Unbiased Science

When The Diagnosis Is Thrown For A Lupus

Mar 18, 2026
Dr. Roberto Caricchio, rheumatologist and lupus researcher who leads translational programs at UMass Chan, discusses what lupus is and why it is so complex. He covers why diagnosis is often delayed and the different forms of the disease. He talks about genetic and environmental contributors, how clinicians establish diagnosis, and exciting new therapies including immune-reset approaches.
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INSIGHT

Skin-Limited Lupus Usually Stays Limited

  • Lupus has distinct subtypes: systemic lupus erythematosus and primarily skin-limited forms like discoid lupus and subacute cutaneous lupus.
  • Only a small percentage (≈5%) of skin-only lupus cases later evolve into systemic disease.
INSIGHT

Genetics Matter But Are Not Deterministic

  • Genetics strongly predispose to lupus but do not fully determine it; identical twin concordance is about 30%.
  • Caricchio explains most patients carry multiple risk polymorphisms rather than a single causative gene.
INSIGHT

Multiple Environmental Triggers Interact With Genes

  • Environmental factors include hormones, sun exposure, infections, and the microbiome, which interact with genetic risk to trigger disease.
  • Caricchio highlights female predominance, UV-induced flares, EBV association, and pro-inflammatory gut microbiome features.
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