Sarcoidosis: Causes

Pathogenesis (disease development)

The etiology of sarcoidosis is unclear. A genetic predisposition is assumed.

Histologic workup of biopsies (tissue samples) reveals epithelioid cell granulomas with Langhans giant cells. These partly contain so-called Schaumann and asteroid bodies. However, these findings are not specific for sarcoidosis.

Etiology (Causes)

Biographic Causes

  • Genetic burden from parents, grandparents
    • Genetic risk depending on gene polymorphisms:
      • Genes/SNPs (single nucleotide polymorphism):
        • Genes: ANXA11
        • SNP: rs1049550 in gene ANXA11
          • Allele constellation: CC (1.6-fold).
          • Allele constellation: TT (0.62-fold)
      • Frequent occurrence of HLA-DQB1.
      • Gene mutation of BTNL2 (chromosome 6).
      • Gene mutation CARD 15 gene (chromosome 16q12-q21) – predisposition to early onset sarcoidosis.
  • Professions – Nurses are increasingly affected.

Medication

  • Immunotherapies (e.g., for hepatitis C) can induce or exacerbate sarcoidosis