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Questions and Answers
What test is most commonly associated with diagnosing rheumatoid arthritis?
Which antibodies are specifically linked to Lupus?
If a patient tests positive for ANA, which of the following tests should be ordered next?
Which condition is associated with the HLA-B27 marker?
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The presence of anti-double stranded DNA antibodies is specific to which autoimmune condition?
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ESR/CRP are useful in diagnosing which type of disorders?
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Which of the following diseases is NOT associated with anti-neutrophil cytoplasmic antibodies (ANCA)?
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Which autoimmune disorder is linked to the presence of anti-Jo antibodies?
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What is the recommended frequency for annual screening for hydroxychloroquine retinopathy in patients without maculopathy or major risk factors?
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Which of the following is NOT listed as an effective primary testing method for hydroxychloroquine retinopathy?
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What age criteria is required for diagnosing Giant Cell Arteritis (GCA)?
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Which of the following is a sign of Arteritic Anterior Ischemic Optic Neuropathy (AAION)?
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What is typically the first-line treatment for Giant Cell Arteritis?
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Which of the following findings is characteristic of a temporal artery biopsy in diagnosing GCA?
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What is the ocular staining score required for a positive diagnosis of Sjögren’s Syndrome?
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In terms of Schirmer’s Test for diagnosing Sjögren’s Syndrome, what score is indicative of the condition?
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What is a common systemic complication associated with Rheumatoid Arthritis (RA)?
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Which ocular effect is more prevalent in patients with Systemic Lupus Erythematosus (SLE)?
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Study Notes
Autoimmune Disorders
- Autoimmune disorders occur when the body's immune system attacks its own tissues.
- Diagnosing autoimmune disorders often involves laboratory tests to identify specific antibodies or markers.
Laboratory Tests for Autoimmune Disorders
- Rheumatoid Factor (RF): Associated with Rheumatoid Arthritis (RA) and other illnesses such as Sjogren's Syndrome, Lupus, Connective Tissue Disorders, TB, Syphilis, and Hematologic malignancies.
- Anti-citrullinated protein antibodies (ACPAs or anti-CCPs): Primarily associated with RA, but also found in Sjogren's Syndrome, Psoriatic Arthritis, and Leukemia.
- Antinuclear antibodies (ANAs): A hallmark of Lupus, also found in Scleroderma, Sjogren's Syndrome, Connective Tissue Disorders, TB, Syphilis, Cancer, Grave's Disease, Inflammatory Bowel Disease (IBD), and Myositis.
- Anti-double stranded DNA antibodies (anti-dsDNA): Highly specific for Lupus.
- Anti-neutrophil cytoplasmic antibody (ANCA): Strongly linked to Wegener's granulomatosis and other vasculitides.
- Erythrocyte Sedimentation Rate (ESR) and C-reactive protein (CRP): Elevated in Giant Cell Arteritis (GCA) and other autoimmune conditions.
- HLA-B27: Associated with Ankylosing Spondylitis and numerous other autoimmune conditions.
Testing for Positive ANA
- Anti-SSA/SSB antibodies: Associated with Sjogren's Syndrome and Lupus.
- Anti-Smith Antibodies: Specific for Lupus.
- Anti-ribonuclearprotein (RNP) antibodies: Associated with Lupus and connective tissue disorders.
- Anti-Scl antibodies: Associated with Scleroderma.
- Anti-Jo antibodies: Tied to Inflammatory Myositis.
Treatment of Autoimmune Disorders
- Hydroxychloroquine: A commonly used medication for autoimmune diseases, but can cause retinopathy.
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Hydroxychloroquine Retinopathy Testing Guidelines:
- Baseline exam within 1 year of starting the medication.
- Annual screening after 5 years unless maculopathy or major risk factors are present.
- More frequent screening if major risk factors are present.
- Primary Testing: Automated visual fields, OCT of the macula, and dilated fundus exam.
- Adjunctive Testing: Multifocal ERG and fundus autofluorescence.
- Ineffective Testing: Fluorescein angiography (FA), full-field ERG, EOG, Amsler grid, and color vision testing.
Giant Cell Arteritis (GCA)
- Affects the temporal artery, a blood vessel in the head.
- Symptoms: new headache, temporal artery tenderness, decreased pulsation, and elevated ESR.
- Diagnostic criteria: age over 50, new headache, temporal artery abnormalities, ESR of ≥ 50 mm/hr, and abnormal temporal artery biopsy results.
Arteritic Anterior Ischemic Optic Neuropathy (AAION)
- Can cause sudden vision loss.
- Characterized by peripheral visual field loss.
AAION and GCA Management
- Treatment with steroids: 40-80 mg oral steroids daily or 1 gram IV steroids for three days.
- Temporal artery biopsy within two weeks of starting treatment.
- Close monitoring of ESR/CRP levels.
- Consider biologics or disease-modifying antirheumatic drugs (DMARDs) for patients who cannot tolerate long-term steroid use.
- Address any treatment-related complications.
- Continued monitoring by primary care, rheumatology, and/or neuro-ophthalmology.
Systemic Lupus Erythematosus (SLE)
- A chronic autoimmune disease that affects multiple organs.
- Diagnosis involves meeting the criteria for Systemic Lupus Erythematosus.
Lupus Diagnostic Criteria
- Can include a combination of symptoms like malar rash, discoid rash, photosensitivity, oral ulcers, arthritis, serositis, renal disorders, neurological disorders, hematologic disorders, immunologic disorders, antinuclear antibody presence.
Other Systemic Lupus Complications
- Lupus can cause a range of complications, including kidney problems, heart disease, and neurological disorders.
Lupus Management
- Treatment aims to manage symptoms, prevent complications, and improve quality of life.
- Treatment might include corticosteroids, immunosuppressants, and other medications.
Ocular effects of Lupus
- Can involve various eye problems, including retinopathy, scleritis, and optic neuropathy.
Lupus Retinopathy
- Often involves cotton-wool spots.
Rheumatoid Arthritis (RA)
- An autoimmune disease characterized by chronic inflammation of the joints.
- Diagnosis involves meeting the criteria for RA.
RA Diagnostic Criteria
- Can include: morning stiffness, swelling of three or more joints, swelling specifically of wrist, PIPs (proximal interphalangeal) or MCPs (metacarpophalangeal), symmetrical joint swelling, rheumatoid nodules, positive rheumatoid factor (RF), or positive anti-CCP antibodies.
Systemic Complications of RA
- RA can affect other organs and systems beyond the joints.
Ocular Effects of RA
- Ocular complications of RA include episcleritis, scleritis, and keratoconjunctivitis sicca (dry eye).
Sjogren's Syndrome (SS)
- An autoimmune disorder that affects the salivary and lacrimal glands, leading to dry eyes and dry mouth.
- Symptoms include dry eyes, dry mouth, fatigue, joint pain, muscle aches, and swelling.
SS Signs
- Dry eyes.
- Dry mouth.
- Joint pain.
- Fatigue.
- Salivary gland swelling.
SS Diagnostic Criteria
- Need 4 or more points to confirm a diagnosis.
- Positive Anti-Ro/SSA antibodies: 3 points.
- Lip Biopsy with Focus: > 1 foci/4mm^2 (3 points).
- Ocular Staining Score ≥ 5: 1 point.
- Schirmer's Test (without anesthetic): ≤ 5mm/5min (1 point).
- Unstimulated Salivary Flow Rate: ≤ 0.1 mL/min (1 point).
SS Management
- Treatment aims to manage symptoms and improve quality of life.
- Treatments might include artificial tears for dry eyes, oral or topical saliva substitutes, and medications to decrease inflammation.
Spondyloarthropathies
- A group of inflammatory diseases primarily affecting the spine and the sacroiliac joints.
- Characterized by inflammation of the spine, sacroiliac joints, and tendons.
- Often associated with the HLA-B27 gene.
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Description
This quiz covers the essential aspects of autoimmune disorders and their diagnosis through laboratory tests. You will explore specific antibodies and markers associated with various conditions such as Rheumatoid Arthritis and Lupus. Test your knowledge on the various laboratory tests utilized in identifying these disorders.
