Highlighting the importance of early diagnosis in progressive multi-organ involvement of IgG4-related disease: A case report and review of literature

Abstract

IgG4-related disease (IgG4-RD) is an increasingly recognized pathological entity that tends to involve multiple organs with an elevated level of serum IgG4, which is easily misdiagnosed owing to sharing common clinical features with a variety of other diseases. Here, we report an interesting IgG4-RD case of a woman with progressive multi-organ involvement for over 19 years, started with swollen eyelids, dry eye and mouth, and polydipsia and hydruria. Imaging diagnosis revealed diffuse enlargement of the parotid glands, enlargement of the head of the pancreas, pulmonary infection and interstitial lung. Serological tests showed a remarkable elevation of the serum IgG4, and cytological analysis further revealed a large amount of lymphoplasmacytic infiltration into the focal lobule, and IgG4-positive cell infiltration in bladder mucosa. Therapeutically, the patient responded well to steroid therapy, and thus, she was diagnosed as IgG4-RD suspicious. This report highlights the importance of an early diagnosis in this autoimmune disease and suggests that patients with a clinically unclear cause of inflammation, swelling and refractory glands, rhinitis, pancreatitis, hypophysitis, and/or interstitial pneumonia should be considered for IgG4-RD. The plasma IgG4 level and lymphoplasmacytic infiltration may be useful indexes for screening, and a low dose of steroid maintaining therapy may offer benefits for patients with IgG4-RD.

Immunoglobulin G4-related periodontitis: case report and review of the literature

“…Although the etiology of IgG4-RD is not clear, it is possibly caused by a genetic, microbiological, or persistent antigenic or autoimmune stimulus [ 19 ]. In addition, several studies demonstrated that IgG4-RD is a Th2-dependent disease [ 1 , 20 ], and it can be a result of immunological and allergic conditions in different organs [ 19 ]. IgG4-RDs include autoimmune pancreatitis, Mikulicz disease (MD), pachymeningitis, hypophysitis, orbital pseudotumor, chronic sclerosing dacryoadenitis, pericarditis, sclerosing cholangitis, prostatitis, and other disorders [ 2 , 21 , 22 ].…”

“…Among 23 cases, five cases were initially misdiagnosed and only correctly diagnosed after 7–20 months [ 7 , 39 , 42 ]. Xue et al [ 20 ] reported a case of a 60-year-old woman who had been diagnosed as IgG4-RD after 19 years of misdiagnosis. In this period, the patient suffered multi-organ progressive enlargement, involving the parotid glands, lacrimal glands, kidneys, submandibular glands, salivary glands, pituitary, pancreas, and lung.…”

“…The dosage of corticosteroids can be adjusted according to the severity of the patient’s condition. In one case, the patient was given pulsed therapy with 200 mg of methylprednisolone and 20 g gamma globulin via intravenous infusion [ 20 ]. After corticosteroid therapy, the prognosis is good, with a return to a normal serum IgG4 level and no recurrence.…”

Cryotherapy Ablation in Immunoglobulin G4–Related Disease of the Trachea

“…More data are required to obtain clarity on the pathophysiology behind IgG4-RD, 6 as well as the lasting effect cryotherapy can inflict on these tumor-like lesions; however, collection of such data will be challenging, as these cases present extremely rarely. We propose that, in exceptional cases with critically compromised airways, when glucocorticoids are contraindicated or no longer control the disease, cryotherapy may become part of a treatment strategy for urgent, long-term, or palliative management.…”