Townsend Jaiden, Alluhibi Reem, Lynch Nicky, Woolf Richard, Marshall Aileen, Lomas David A, Hurst John R
UCL Respiratory, University College London, London, United Kingdom.
Department of Respiratory Care, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
PLoS One. 2025 Jun 26;20(6):e0326686. doi: 10.1371/journal.pone.0326686. eCollection 2025.
Alpha-1 Antitrypsin Deficiency (AATD)-associated panniculitis is a rare inflammatory condition characterized by painful subcutaneous plaques or nodules, often accompanied by ulceration or oily discharge. Despite its clinical and emotional burden, limited data exist on the lived experiences of individuals with this condition.
An international online survey was conducted between April and July 2024, targeting individuals with AATD-associated panniculitis. The survey, co-designed with an affected individual and multi-disciplinary specialists, included 32 questions on demographics, diagnostic journey, life impact, and treatments. Responses were analysed using descriptive statistics and thematic analysis.
41 responses were included in the analysis (68% female; mean age 52.3 years). Participants reported lesions at diverse sites, affecting the lower and upper limbs, followed by the trunk, buttocks, and genitalia. 41.5% experienced both ulceration and oily discharge. 61% of participants reported being misdiagnosed which negatively affected their mental health. More than half of respondents 'strongly agreed' or 'agreed' that living with alpha-1 panniculitis had made them anxious. Access to specialist care was a major concern, with 69% finding it difficult to obtain specialist advice. Treatments varied, and augmentation therapy was identified as the subjectively the most effective. Open-ended responses revealed gaps in healthcare professionals' awareness and highlighted the need for better mental health support and specialist access.
AATD-associated panniculitis significantly impacts physical, emotional, and social well-being. Addressing gaps in diagnosis and treatment, increasing healthcare providers awareness, and adopting multidisciplinary approaches are essential to improve individuals' outcomes and quality of life.
α-1抗胰蛋白酶缺乏症（AATD）相关的脂膜炎是一种罕见的炎症性疾病，其特征为疼痛性皮下斑块或结节，常伴有溃疡或油性分泌物。尽管它给患者带来了临床和情感负担，但关于患有这种疾病的个体的生活经历的数据有限。
2024年4月至7月进行了一项国际在线调查，目标是患有AATD相关脂膜炎的个体。该调查由一名受影响的个体和多学科专家共同设计，包括32个关于人口统计学、诊断过程、生活影响和治疗的问题。使用描述性统计和主题分析对回复进行分析。
41份回复纳入分析（68%为女性；平均年龄52.3岁）。参与者报告病变位于不同部位，影响下肢和上肢，其次是躯干、臀部和生殖器。41.5%的人同时经历了溃疡和油性分泌物。61%的参与者报告曾被误诊，这对他们的心理健康产生了负面影响。超过一半的受访者“强烈同意”或“同意”患有α-1脂膜炎让他们感到焦虑。获得专科护理是一个主要问题，69%的人发现很难获得专科建议。治疗方法各不相同，增强疗法被认为是主观上最有效的。开放式回复揭示了医疗保健专业人员认识方面的差距，并强调了更好的心理健康支持和获得专科护理的必要性。
AATD相关脂膜炎对身体、情感和社会福祉有显著影响。解决诊断和治疗方面的差距、提高医疗保健提供者的认识并采用多学科方法对于改善个体的治疗效果和生活质量至关重要。
