Autoimmune Disease Diagnosis and Monitoring

Initial Evaluation

A comprehensive autoimmune workup should include inflammatory markers, complete blood count, autoantibody panels, and organ-specific tests based on clinical presentation to accurately diagnose and monitor autoimmune conditions 1
Complete blood count (CBC) with differential should be performed to assess for cytopenias, which are common in many autoimmune conditions 1
Inflammatory markers including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) should be evaluated to assess disease activity 1
Comprehensive metabolic panel including liver and kidney function tests should be performed to assess for organ involvement 1
Antinuclear antibody (ANA) testing should be used as a screening tool for many systemic autoimmune diseases 1
Rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) antibodies should be tested for suspected inflammatory arthritis 2

For suspected systemic lupus erythematosus, anti-dsDNA, anti-Smith, anti-RNP, anti-SSA, anti-SSB antibodies should be tested 1
For suspected systemic sclerosis, anti-centromere, anti-Scl-70, anti-RNA polymerase III antibodies should be tested 1
For suspected autoimmune hepatitis, anti-smooth muscle antibodies, anti-liver kidney microsomal antibodies, and serum immunoglobulins should be tested 3
For suspected myositis, anti-Jo-1 and other myositis-specific antibodies should be tested 4

Creatine kinase (CK), transaminases (AST, ALT), lactate dehydrogenase (LDH), and aldolase should be tested for suspected inflammatory myopathies 4
Troponin should be tested to evaluate for cardiac involvement in inflammatory myositis 4
Liver function tests and hepatitis serologies should be performed to exclude viral causes of liver disease 3
Celiac disease antibodies (tissue transglutaminase, endomysial antibodies) should be tested in appropriate clinical settings 1
Thyroid function tests (TSH, free T4) and thyroid antibodies (anti-TPO, anti-thyroglobulin) should be tested for suspected autoimmune thyroid disease 2
Cerebrospinal fluid analysis including cell count, protein, glucose, IgG index, and oligoclonal bands should be performed for suspected autoimmune neurological conditions 5
Neural-specific antibodies should be tested for suspected autoimmune encephalitis 5

HLA typing (particularly HLA-B27) should be performed for suspected spondyloarthropathies 2
Complement levels (C3, C4, CH50) should be tested for suspected lupus or complement deficiencies 1
Cryoglobulins and serum protein electrophoresis should be tested for suspected cryoglobulinemic vasculitis 6
Iron studies including ferritin and transferrin saturation should be performed to exclude hemochromatosis in patients with elevated liver enzymes 3

Serial measurements of inflammatory markers (ESR, CRP) should be performed to assess treatment response 1
Autoantibody testing should be performed before initiating immunosuppressive therapy when possible, as treatment may affect results 2
Testing for latent tuberculosis and viral hepatitis should be considered before starting immunosuppressive therapy 1
Genetic testing may be warranted in patients with suspected autoinflammatory syndromes 7