Case Presentation: An 80-year-old man with past medical history of GERD and hypothyroidism presented to the hospital with a 3-month history of progressive dysphagia, odynophagia, painful tongue swelling, and an associated 40-pound weight loss. Initial physical exam was only notable for left sided tongue swelling that resolved after one day of dexamethasone. Labs during hospitalization showed mild leukopenia (nadir 2.5 K/cumm) and anemia (nadir 7.8 g/dL), CRP 120 mg/L, ESR >145 mm/hr. Infectious workup (including histoplasmosis, tuberculosis, syphilis, cryptococcus, coccidioides) returned negative. UPEP and immunofixation were negative, while SPEP showed IgG lambda paraprotein and elevated K/L ratio that was determined to be consistent with MGUS by hematology. ANA and ENA were negative, ANCA was indeterminate, and MPO/PR3 was negative. Brain MRI was unremarkable. PET CT did not show evidence of vasculitis. Inpatient neurologic workup including EMG/NCS and anti-acetylcholine receptor antibody were negative. Temporal artery biopsy was deferred following discussion with the patient. Given persisting suspicion for Giant Cell Arteritis (GCA), he was initiated empirically on 1mg/kg of prednisone. His dysphagia improved, and he advanced from strict NPO diet to full liquid diet, at which time he was discharged on a high dose prednisone taper with plans to follow up with rheumatology. His symptoms relapsed and he began to have temporal pain when the steroids were initially tapered, leading to an extension of the treatment duration. As an outpatient, his bicytopenia persisted despite treatment, prompting evaluation for VEXAS syndrome. Myseloseq was positive for the UB1A c.121A>G (p.M41V) variant and he was initiated on tocilizumab.
Discussion: This case describes dysphagia and tongue swelling as an atypical initial presentation of GCA/VEXAS syndrome. GCA has a prevalence of 1 in 500 individuals and occurs predominantly in patients aged 50 and older [1]. Common symptoms include headache, vision changes, jaw claudication, fever, and polymyalgia rheumatica [2]. Dysphagia and tongue necrosis have been reported as uncommon symptoms that portend a higher risk of occurrence (50%) [3,4]. GCA can be associated with VEXAS syndrome, a rare, X-linked disorder that is associated with somatic mutations in the UBA1 gene leading to autoinflammatory and hematopoietic disease that is often refractory to conventional antirheumatic therapy. Clinical manifestations may include fever, vasculitis, arthralgias, anemia, and bone marrow failure [5,6].
Conclusions: While not typical, GCA can present with symptoms of isolated dysphagia and high inflammatory markers. If suspected, early initiation of steroids is crucial to prevent devastating complications such as blindness and strokes. In patients who have persisting inflammatory symptoms that are treatment resistant or demonstrate multiorgan involvement (e.g. cytopenias), workup for VEXAS syndrome may be warranted.