ILD Autoimmune Maxi

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Autoimmune antibodies related to ILD.

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ILD Autoimmune Maxi Test Information Guide

Why is it done?
- Comprehensive screening for autoimmune causes of interstitial lung disease (ILD) by detecting multiple autoantibodies associated with connective tissue diseases and systemic autoimmune conditions
- Diagnosis of autoimmune-associated pulmonary fibrosis including systemic sclerosis (SSc), polymyositis/dermatomyositis (PM/DM), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and mixed connective tissue disease (MCTD)
- Evaluation of patients presenting with progressive dyspnea, cough, and pulmonary infiltrates with suspected underlying autoimmune etiology
- Detection of disease-specific autoantibodies including ANA, anti-centromere, anti-SCL-70 (Scl-70), anti-RNA polymerase III, anti-Ro/SSA, anti-La/SSB, anti-Smith (Sm), anti-U1-RNP, anti-Jo-1, anti-PL-7, anti-EJ, anti-OJ, anti-Ku, anti-Mi-2, anti-SRP, and anti-PM-Scl antibodies
- Performed during initial pulmonary evaluation, before or after diagnosis of ILD, and in patients with clinical features suggestive of autoimmune disease (arthralgia, Raynaud's phenomenon, skin changes, myositis)
- Risk stratification and prognostication in ILD patients, as certain autoantibodies correlate with disease progression and outcomes
Normal Range
- Negative/Normal Results: Absence of detectable autoantibodies in all tested parameters indicates negative autoimmune panel
- ANA (Antinuclear Antibody): Negative or titer <1:80 (normal); titers ≥1:80 considered positive with further reflex testing
- Specific Autoantibodies: Reported as Negative or Positive with numerical values (Index: <1.0 negative, ≥1.0 positive) or Positive/Negative by immunoblot
- Units of Measurement: Results expressed as Index Units (IU), Optical Density (OD), or semiquantitative titers depending on methodology
- Interpretation of Normal: Negative results suggest ILD is likely not autoimmune in etiology; however, does not exclude autoimmune disease as some patients may be seronegative
- Interpretation of Abnormal: One or more positive autoantibodies indicate underlying autoimmune disease; multiple positive antibodies increase specificity for diagnosis and help classify disease subtype
Interpretation
- Positive ANA (≥1:80): Suggests underlying connective tissue disease; requires reflex to specific autoantibody testing (Anti-centromere, Anti-Scl-70, anti-Smith, anti-U1-RNP, anti-Ro/SSA, anti-La/SSB) for disease classification and confirmation
- Positive Anti-Centromere: Highly specific for limited cutaneous systemic sclerosis (lcSSc); associated with relatively better prognosis but still requires monitoring for pulmonary complications
- Positive Anti-Scl-70 (Topoisomerase-I): Highly specific for diffuse cutaneous systemic sclerosis (dcSSc); strong predictor of ILD development and progression; associated with increased risk of pulmonary fibrosis and lung involvement
- Positive Anti-RNA Polymerase III: Associated with systemic sclerosis with renal crisis and early dcSSc; increased risk of severe ILD and pulmonary hypertension
- Positive Anti-Jo-1 (Histidyl-tRNA Synthetase): Indicates myositis-associated ILD; present in 20-30% of PM/DM patients; strongly associated with anti-synthetase syndrome with arthritis, Raynaud's phenomenon, mechanic's hands, and ILD
- Positive Anti-PL-7, Anti-EJ, or Other Aminoacyl-tRNA Synthetase (ARS) Antibodies: Associated with anti-synthetase syndrome; often present without myositis ('seronegative myositis'); frequently accompanied by ILD as primary manifestation
- Positive Anti-Smith or Anti-U1-RNP: Specific for systemic lupus erythematosus or MCTD; anti-Smith highly specific for SLE; associated with ILD in 3-13% of SLE patients
- Positive Anti-Ro/SSA or Anti-La/SSB: Associated with Sjögren syndrome, SLE, and neonatal lupus; less commonly associated with ILD but can occur in overlap syndromes
- Positive Anti-SRP or Anti-PM-Scl: Indicate necrotizing myopathy or overlap myositis-scleroderma; associated with ILD and increased risk of malignancy
- Multiple Positive Autoantibodies: Increase diagnostic specificity and often indicate overlap syndromes or more aggressive disease; associated with worse prognosis and increased mortality
- Negative Panel Despite Clinical Suspicion: Does not exclude autoimmune ILD; seronegative disease occurs in 10-20% of autoimmune ILD; clinical features, imaging, and bronchoscopy findings essential for diagnosis
- Factors Affecting Results: Timing of testing relative to disease onset, immunosuppressive therapy use, disease activity level, specimen handling, and laboratory methodology all influence results
Associated Organs
- Primary Organ System: Lungs and respiratory system; also involves immune system, skin, joints, muscles, connective tissues, and other organs depending on underlying autoimmune disease
- Pulmonary Manifestations: Usual interstitial pneumonia (UIP), non-specific interstitial pneumonia (NSIP), organizing pneumonia (OP), diffuse alveolar damage (DAD), lymphoid interstitial pneumonia (LIP), and pulmonary hypertension
- Systemic Sclerosis-Associated ILD: Skin fibrosis, Raynaud's phenomenon, esophageal dysmotility, renal crisis, cardiac involvement, and vascular dysfunction in addition to pulmonary fibrosis
- Myositis-Associated ILD: Skeletal muscle inflammation and weakness, cutaneous manifestations (heliotrope rash, Gottron papules), arthritis, and systemic inflammation
- SLE-Associated ILD: Malar rash, photosensitivity, arthritis, serositis, hematologic abnormalities, renal involvement, and neuropsychiatric manifestations
- Rheumatoid Arthritis-Associated ILD: Joint erosions, synovitis, rheumatoid nodules, subcutaneous nodules, and systemic complications
- Potential Complications: Progressive pulmonary fibrosis with respiratory failure, pulmonary hypertension and right heart failure, increased risk of lung cancer (particularly in SSc-ILD), acute exacerbations, cardiac involvement (myocarditis, pericarditis), renal crisis, and systemic complications of underlying autoimmune disease
- Associated Diseases Identified: Systemic sclerosis (limited and diffuse), polymyositis, dermatomyositis, mixed connective tissue disease, systemic lupus erythematosus, rheumatoid arthritis, Sjögren syndrome, and anti-synthetase syndrome
Follow-up Tests
- Pulmonary Function Tests (PFTs): Assess baseline FVC, DLCO, and exercise-induced hypoxia; establish baseline for monitoring disease progression; recommended at initial diagnosis and every 6-12 months for ILD patients
- High-Resolution Computed Tomography (HRCT) Chest: Characterize pattern and extent of ILD (UIP vs NSIP vs other patterns); assess for disease-specific findings; baseline imaging essential for disease monitoring every 12-24 months or as clinically indicated
- Bronchoscopy with Bronchoalveolar Lavage (BAL): Obtain tissue diagnosis when clinical presentation is atypical or diagnosis remains uncertain; obtain BAL fluid for lymphocyte analysis to support autoimmune etiology
- Complement Levels (C3, C4) and ESR/CRP: Assess systemic inflammation status; low complement suggests active lupus; elevated inflammatory markers correlate with disease activity
- Myositis Markers (CK, Aldolase, Myoglobin): Assess muscle involvement when anti-synthetase or myositis-specific antibodies detected; monitor CK during therapy response assessment; repeat testing every 3-6 months in active disease
- Rheumatoid Factor and Anti-CCP (if RA suspected): Confirm RA diagnosis when appropriate; anti-CCP more specific and predictive of aggressive disease
- Echocardiography: Assess for pulmonary hypertension and right ventricular dysfunction; particularly important in SSc-ILD and myositis-ILD; baseline and annually for monitored patients
- Right Heart Catheterization: When pulmonary hypertension suspected on echo or clinical grounds; assesses hemodynamic severity and guides therapy
- Electromyography (EMG) and Muscle Biopsy: When myositis-associated ILD suspected and CK abnormal; muscle biopsy confirms myositis diagnosis and assesses patterns
- Skin and Renal Screening: Skin biopsy if scleroderma or DM suspected; urinalysis and renal function monitoring in SSc (particularly if anti-RNA polymerase III positive due to renal crisis risk)
- Monitoring Frequency: Initial comprehensive workup within 1-2 months of diagnosis; then every 3-6 months for active disease, or every 6-12 months for stable disease; more frequent monitoring for rapidly progressive phenotypes or when considering immunosuppressive therapy changes
Fasting Required?
- Fasting Status: No - Fasting is NOT required for the ILD Autoimmune Maxi panel
- Specimen Collection: Standard venipuncture; serum or plasma collection in appropriate tubes (typically SST or plasma separator tubes based on laboratory requirements)
- Medications to Avoid: No specific medication restrictions; continue all medications as prescribed. However, document all current medications and immunosuppressive therapy as these may affect antibody levels and results interpretation
- Patient Preparation: No special preparation needed; patient may eat and drink normally; inform phlebotomist of any recent immunizations (may affect results)
- Timing Considerations: Ideally collect specimen when patient not acutely ill; avoid collection during severe systemic inflammation when possible; results may be false-negative if tested very early in disease course (within first few weeks)
- Specimen Handling: Keep specimen at room temperature if being transported; follow laboratory guidelines for storage and processing; typically specimens stable for 7 days at 2-8°C refrigeration

How our test process works!