Immunoglobulin G subclass 4-related disease of the lacrimal sac presenting as bilateral lacrimal sac nodules: Rare case report

Abstract

Immunoglobulin G subclass 4-related (IgG4) disease is a fibro-inflammatory systemic disease. It can present in different and wide variety of clinical presentations. The ocular manifestations of IgG4 disease are diverse, but the most common presentation is lacrimal gland involvement presenting as dacryoadenitis. In this case, we are going to present a rare presentation of IgG4-related disease involving the lacrimal sac on both sides of a 55-year-old Saudi male patient.

INTRODUCTION

Immunoglobulin G subclass 4-related (IgG4) disease is a rare fibro-inflammatory systemic disease with a wide variety of clinical manifestations. It is characterized by dense infiltration of the tissues by IgG4-positive plasma cells and the high serum level of IgG4. The disease was first described in the pancreas by Sarles et al. in 1961 as a case of idiopathic pancreatitis.[1,2]

One of the tissues that can be affected by IgG4 disease is the ocular adnexal tissue.[3] The ocular involvement in IgG4 disease is the first reported extrapancreatic site of the disease.[4] In the eye, the lacrimal gland is the most common part involved in most of the cases. In the literature, there are some reported cases of atypical involvement as a conjunctival or scleral involvement.

The ocular IgG4 disease may present as dacryoadenitis, orbital nerve enlargement, eyelid involvement, or involvement of the extraocular muscles.[5] Some of the atypical presentations of orbital IgG4 disease is the involvement of the nasolacrimal duct, in the literature, there are some reported cases of lacrimal sac involvement and presenting as daryocystocele or dacryocystitis.

In this article, we will present a rare and atypical presentation for IgG4-related disease involving the lacrimal sac of both sides.

CASE REPORT

This is a case of a 55-year-old Saudi male, not known to have any medical problem, who presented to our oculoplastic clinic at King Fahd University Hospital in Al-Khobar, Saudi Arabia, with a complaint of intermitted bloody and yellowish discharge, tearing from the left eye along with intermitted epistaxis from both nostrils 5 months ago. The patient reported severe headaches from time to time. The patient denied any history of bulging or enlargement around the mandibular angles, there is no history of jaundice or weight loss, and also the patient denied any history of trauma or contact with sick patients. Upon examination, there was a palpable mass over the medial canthal area of the left side with a positive regurge test and pinkish discharge, culture was taken and it showed no growth of the organism. Irrigation was done which showed obstruction of the nasolacrimal duct. Nasal examination showed mild septal deviation without any obvious obstruction or abnormal blood vessels. Visual acuity was 20/20 in both eyes without correction. Extraocular muscle movements were full. Intraocular pressure measured by Goldman applanation was 18 and 15 mmHg of the right and left eyes, respectively. No afferent pupillary defect (RAPD) was detected. Anterior segment examination showed clear eyelids, quit conjunctiva, clear cornea, deep and quiet the anterior chamber, clear iris, and clear crystalline lens of both eyes. Dilated fundus examination showed clear vitreous, healthy discs, healthy macula, and unremarkable examination of the periphery.

A computed tomography (CT) scan of the orbit and paranasal sinuses was requested, which showed left intraorbital extraconal mass suggesting lacrimal sac nodule. The patient then underwent external dacryocystorhinostomy (DCR) with an excisional biopsy of the left lacrimal sac. Histopathologic examination showed fibrosis with dense infiltration by lymphoplasmacytic cells >50 IgG4 plasma cells/high-power field (HPF), which raises the possibility of IgG4-related disease.

The patient was further evaluated, laboratory-wise, and the serum IgG4 level was high (376 mg/dl). Complete blood count was within normal range. Erythrocyte sedimentation rate and C-reactive protein were elevated, 32 mm/h and 0.88 mg/dl, respectively. Renal and liver function tests were within normal range, and magnesium, calcium, and phosphorus were normal also.

After 1 month, the patient returned with the same complaint but on the right side. MRI head with contrast was requested, and it showed right-sided lacrimal sac nodule, and the resolved left medial canthal cystic lesion that was diagnosed as lacrimal sac nodule [Figure 1]. The patient then underwent external DCR with an excisional biopsy of the right lacrimal sac; the histopathologic examination was consistent with the previous excisional biopsy. Gross photos of the patient were taken after 3-month follow-up [Figure 2].

Figure 1.

(a) Axial section of a head magnetic resonance imaging (MRI) with contrast. (b) Coronal section of a head MRI with contrast. Showing right-sided medial canthus cystic lesion measuring 6 mm × 8 mm × 10 mm in transverse, anterioposterior, and craniocaudal dimensions. Associated with occluded mildly dilated ipsilateral nasolacrimal duct

Figure 2.

(a) Gross external photo of the right side showing a resolved lacrimal sac nodule after endoscopic dacryocystorhinostomy (DCR). (b) Gross external photo of the left side showing a resolved lacrimal sac nodule with the scar of external DCR

DISCUSSION

IgG4 disease is a systemic disease, involving different organs in the body including the salivary, lacrimal glands, hepatobiliary system, or any part of the body, as a result of this, thorough history and clinical evaluation are essential in diagnosing and managing this disease.[6]

The most common involved part in IgG4 disease of the orbit is the lacrimal gland, in which the patient can present with variety of presentations including dacryoadenitis.[5] In our case, the patient presented in atypical presentation as a case of IgG4 disease of lacrimal sac presenting as bilateral dacryocystocele. This diagnosis has been made based on the radiological and pathological reports. The head MRI with contrast showed right lacrimal sac nodule on the right side and resolved one on the left, and the pathology report showed fibrosis with dense infiltration by lymphoplasmacytic cells >50 IgG4 HPF, in addition to elevated all serum IgG, especially IgG4 immunoglobulin.

This case is considered the first to be reported among the Saudi population. The previously reported cases of IgG4 disease of the lacrimal sac were in China, Japan, the United States, and the United Kingdom.[7] The unique part of our case is the bilateral involvement of the lacrimal sacs, which was similar to the published case for Suzuki et al.[8]

In the case of IgG4 disease involving the eye, the delayed treatment may lead to long-term consequences, as an example, untreated involvement of the lacrimal gland may lead to long-term effects and dry eye in the future. The treatment of choice for with IgG4 disease is corticosteroid therapy, which showed to good remission rate in managing active cases. In case of relapse after corticosteroid treatment, other immunosuppressive drugs can be used but not as first-line management, due to the insufficiency of the clinical data and trials. In refractory cases of IgG4 disease, surgical intervention can be made based on the location of the diseased organ.[1,9] Our patient did not have a good response to the corticosteroid therapy, so the surgical plan was carried out.

In conclusion, IgG4-related disease is a rare fibro-inflammatory systemic disease. One of the systemic tissues that can be involved is the ocular Adnexa. Lacrimal sac is the unusual site of ocular adnexal involvement, with only a few case reports worldwide. For patients presenting with dacryocystocele/dacryocystitis, IgG4-related disease should be considered in the differentials, keeping in mind, it is a rare cause.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.