Article Text
PDF
Statistics from Altmetric.com
Description
A woman in her 50s with a past medical history of hypertension, diabetes mellitus, and social history of smoking and drug use presented with a couple of months’ history of left nasal obstruction, recurrent sinus infections, frequent epistaxis, muffled left ear, and significant weight loss. She denied fever, chills, facial pain or pressure, or previous ear infections. Her symptoms did not improve with oral antihistamines and nasal steroids. Clinical examination showed a nasal cavity filled with dry crusted blood, large septal perforation and left nasopharyngeal mass with ulceration on the torus tubarius seen with nasal endoscopy, and non-tender cervical lymphadenopathy was also noted. Ear examination was unremarkable except for left tympanic membrane retraction without effusion. CT of the neck showed a left nasopharyngeal mass with extensive lymphadenopathy (figure 1, panel A). Fine needle biopsy of the mass showed an admixture of T&B lymphocytes with plasma cell hyperplasia consistent with polytypical plasma cells (figures 2–3). She was diagnosed with IgG4-related disease (IgG4-RD) and was started on high-dose prednisone with gradual tapering as an outpatient. During a 3-month follow-up, she reported significant improvement in her clinical symptoms and her neck CT scan showed significant interval improvement of her previously noted mass and lymphadenopathy (figure 1, panel B).
CT neck, panel A before treatment showing asymmetry of the left nasopharynx (arrow), panel B after treatment showing significant improvement of the nasopharynx (arrow).
Histopathology sections stained by H&E at × 10 magnification (panels A and B) and × 40 magnification (panels C and D) illustrating admixture of T&B lymphocytes with plasma cell hyperplasia consistent with polytypic plasma cells.
Histopathology immunohistochemistry sections showing positive CD10 and CD138 at × 40 magnification (panels A and B consecutively).
IgG4-RD is a systemic immune-mediated fibroinflammatory disease characterised by dense IgG4-positive plasma cells tissue infiltration with or without elevated plasma levels of IgG4.1 The exact prevalence of the disease is still unknown. Typically, it affects middle-aged to elderly men, however in patients with head and neck involvement female predominance was noted.2 Common presentations include type 1 (IgG4-related) autoimmune pancreatitis (AIP), IgG4-related sclerosing cholangitis, typically occurring together with type 1 AIP, major salivary gland enlargement or sclerosing sialadenitis presenting with the combination of lacrimal, parotid and submandibular gland enlargement, orbital disease, often with proptosis, retroperitoneal fibrosis, frequently with chronic periaortitis that often affects the ureters, resulting in hydronephrosis and kidney injury, however it can affect any organ.3 The revised comprehensive diagnostic (RCD) criteria for IgG4-RD include clinical and radiological features in the form of diffuse or localised swelling, or a mass or a nodule in one or more organ characteristic of IgG4-RD. Serological diagnosis with serum IgG4 concentration >135 mg/dL, and pathological diagnosis is positive for two of three of the following criteria: (1) Dense lymphocyte and plasma cell infiltration with fibrosis (2) Ratio of IgG4-positive plasma cells/IgG-positive cells >40% and the number of IgG4-positive plasma cells >10 per high-powered field (3) Typical tissue fibrosis, especially storiform fibrosis, or obliterative phlebitis. Based on RCD criteria, definitive IgG4-RD in patients who fulfilled all criteria, is probable if fulfilled items are (1) and (3), and is possible if fulfilled items are (1) and (2).4 Prednisone at a dose of 40 mg once daily is the main initial treatment with a gradual response within 2–4 weeks or even earlier in most patients with a gradual taper over a period of 2–3 months. Other immunosuppressive therapies such as rituximab or alternatively methotrexate, azathioprine, mycophenolate, 6-mercaptopurine and cyclophosphamide remain a second line in corticosteroids-resistant patients with overall favourable prognosis with periodic follow-up.5
Learning points
IgG4-related disease (IgG4-RD) is a rare systemic immune-mediated fibroinflammatory disease that can affect any organ with affecting virtually any organ with middle-aged to elderly males’ predilection.
IgG4-RD criteria contain three components: (1) Clinical and radiological features, (2) Serological diagnosis, and (3) Pathological diagnosis. Definitive IgG4-RD, if all components are fulfilled, is probable if (1) and (3) are fulfilled, and is possible if (1) and (2) are fulfilled.
Prednisone is the first-line treatment with a gradual response within weeks or even earlier in most patients. Other immunosuppressive therapies such as rituximab can be used in corticosteroids-resistant patients with an overall favourable prognosis.
Ethics statements
Patient consent for publication
Footnotes
Twitter @M_H_Abdelnabi
Contributors MA, and NE were directly involved in the patient’s care, JT and PY wrote the original manuscript, MA and NE edited and revised the manuscript, and MA edited the figures. All the authors approved the final version of the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.