A Systematic Review of Erdheim-Chester Disease and IgG4-Related Disease: Building a Diagnostic Framework for the Rheumatologist - PubMed
3 hours ago
- #Erdheim-Chester disease
- #IgG4-related disease
- #Diagnostic framework
- Erdheim-Chester disease (ECD) and IgG4-related disease (IgG4-RD) are rare multisystem disorders with overlapping features, leading to diagnostic challenges.
- ECD is characterized by long bone osteosclerosis, 'hairy kidneys,' coated aorta, diabetes insipidus, and BRAF V600E or MAPK pathway mutations.
- IgG4-RD features include autoimmune pancreatitis, sialadenitis, elevated serum IgG4, storiform fibrosis, and obliterative phlebitis.
- Imaging (FDG-PET, MRI) shows skeletal and cerebellar uptake in ECD, typically absent in IgG4-RD.
- ECD often requires targeted therapies (BRAF/MEK inhibitors), while IgG4-RD responds to corticosteroids, rituximab, or inebilizumab.
- A structured diagnostic framework integrates genetic testing, imaging, neurological features, and treatment response for accurate differentiation.