Ear, Nose, Throat, and Bronchial Involvements in VEXAS Syndrome

Abstract

lesion at the cerebellopontine angle, and spindle cell histologic findings are suggestive of a schwannoma; however, this was ruled out by immunonegative S-100 findings. Infantile hemangioma (IH) was ruled out by the glomeruloid-like architecture of the vascular epithelial nodules, not seen in IH. 1 An additional concern with KHE is the development of KMS. Although KMS has been reported in small (<5 cm) KHEs, it is hypothesized that KMS is more likely with larger retroperitoneal and mediastinal KHEs in younger patients. 1,3 The small size of the KHE at diagnosis may have preempted development of KMS in this patient.Rapid growth and location rendered treatment necessary. Surgical intervention is typically the first-line treatment. Steroids, interferon, and vincristine have been part of the treatment regimen when resection is difficult, as in this case. 2 However, success with these agents has been limited, leading to investigation of other pharmaceuticals. Several studies support the efficacy of sirolimus in reducing tumor size and controlling hematopoietic values. 5 Sirolimus was thus chosen as the initial treatment with good early results.

Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review

“…With regards to co-existing autoimmune and/or autoinflammatory diseases, pulmonary involvement was described in patients previously diagnosed with or meeting diagnostic criteria for several conditions: relapsing polychondritis (n = 33) [14,19,23,31,[41][42][43]; ANCAassociated-vasculitis (AAV; n = 1) [24]; antibody-negative vasculitis (n = 9) [14]; IgA-vasculitis (n = 1) [23]; systemic lupus erythematosus (n = 1) [21]; Sweet syndrome (n = 2) [25,44]; Behcet's disease (n = 1) [38]. Pulmonary involvement in patients with these co-existing conditions, where described, are summarized in Table 1.…”

“…The most frequently described manifestation was pulmonary infiltrates (43.1%; n = 116) [ 1 , 8 , 12 – 34 ], followed by pleural effusion (7.4%; n = 20) [ 8 , 18 , 20 , 22 , 24 , 27 , 28 , 32 , 35 ] and idiopathic interstitial pneumonia (3.3%; n = 9) [ 14 , 18 , 25 , 27 , 28 , 32 , 36 , 37 ]. Other pulmonary manifestations described were NSIP ( n = 1) [ 14 ]; bronchiolitis obliterans ( n = 3) [ 14 ]; pulmonary vasculitis ( n = 6) [ 14 , 24 ]; bronchiectasis ( n = 1) [ 14 ]; alveolar haemorrhage ( n = 1) [ 38 ]; pulmonary embolism ( n = 4) [ 35 , 39 – 41 ]; bronchial stenosis ( n = 1) [ 42 ]; and alveolitis ( n = 1) [ 36 ].…”

“…Other pulmonary manifestations described were NSIP ( n = 1) [ 14 ]; bronchiolitis obliterans ( n = 3) [ 14 ]; pulmonary vasculitis ( n = 6) [ 14 , 24 ]; bronchiectasis ( n = 1) [ 14 ]; alveolar haemorrhage ( n = 1) [ 38 ]; pulmonary embolism ( n = 4) [ 35 , 39 – 41 ]; bronchial stenosis ( n = 1) [ 42 ]; and alveolitis ( n = 1) [ 36 ].…”

“…Our review identified several co-existing autoimmune and/or autoinflammatory conditions, with predominance of respiratory involvement, in patients diagnosed with VEXAS syndrome, most commonly relapsing polychondritis ( n = 33). Patients had typical pulmonary manifestations seen in this condition, such as bronchial stenosis and bronchial wall thickening [ 42 ]. VEXAS was also diagnosed in patients with vasculitis (including Behcet’s syndrome), in some cases in conjunction with relapsing polychondritis [ 23 ].…”

“…Treatment of VEXAS is an evolving area of research and it is beyond the scope of this article to be able to comment on potential therapeutic options from the evidence presented here. Treatment strategies used in the included cases varied markedly, and included high-dose corticosteroids (most commonly reported), conventional synthetic disease-modifying antirheumatic drugs (DMARDs) including methotrexate and mycophenolate, and biologic DMARDS, including cyclophosphamide, IL-1 antagonists, IL-6 inhibitors, TNF inhibitors, rituximab and JAK inhibitors [1,8,24,26,29,32,35,42]. There was one reported case of the use of ruxolitinib followed by allogeneic stem cell transplant [39].…”