多発血管炎性肉芽腫症

BACKGROUND: Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare, chronic disease that significantly affects quality of life (QoL). Despite improved survival, many patients experience persistent symptoms and complex care needs. Patient-reported data on QoL and perceived care quality remain limited, particularly in Italy. This study aimed to assess health-related QoL and patient-perceived care quality among Italian EGPA patients and to identify distinct patient profiles through cluster analysis to inform personalized, multidisciplinary care strategies. METHODOLOGY: We conducted a cross-sectional, 77-item online survey among adult EGPA patients (self-reported diagnosis) between December 2024 and January 2025. The survey, developed with APACS APS (Associazione Pazienti con Sindrome di Churg-Strauss), was distributed via the SurveyMonkey platform. It included validated instruments: SF-36 for health-related QoL and PACIC (with PACIC-5As) for perceptions of chronic care. Additional demographic, clinical, and disease impact data were collected. Descriptive statistics and group comparisons were performed. SF-36 and PACIC domains were analyzed using principal component analysis (PCA), followed by k-means clustering to identify patient subgroups. RESULTS: Seventy-two patients completed the survey (mean age 56; 65% female; median disease duration 7 years; 84.7% on biologics; 41.7% on glucocorticoids). SF-36 scores showed moderate QoL impairment (mean PCS 56.3 ± 24.6; MCS 59.3 ± 24.1), with lower QoL among females, divorced/separated individuals, and those with neurological involvement. Paresthesia had the greatest impact, affecting multiple QoL domains and daily functioning (p < 0.05). PACIC scores reflected moderate perceptions of care (2.8-3.5), with lowest scores in "Goal Setting" and "Care Coordination." PACIC-5As scores were low (mean 2.3), indicating suboptimal collaborative care. Cluster analysis identified three profiles: (1) poor QoL with high healthcare engagement (n = 12); (2) best QoL and care ratings (n = 38); (3) intermediate health status but lowest PACIC scores (n = 22), reflecting perceived lack of support. Differences across clusters were statistically significant (p < 0.001). CONCLUSIONS: Italian EGPA patients report impaired QoL and only moderate care quality, with notable heterogeneity in experiences. Personalized, multidisciplinary approaches are needed, especially for patients who feel under-supported despite moderate disease activity.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic necrotizing vasculitis characterized by eosinophilic infiltration and granuloma formation, affecting multiple organs. Gastrointestinal (GI) involvement is relatively uncommon and it typically presents with nonspecific symptoms, such as abdominal pain or diarrhea; in contrast, ulceration and intestinal perforation are rare, but potentially life-threatening complications that often require surgical intervention. The standard treatment for severe GI EGPA includes high-dose glucocorticoids combined with cyclophosphamide or rituximab (RTX). However, the perioperative escalation of glucocorticoids is generally avoided owing to the increased risk of postoperative complications. We report a case with a 5-year follow-up of EGPA resistant to multiple immunosuppressive agents with severe GI involvement, including intestinal perforation and multiple jejunal ulcers, which was successfully treated with RTX for postoperative remission induction and long-term maintenance therapy without any prednisolone escalation. The prednisolone dose was gradually reduced from 17.5 mg/day to 1 mg/day over two years without any escalation, and a sustained remission was achieved throughout the course. This case suggests that RTX may represent a viable therapeutic option for severe or treatment-resistant EGPA in cases with GI involvement when glucocorticoid escalation is undesirable or unsafe, such as in the perioperative setting.

Ear-nose-throat (ENT) involvement is common in ANCA associated vasculitis, particularly in granulomatosis with polyangiitis (GPA) and EGPA eosinophilic granulomatosis with polyangiitis (EGPA), with sinonasal manifestations frequently representing the earliest clinical features of disease (1).

BACKGROUND: Granulomatosis with Polyangiitis (GPA) is an antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis that predominantly affects the upper or lower respiratory tracts and the kidney. While otologic involvement is relatively common in GPA, isolated destructive mastoiditis as the initial manifestation is exceedingly rare, often leading to misdiagnosis. CASE PRESENTATION: A 69-year-old female presented with a 3-months history of progressive bilateral hearing loss and otorrhea. Based on clinical and radiological findings, she was initially diagnosed with acute mastoiditis but showed no response to antibiotic therapy. She subsequently underwent right sided canal-wall-up mastoidectomy; however, postoperative symptoms persisted, and pathological examination only revealed inflammatory granulation tissue. Her condition further deteriorated, with the development of contralateral ear involvement and persistent low-grade fever. Serological testing eventually showed a proteinase 3 antineutrophil cytoplasmic antibodies (PR3-ANCA) level>200 RU/mL and chest computed tomography (CT) demonstrated multiple bilateral pulmonary nodules. The patient was thus diagnosed with GPA and initiated on methylprednisolone pulse therapy, followed by rituximab (RTX). CONCLUSION: This case highlights that, in patients with refractory mastoiditis unresponsive to conventional antibiotics and surgical intervention, otolaryngologists should maintain a high index of suspicion for underlying systemic vasculitides and initiate early ANCA testing. Such measures are critical to avoid diagnostic delays and prevent irreversible organ damage.