Confusions and challenges in the diagnosis of IgG4 ‐related disease

作者：Nianyi Zhang, Wen Zhang · 发表于：International Journal of Rheumatic Diseases · 年份：2023 · DOI：10.1111/1756-185x.14897 · 被引用次数：2 · 研究领域：IgG4-Related and Inflammatory Diseases、Neuroendocrine Tumor Research Advances、Soft tissue tumor case studies

Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a multi-organ immune-mediated fibroinflammatory disorder characterized by elevated serum IgG4 levels and tissue infiltration of IgG4-positive plasma cells. IgG4-RD affects nearly every organ, particularly lacrimal glands, major salivary glands, pancreas, bile ducts, lungs, kidneys, aorta, and retroperitoneum.1-3 Less commonly, it can also involve the meninges, pituitary gland, thyroid gland, pericardium, mediastinum, testicles, and coronary arteries.4 Timely diagnosis and treatment are crucial to prevent severe organ dysfunction and failure. The diagnosis of IgG4-RD lacks a “gold standard”, which necessitates a comprehensive approach that integrates representative clinical manifestations, specific histopathological findings, typical laboratory and radiological aspects, and appropriate clinical context. The complexity increases owing to the heterogeneity in clinical and imaging manifestations of the disease, which necessitates differentiation from various other conditions. Notably, neither the elevation of serum biomarker IgG4 nor the infiltration of IgG4+ plasma cells or storiform fibrosis is a unique feature in this disease, as those manifestations lack specificity. The diagnostic journey for IgG4-RD is thus full of numerous challenges and potential pitfalls. Currently, instances of underdiagnosis and overdiagnosis coexist. Tumor-like changes in IgG4-RD are one of the primary causes of underdiagnosis. In addition, underdi...