determine the improvement of muscle weakness after medication in myasthenia gravis?

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

Which medication is primarily used as an oral treatment for myasthenia gravis?

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

In a cholinergic crisis, which symptom indicates an exacerbation due to excess anticholinesterase medication?

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

What is the hallmark feature of Goodpasture’s syndrome?

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

What symptom is commonly associated with myasthenic crisis that poses a risk for aspiration?

<p>Inability to cough (C)</p> Signup and view all the answers

What critical condition occurs due to insufficient medication in myasthenia gravis?

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

Which of the following is NOT a typical clinical sign observed in myasthenic crisis?

<p>Rapid heart rate (C)</p> Signup and view all the answers

What are the classical symptoms of Type 1 diabetes mellitus?

<p>Increased thirst, increased urination, and loss of weight (B)</p> Signup and view all the answers

What is the most common cause of primary hypothyroidism in the USA?

<p>Hashimoto's thyroiditis (A)</p> Signup and view all the answers

Which test indicates the presence of glucose in the blood for diagnosing diabetes?

<p>Fasting glucose &gt; 125 mg/dL (A)</p> Signup and view all the answers

What are some potential complications of untreated Type 1 diabetes mellitus?

<p>Coma and small/large vascular disease (A)</p> Signup and view all the answers

What characteristic is commonly observed in Hashimoto's thyroiditis?

<p>Inflammation and infiltration of the thyroid by immune cells (B)</p> Signup and view all the answers

Which symptom is common to both Goodpasture’s Syndrome and Type 1 diabetes mellitus?

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

What is the primary method used to diagnose Goodpasture’s Syndrome?

<p>Kidney biopsy (D)</p> Signup and view all the answers

What type of autoimmune reaction primarily causes Type 1 diabetes mellitus?

<p>T lymphocyte mediated attack (A)</p> Signup and view all the answers

What is a notable metabolic consequence of untreated Type 1 diabetes mellitus?

<p>Acidosis due to ketone bodies (C)</p> Signup and view all the answers

Which of the following tests would you expect to find positive in a patient with Goodpasture’s Syndrome?

<p>Anti-glomerular basement membrane antibodies (D)</p> Signup and view all the answers

What odor might be associated with a child experiencing hyperglycemia and dehydration due to Type 1 diabetes?

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

Which of these treatments is commonly used for Goodpasture’s Syndrome?

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

What is one of the consequences of high blood glucose levels in Type 1 diabetes?

<p>Increased urine output (D)</p> Signup and view all the answers

Flashcards

Autoimmune diseases definition

Immune system mistakenly attacks the body's own tissues.

Common autoimmune diseases example

Rheumatoid arthritis, multiple sclerosis, type 1 diabetes, graves disease, myasthenia gravis.

Cause of autoimmune diseases

Unknown for most, but believed to be related to pathogenic immune cells and antibodies.

Prevalence of autoimmune diseases

Very common, affecting many, frequently young individuals and women in the US.

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Treatment for autoimmune diseases side effects

Treatments often have negative side effects like immunosuppression, hormonal changes, nausea, etc.

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Corticosteroids use in autoimmune diseases

Example: Prednisolone. Used to suppress the immune system, but may lead to several unwanted outcomes.

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Mitoxantrone use in autoimmune diseases

Cancer drug used less often for autoimmune diseases, it also has serious side effects like cardiomyopathy.

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TNF inhibitors, and their use

Another treatment to moderate the immune response but has unwanted side effects.

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HLA (MHC) in autoimmune disease

HLA (MHC) molecules are strongly linked to autoimmune diseases, presenting antigens to immune cells, triggering immune responses.

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MHC Class II and antigens

MHC class II molecules present antigens to T cells, a key step in triggering an immune response.

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Multiple Sclerosis (MS) and HLA-DR2

HLA-DR2 is a major genetic factor linked with MS, indicating a predisposition to the disease via specific antigen presentation.

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Autoimmune diseases: Environmental factors

Certain infections (e.g. Campylobacter jejuni or EBV) and the gut microbiome are hypothesized to contribute to autoimmune diseases.

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Organ-specific autoimmune diseases

These diseases target specific organs and tissues in the body.

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Systemic autoimmune diseases

These diseases affect many tissues and organs throughout the body.

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AIRE gene and APS1

AIRE gene failure in the thymus leads to Autoimmune Polyglandular Syndrome type 1 (APS1), which is caused by insufficient removal of self-reactive Thymus cells.

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Genetic factors in Autoimmune Disease

Genes play a crucial role in autoimmune diseases, some regulating immune cell activity or self-antigen presentation

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Myasthenia gravis (MG)

A chronic autoimmune disease where the immune system attacks the neuromuscular junction, leading to muscle weakness.

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MG Symptoms

Progressive muscle weakness, difficulty swallowing, talking, breathing, drooping eyelids, double vision, and weakness in limbs.

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MG Diagnosis

Based on clinical picture, nerve stimulation tests, edrophonium test, and chest CT for thymoma.

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Myasthenic Crisis

A severe exacerbation of MG, leading to respiratory failure due to inadequate medication.

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Cholinergic Crisis

A complication of MG caused by too much medication, leading to abdominal cramps, diarrhea, nausea, and worsening symptoms.

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Goodpasture's Syndrome

An autoimmune disease where antibodies attack the lungs and kidneys, leading to bleeding and kidney failure.

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Goodpasture's Syndrome Symptoms

Severe hemoptysis (coughing up blood), respiratory failure, and acute renal failure.

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Goodpasture's Syndrome Cause

Autoantibodies mistakenly attack the basement membranes of the lungs and kidneys.

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Graves' disease

An autoimmune hyperthyroid condition where the immune system produces antibodies that stimulate the thyroid gland, resulting in excessive thyroid hormone production.

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T4

Thyroxine, the main thyroid hormone produced by the thyroid gland. It's converted to T3, the more active form, in the body.

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T3

Triiodothyronine, the active form of thyroid hormone responsible for regulating metabolism and other vital functions.

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HPT axis

The hypothalamic-pituitary-thyroid axis regulates thyroid hormone levels. Hypothalamus releases TRH, stimulating the pituitary to release TSH, which in turn stimulates thyroid hormone production.

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Thyroid storm

A life-threatening condition in Graves' disease characterized by extremely elevated thyroid hormone levels, causing high fever, rapid heartbeat, extreme restlessness, and potential organ failure.

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Myasthenia gravis

An autoimmune disorder where antibodies block acetylcholine receptors at neuromuscular junctions, causing muscle weakness and fatigue.

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How is Graves' disease diagnosed?

Elevated levels of T4 and T3, suppressed TSH levels, and the presence of thyroid-stimulating antibodies are key indicators.

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How is Myasthenia gravis diagnosed?

Detection of autoantibodies against acetylcholine receptors confirms the diagnosis. Muscle weakness and fatigue are also key symptoms.

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Anti-glomerular basement membrane antibodies (anti-GMB antibodies)

Autoantibodies that target the basement membrane of the glomeruli in the kidneys, playing a key role in Goodpasture's Syndrome.

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Diagnosis of Goodpasture's Syndrome

Diagnosis involves a kidney biopsy to examine the tissue and testing for anti-GMB antibodies and anti-alveolar antibodies.

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Treatment for Goodpasture's Syndrome

Immunosuppressive drugs like corticosteroids and cyclosporine are used to suppress the immune system and reduce inflammation.

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Type 1 Diabetes Mellitus

An autoimmune disease where the body's immune system destroys insulin-producing cells in the pancreas, leading to a lack of insulin and high blood sugar.

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Insulin's Role

Insulin is a hormone that helps regulate glucose uptake into cells, ensuring proper energy utilization.

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Complications of Type 1 Diabetes

Without insulin, the body produces ketones from fatty acids, which can lead to acidosis, dehydration, and other complications.

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Diagnosis of Type 1 Diabetes

High blood glucose levels, frequent urination, excessive thirst, fatigue, and ketone bodies in the urine are indicative of Type 1 Diabetes.

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Type 1 Diabetes Triad

The classic symptoms of Type 1 Diabetes are increased thirst (polydipsia), increased urination (polyuria), and increased appetite (polyphagia) despite weight loss.

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Type 1 Diabetes Diagnosis

Type 1 Diabetes is diagnosed by elevated blood and urine glucose levels, usually above 125 mg/dL fasting, 200 mg/dL two hours after glucose load, or 200 mg/dL randomly.

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Type 1 Diabetes Complications

Untreated Type 1 Diabetes leads to serious complications such as diabetic ketoacidosis, hypoglycemic coma, and death, as well as vascular damage to the eyes, nerves, kidneys, heart, and limbs.

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Hashimoto's Thyroiditis

Hashimoto's Thyroiditis is an autoimmune condition where T-cells and macrophages attack the thyroid gland, leading to inflammation and eventually hypothyroidism.

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Hashimoto's Thyroiditis Presentation

Hashimoto's Thyroiditis typically presents with goiter (thyroid enlargement), signs of hypothyroidism (fatigue, weight gain, etc.), and sometimes pain. It can ultimately lead to hypothyroidism.

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Study Notes

Autoimmune Diseases

  • Autoimmune diseases occur when the immune system mistakenly attacks the body's own tissues.
  • Important examples include rheumatoid arthritis, multiple sclerosis, type 1 diabetes, Graves' disease, and myasthenia gravis.
  • The exact cause of many autoimmune diseases is unknown.
  • It is believed that pathogenic antibodies or immune cells (like T cells) cause or contribute to tissue damage.
  • Autoimmune diseases are common, affecting an estimated 8 million people in the US alone.
  • They often affect young adults.
  • Most autoimmune diseases are chronic.
  • There is currently no cure for most autoimmune diseases, but treatments exist that can manage symptoms.
  • Autoimmune diseases represent a category of immune system-related disorders, along with hypersensitivity disorders (allergies) and immunodeficiencies.
  • Neoplasia (like leukemia, lymphoma) is also considered an immune system-related condition.

Classification of Autoimmune Diseases

  • Organ-specific diseases affect specific organs or tissues.
    • Antibody-mediated: Graves' disease, myasthenia gravis, Goodpasture's syndrome.
    • Cell-mediated: multiple sclerosis, type 1 diabetes.
  • Systemic diseases affect multiple organ systems.
    • Systemic lupus erythematosus
    • Rheumatoid arthritis

Graves' Disease (Basedow)

  • Also known as diffuse toxic goiter.
  • An autoimmune disorder causing overactive thyroid function.
  • Characterized by autoimmune-induced thyroid gland overactivity.

Myasthenia Gravis (MG)

  • An autoimmune disease that impacts neuromuscular junctions.
  • Autoantibodies against acetylcholine receptors block muscle activation.
  • This leads to progressive muscle weakness.

Goodpasture's Syndrome

  • Autoimmune disease leading to lung and kidney damage.
  • Destructive autoantibodies are a key feature.
  • Often presents with symptoms like hemoptysis (coughing up blood) and kidney problems.

Type 1 Diabetes Mellitus (IDDM)

  • Autoimmune attack on the insulin-producing cells in the pancreas (Islets of Langerhans).
  • Insulin is critical for regulating blood glucose.
  • Lack of insulin results in high blood sugar (hyperglycemia).
  • Classic symptoms include excessive urination, thirst, and increased appetite.
  • Diagnosis can involve blood tests to measure glucose and insulin levels.
  • Treatment primarily involves insulin administration.

Hashimoto's Thyroiditis

  • An autoimmune disease causing hypothyroidism (underactive thyroid).
  • Characterized by inflammation and infiltration of the thyroid gland.
  • Leads to reduced thyroid hormone production.

Multiple Sclerosis (MS)

  • A chronic, autoimmune disease affecting the central nervous system (CNS).
  • Characterized by demyelination (damage to nerve sheaths).
  • Symptoms can vary significantly and include neurologic deficits.
  • Forms of MS include relapsing-remitting and progressive.

Systemic Lupus Erythematosus (SLE)

  • A chronic, multisystem autoimmune disorder.
  • Characterized by widespread inflammation and immune complex formation.
  • Symptoms can range from fatigue and joint pain to skin rashes, kidney problems, and neurological symptoms.
  • Clinical picture often includes butterfly rash, photosensitivity, and joint pain.

Rheumatoid Arthritis (RA)

  • A chronic inflammatory autoimmune disease primarily affecting the joints.
  • Characterized by chronic inflammation in the synovial membrane.
  • Often leads to joint pain, stiffness, and swelling.
  • Potential for systemic involvement.
  • Diagnosis often involves antibody testing and examination of joint inflammation.

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