HLA associations

 

HLA Associations: High-Yield Board Review

Human Leukocyte Antigens (HLA) are essential for self-recognition and antigen presentation. Many autoimmune and inflammatory diseases exhibit strong associations with specific HLA alleles, which serve as high-yield “buzzwords” for clinical vignettes.

HLA Allele Associated Conditions
HLA-B27 Psoriatic arthritis, Ankylosing spondylitis, Inflammatory bowel disease-associated arthritis, Reactive arthritis (PAIR).
HLA-DR3 Diabetes mellitus type 1, SLE, Graves disease, Hashimoto thyroiditis, and Addison’s disease.
HLA-DR4 Rheumatoid arthritis, Diabetes mellitus type 1.
HLA-DQ2 / DQ8 Celiac disease (Strongest genetic association).
HLA-DR2 Multiple sclerosis, Goodpasture syndrome, and hay fever.
HLA-B8 Myasthenia gravis, Graves disease.

High-Yield Exam Mnemonics & Pearls

  • PAIR (B27): Use this to remember the seronegative spondyloarthropathies: Psoriatic arthritis, Ankylosing spondylitis, IBD-associated arthritis, and Reactive arthritis.
  • Celiac (DQ2/DQ8): If a patient presents with iron deficiency anemia, diarrhea, and dermatitis herpetiformis, look for HLA-DQ2/DQ8 in the options.
  • Goodpasture (DR2): Remember the “Goodpasture” is “2” (DR2) words long.
  • Diabetes Type 1 (DR3/DR4): Patients who are DR3/DR4 positive are at significantly higher risk than those with only one.

Pathology Note: HLA genes are located on chromosome 6. They encode Class I molecules (A, B, C), which present to CD8+ T-cells, and Class II molecules (DR, DP, DQ), which present to CD4+ T-cells.