Immunoglobulin G4 related disease: a single-centre experience from South Australia.

BACKGROUND

IgG4 related disease (IgG4RD) is a newly described multisystem fibro-inflammatory disorder. There is a paucity of literature describing the Australian experience of this rare condition.

AIMS: To characterise the Royal Adelaide Hospital IgG4RD cohort with biopsy-proven disease.

METHODS

A search of the Frome Road SA Pathology database was performed for all tissue biopsies containing the phrase 'IgG4 positive'. Case notes were reviewed for clinical details, laboratory and radiology results. Histological features according to the Boston Criteria were used. Patients with available case notes, highly suggestive or probable histology and clinical features to suggest IgG4RD were included.

RESULTS

Twenty patients had definite or probable IgG4RD and suggestive clinical features; median age 59 (20-76), male : female 1.5:1. There was considerable delay in diagnosis (median diagnosis at 64 months). Organ involvement included: 11 exocrine gland, seven pancreatobiliary, seven nodal, seven soft tissue, five retro-orbital, three retroperitoneal fibrosis and two renal. Systemic symptoms at diagnosis were seen in eight patients. Seven (35%) had an elevated serum IgG4 (>1.35 g/L) at diagnosis. Only 12 (60%) required immunosuppressive treatment (corticosteroids); of these, four (20%) required a steroid-sparing agent and four (20%) required B-cell depleting therapy (rituximab). The median duration of follow up was 18 months.

CONCLUSIONS

This is the first characterised Australian cohort with generalised IgG4RD, a rare, relatively indolent and under-recognised multisystem disorder. Diagnosis is difficult given lack of awareness of this rare condition among physicians, its presentation as a great disease mimic, challenges with histopathological assessment and the absence of a suitable serum biomarker.