Introduction The aim of this study was to survey gastroenterologists and allergists to examine clinical practice patterns related to dietary therapy for eosinophilic esophagitis (EoE). Methods A multidisciplinary team developed a 17-question survey on dietary therapy for EoE, which was distributed to gastroenterologists and allergists at a tertiary care referral center. Results A total of 20 responses were collected from gastroenterologists (n=13) and allergists (n=7). Most providers frequently or very frequently discussed dietary elimination for newly diagnosed EoE (80%). One-fourth of respondents only considered pharmacologic therapy to be first-line. Half of respondents frequently or very frequently recommended starting both medical therapy and dietary elimination simultaneously. Most frequently discussed elimination diets were 1,2,4,6-food elimination diets (35%), 1 or 2-food elimination (30%), and 4 or 6-food elimination (25%); however, 50% of gastroenterologists frequently referred patients for allergy-based testing to guide elimination diets (Figure 1). Only half of providers reported feeling very or extremely confident in discussing details about dietary elimination and 70% never or rarely involved a dietitian (Figure 1). While 85% used symptoms and endoscopy/histology to determine dietary response, 42% used symptoms alone to identify food triggers. Most (75%) expressed interest in an educational module on dietary therapy for EoE. Conclusion There is considerable variation in clinical practice patterns regarding dietary therapy for EoE. Most providers did not involve a dietician, and only half reported a high degree of confidence in discussing dietary elimination. Increased provider education is needed to promote best practices related to dietary management of EoE.
Introduction In WAYPOINT (NCT04851964), tezepelumab significantly improved nasal polyp (NP) size and sinonasal symptoms and reduced systemic corticosteroid (SCS) use versus placebo in adults with severe chronic rhinosinusitis with nasal polyps (CRSwNP). This analysis evaluated tezepelumab efficacy among WAYPOINT participants across baseline blood eosinophil counts (BECs). Methods WAYPOINT participants (N=410) were randomized 1:1 to receive tezepelumab 210 mg or placebo subcutaneously every 4 weeks for 52 weeks. Changes from baseline to week 52 in total NP score (NPS), mean biweekly nasal congestion score (NCS), biweekly mean loss-of-smell score, Sino-Nasal Outcomes Test (SNOT)-22 total score and University of Pennsylvania Smell Identification Test (UPSIT) were assessed by baseline BEC using locally estimated scatterplot smoothing regression. Time to first SCS use and to first NP surgery decision over 52 weeks was evaluated by baseline BEC. Results Consistent with the trends for greater improvement in NPS and NCS in patients with higher baseline blood BECs in WAYPOINT, improvements in SNOT-22, loss-of-smell and UPSIT scores at week 52 were numerically greater with tezepelumab versus placebo across baseline BECs, with greater improvements observed in those with higher BECs at baseline (Figure). Compared with placebo, tezepelumab also reduced the need for SCS, and reduced the need for NP surgery to very low levels, across baseline BEC subgroups. Conclusion Improvements in NP size, nasal congestion, sinonasal symptoms, smell outcomes and a reduced need for SCS and NP surgery were observed across baseline BECs with tezepelumab versus placebo among patients with severe CRSwNP in WAYPOINT.
Introduction Severe T-cell lymphopenia on newborn screening warrants prompt differentiation between intrinsic hematopoietic defects and primary disorders of thymic development, as therapeutic approaches differ substantially. Congenital athymia, historically linked to 22q11.2 deletions and TBX1 mutations, may also arise from other pathogenic variants. Case Presentation A full-term small-for-gestational age male neonate was transferred for urgent repair of double outlet right ventricle, aortic coarctation, interrupted inferior vena cava, and a large patent ductus arteriosus. Additional anomalies included coloboma, sensorineural hearing loss, and facial palsy. Gene sequencing for congenital heart defects confirmed a pathogenic CHD7 variant, consistent with CHARGE syndrome. Newborn screening revealed severely low T-cell receptor excision circles (TRECs = 1/µL). Immunologic evaluation showed profound T-cell lymphopenia (CD3+, CD4+, CD8+ = 0/µL). Although naïve T-cells (absent) and mitogen proliferation assays (non-reactive) were pending, prompt referral was made for thymic implantation. All findings including the lack of lymphadenopathy, rash, and maternal chimerism were consistent with typical complete athymia. Despite expedited multidisciplinary coordination with cardiothoracic surgery, hemodynamic instability precluded intervention. The patient died at 11 days of life. Discussion This case highlights the importance of recognizing congenital athymia in syndromic infants with absent TRECs and T cells. Early referral for thymic implantation, the primary available therapy for immune reconstitution, is essential. Coexisting congenital heart disease may limit the therapeutic window and complicate decision-making.
