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Related Concept Videos

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Personalized Peptide Arrays for Detection of HLA Alloantibodies in Organ Transplantation
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HLA-B27 Testing in Clinical Practice: A Retrospective Analysis of Testing Indications and Rheumatology Referral

Gregory C McDermott1, Mathieu Choufani2, Armaan Monshizadeh2

  • 1G.C. McDermott, MD, MPH, J. Ermann, MD, Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, and Harvard Medical School; gmcdermott@bwh.harvard.edu.

The Journal of Rheumatology
|June 1, 2025
PubMed
Summary

Human Leukocyte Antigen B27 (HLA-B27) testing is common in clinical practice for spondyloarthritis. However, many HLA-B27 positive patients are not referred to rheumatology, indicating a need for improved testing and referral strategies.

Keywords:
HLA-B27 testingspondyloarthritis

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Area of Science:

  • Immunogenetics
  • Rheumatology
  • Clinical Practice Research

Background:

  • The Human Leukocyte Antigen B27 (HLA-B27) allele is a significant genetic marker strongly associated with spondyloarthritis (SpA).
  • HLA-B27 is integral to classification criteria and guides referral strategies for axial SpA.
  • Limited data exists on the real-world application and outcomes of HLA-B27 testing in routine clinical settings.

Purpose of the Study:

  • To investigate the patterns of HLA-B27 testing in a large healthcare system.
  • To analyze demographics, ordering provider specialties, and indications for HLA-B27 testing.
  • To evaluate rheumatology referral rates based on HLA-B27 test results and identify areas for optimization.

Main Methods:

  • Retrospective analysis of adult patients undergoing HLA-B27 testing between January 1, 2022, and December 31, 2022.
  • Data collection included patient demographics, provider specialty, testing indications, and concurrent autoantibody testing (ANA, RF, anti-CCP).
  • Comparison of rheumatology referral rates between HLA-B27-positive and HLA-B27-negative patient cohorts.

Main Results:

  • 1960 patients were tested; 62.4% were female, with an average age of 47.4 years.
  • Rheumatology (39.7%) and ophthalmology (21.4%) were top ordering specialties; peripheral arthritis (33%), uveitis (22%), and back pain (16.7%) were common indications.
  • HLA-B27 positivity was 11%; ophthalmology had the highest positive rate (15.4%). Reactive arthritis showed the highest positive rate (50%).
  • A significantly higher proportion of HLA-B27-positive patients were referred to rheumatology (53%) compared to HLA-B27-negative patients (32%; P = 0.002).

Conclusions:

  • HLA-B27 testing is widely utilized by both rheumatologists and non-rheumatologists for diverse clinical indications.
  • Concurrent testing of HLA-B27 with autoimmune markers like ANA and rheumatoid factor autoantibodies is a frequent practice.
  • A substantial number of HLA-B27-positive patients (nearly half) did not receive a rheumatology referral, highlighting a critical gap in care pathways and necessitating improved strategies for judicious testing and referral.