A case of Heerfordt’s waldenstrom syndrome: Rare subtype of sarcoidosis

Heerfordt’s Waldenstrom Syndrome (HWS) is a rare subtype of sarcoidosis. It was first described in 1909 by Christian Frederick Heerfordt. In 1937, Jan G. Waldenstrom classified it as a manifestation of sarcoidosis. Classic clinical presentation includes anterior uveitis, parotid gland enlargement,[1,2] fever, and facial nerve palsy. A 39-year-old female presented with chief complaints of photophobia, pain and redness in eyes along with blurring of vision in both eyes. Her best-corrected visual acuity at presentation was 20/30 and N6 blur in both eyes. Slit-lamp examination showed circumcorneal congestion, grade 2+ cells and 2+ flare in both eyes and mutton fat KPs in the left eye inferiorly [Figure 1]. Intraocular pressure was 16 mmHg. Rest of the ophthalmic examination was unremarkable. The patient gave a history of dryness of mouth along with bouts of evening rise of fever for the past 8–12 weeks. Her physical examination revealed erythematous rash over the legs and parotid gland enlargement. There was no history of cough/loss of weight and appetite/back pain/joint pain/morning stiffness of joints/trauma. Based on ophthalmic examination, a provisional diagnosis of bilateral acute granulomatous anterior uveitis was made. Topical steroid (1% prednisolone acetate) 1 hourly, cyclopentolate 3 times a day, and 0.5% timolol maleate 2 times a day were started for both the eyes. The patient was advised laboratory investigations (routine investigations, liver function test, electrocardiogram, chest X-ray, fever profile, tuberculosis [TB] profile, serum angiotensin-converting enzyme [ACE] levels, serum electrolytes and proteins, serology, anti-nuclear antibody blot, rheumatoid arthritis factor, and cyclic citrullinated peptide antibodies) to rule out causes of fever, TB, sarcoidosis, and autoimmune diseases. All the investigations result was within normal limits and she was referred for rheumatology consultation. The patient was also advised high-resolution computed tomography-chest by rheumatologist which revealed few atelectatic bands in apical zones of B/L lung along with multiple variable sized enlarged lymph nodes (LN) in axillary region with calcification [Figure 2]. Ultrasonography of axillary region showed multiple enlarged necrotic LN, few of these LN showed increased vascularity suggestive of inflammatory origin and Histopathology (fine needle aspiration cytology) of axillary LN showed non-caseating granulomatous inflammation [Figure 3]. Rheumatologist diagnosed her as a case of HWS (incomplete type). After 1 week of presentation, signs and symptoms were reduced, and visual acuity was improved to 20/20 for both the eyes. Topical cycloplegic and antiglaucoma medication was continued for one more week, and topical corticosteroid was tapered over 4 weeks. After 4 weeks, the patient was reviewed again, and there were no signs of ocular inflammation. At this time, ophthalmic treatment was stopped and the patient was continued on oral corticosteroid (Methylprednisolone) in tapering doses as per rheumatologist’s advice.Figure 1: Slit-lamp photographs showing: (a and b) circumcorneal congestion in the right and left eye, respectively. (c and d) grade 2+ cells and flare in the right and left eye, respectively. (e) mutton fat keratic precipitates inferiorly in the left eye (blue arrow)Figure 2: High-resolution computed tomography chest showing: (a) multiple variable-sized enlarged lymph nodes in the left axillary region with calcification. (b and c) Few atelectatic bands in bilateral apical zonesFigure 3: (a) Ultrasonography of axillary lymph nodes (LNs) showing multiple enlarged necrotic LN, few of which are showing increased vascularity suggesting an inflammatory origin, and (b) showing histopathology (fine-needle aspiration cytology) of axillary LN showing noncaseating granulomatous inflammationDiscussion In this, basic pathology is granulomatous inflammatory reaction. A study by Darlington et al. showed correlation between HWS and HLADRB1*04.[3] If all four components – anterior uveitis, parotid enlargement, fever, and facial nerve palsy are present, it is considered as complete type, and if at least two out of three components (anterior uveitis, parotid enlargement, and facial nerve palsy) are present, it is labeled the incomplete type.[4] Our case had bilateral anterior uveitis, parotid gland enlargement, and fever, and thus she was categorised as incomplete type of HWS. Corticosteroid treatment is the mainstay of treatment and usually leads to the resolution of facial nerve palsy, uveitis, and parotid gland swelling. Artificial tear drops may also be implemented when facial paralysis with lagophthalmos is present.[5] Here, physical examination plays an important role. In this type of sarcoidosis, serum ACE levels are not always raised, so if supportive features are found to diagnose this rare subtype of sarcoidosis, manage accordingly. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Data availability statement The data supporting the findings of this study will be made available on reasonable request. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.