Zimba Olena, Doskaliuk Bohdana, Yatsyshyn Roman, Bahrii Mykola, Hrytsevych Marta
Department of Internal Medicine #2, Danylo Halytsky Lviv National Medical University, Lviv, Ukraine.
Academician Ye. M. Neiko Department of Internal Medicine #1, Clinical Immunology and Allergology, Ivano-Frankivsk National Medical University, Halytska str. 2, Ivano-Frankivsk, 76000, Ukraine.
Rheumatol Int. 2021 Jul;41(7):1337-1345. doi: 10.1007/s00296-021-04858-8. Epub 2021 Apr 20.
Granulomatosis with polyangiitis (GPA) is an orphan disease with multifaceted clinical presentations and delayed diagnosis. Given the risks of delayed diagnosis and treatment, improving clinicians' awareness of atypical course of this disease is critically important. The aim of this report is to analyze a case of delayed diagnosis of GPA in view of similar publications. We analyzed articles retrieved from Scopus and MEDLINE/PubMed. The following keywords were used: "granulomatosis with polyangiitis", "Wegener granulomatosis", and "diagnostic errors". All case studies that fulfilled the Chapel Hill Consensus Conference and the American College of Rheumatology GPA criteria were retrieved. We report a 71-year-old female patient with a facial defect in the nasal region, nasal congestion, and serosanguineous discharge. Her final diagnosis of GPA was reached after a series of incorrect diagnoses in the past 40 years. A deforming facial lesion developed during this period of uncertainty and absence of appropriate treatment. This patient presented with atypical features of laboratory and instrumental examinations. Anti-neutrophil cytoplasmic antibodies (ANCA) were negative, while rheumatoid factor (RF; 46.3 IU/mL) and anti-citrullinated protein antibody (ACPA; 25.6 IU/mL) were elevated. The histological analysis of the nasal mucous membrane specimen did not indicate definite signs of vasculitis. However, it revealed a granuloma with aggregation of macrophages and massive infiltration of lymphocytes, ruling out previous diagnosis of carcinoma. We analyzed delayed diagnosis of GPA in our patient in the context of 12 previously reported similar cases of limited form of GPA. We emphasize the importance of histological examination for differential diagnosis of GPA.
肉芽肿性多血管炎（GPA）是一种临床表现多样且诊断延迟的罕见病。鉴于延迟诊断和治疗的风险，提高临床医生对该病非典型病程的认识至关重要。本报告旨在结合类似文献分析一例GPA延迟诊断的病例。我们分析了从Scopus和MEDLINE/PubMed检索到的文章。使用了以下关键词：“肉芽肿性多血管炎”、“韦格纳肉芽肿”和“诊断错误”。检索了所有符合查珀尔希尔共识会议和美国风湿病学会GPA标准的病例研究。我们报告一例71岁女性患者，有鼻区面部缺损、鼻塞和血性分泌物。在过去40年中经过一系列错误诊断后，她最终被诊断为GPA。在此期间的不确定性和缺乏适当治疗过程中，出现了面部畸形病变。该患者的实验室和器械检查表现具有非典型特征。抗中性粒细胞胞浆抗体（ANCA）阴性，而类风湿因子（RF；46.3 IU/mL）和抗瓜氨酸化蛋白抗体（ACPA；25.6 IU/mL）升高。鼻黏膜标本的组织学分析未显示明确的血管炎迹象。然而，它显示出一个有巨噬细胞聚集和淋巴细胞大量浸润的肉芽肿，排除了先前的癌症诊断。我们结合之前报道的12例有限型GPA类似病例，分析了我们患者的GPA延迟诊断情况。我们强调组织学检查对GPA鉴别诊断的重要性。
