Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (5)

IgG4-related disease
Other Resources UpToDate PubMed

IgG4-related disease

Contributors: Alexandra Charrow MD, Sotonye Imadojemu MD, Mary Anne Morgan MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a rare multisystem inflammatory disease of unknown cause resulting in a collection of disorders that share pathologic, serologic, and clinical features. IgG4+ plasma cells infiltrate involved organs. Secondary organ fibrosis and accompanying high levels of circulating IgG4 are often seen. Recorded cases occur more commonly in middle- and advanced-aged individuals, and the condition has a slight male predominance. Pediatric cases of systemic IgG4-RD are noted in the literature, but few cases note cutaneous involvement.

Clinical manifestations are variable depending on the organ system involved. Most commonly, IgG4-RD is associated with autoimmune pancreatitis (see chronic pancreatitis), a rare, chronic disease with varied presentation, often mimicking pancreatic malignancy, making diagnosis challenging. Autoantibodies in the pancreas cause inflammation and enlargement. Other manifestations include lymphadenopathy, biliary obstruction (may present similarly to primary sclerosing cholangitis), membranous nephropathy, salivary dysfunction, lacrimal gland dysfunction, retroperitoneal fibrosis, coronary arteritis, cutaneous plaques on the head and neck, and atopy (asthma, eczema), etc, although nearly any organ system can be affected. Symptoms typically develop over months to years, and treatment success is variable.

Proposed diagnostic criteria include:
  1. Clinical examination shows characteristic diffuse / localized swelling or masses in single or multiple organs.
  2. Hematological examination shows elevated serum IgG4 concentrations (135 mg/dL).
  3. Histopathologic examination shows:
    • Marked lymphocyte and plasmacyte infiltration and fibrosis.
    • Infiltration of IgG4+ plasma cells: ratio of IgG4+ / IgG+ cells > 40% and > 10 IgG4+ plasma cells per high-power field.
The diagnosis is definite if all 3 criteria are present. If the first and third criteria are present, the diagnosis is probable. If the first and second criteria are present, the diagnosis is possible.

Codes

ICD10CM:
D80.3 – Selective deficiency of immunoglobulin G [IgG] subclasses

SNOMEDCT:
234549008 – Immunoglobulin G4 deficiency

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:06/29/2022
Copyright © 2024 VisualDx®. All rights reserved.
IgG4-related disease
A medical illustration showing key findings of IgG4-related disease : Lymphadenopathy
Copyright © 2024 VisualDx®. All rights reserved.