Jaroenlapnopparat Aunchalee, Banankhah Peymaan, Khoory Joseph, Jani Chinmay, Sehra Shiv
Internal Medicine, Mount Auburn Hospital, Harvard Medical School, Cambridge, USA.
Rheumatology, Mount Auburn Hospital, Harvard Medical School, Cambridge, USA.
Cureus. 2023 Jan 31;15(1):e34479. doi: 10.7759/cureus.34479. eCollection 2023 Jan.
Granulomatosis with polyangiitis (GPA) is a rare disease with a prevalence of about three in 100,000 persons in the United States. GPA is an antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis affecting predominantly small-sized vessels. It can present with localized or systemic symptoms with multiple organ involvement, thus making diagnosis challenging. Common skin lesions in GPA are palpable purpura, petechiae, ulcers, and livedo reticularis. These lesions usually have underlying vasculitis with or without granuloma on histology findings. To date, there have been no previous reports about thrombotic vasculopathy in GPA before. We present a case of a 25-year-old female who presented with intermittent joint pain for weeks, purpuric rash, and mild hemoptysis for a few days. A review of systems was notable for a 15-pound weight loss in one year. Physical examination was significant for a purpuric rash on the left elbow and toe, and left knee swelling and erythema. Presenting laboratory results were notable for anemia, indirect hyperbilirubinemia, mildly elevated D-dimers, and microscopic hematuria. Chest radiograph revealed confluent airspace disease. Extensive infectious workup was negative. A skin biopsy of her left toe revealed dermal intravascular thrombi without evidence of vasculitis. The thrombotic vasculopathy did not favor vasculitis but raised concern for a hypercoagulable state. However, extensive hematologic workup was negative. Bronchoscopy findings were consistent with diffuse alveolar hemorrhage. Later, cytoplasmic ANCA (c-ANCA) and anti-proteinase 3 (PR3) antibody titers were positive. Her diagnosis was unclear since both skin biopsy and bronchoscopy were nonspecific and inconsistent with her positive antibody results. The patient eventually underwent a kidney biopsy, which showed pauci-immune necrotizing and crescentic glomerulonephritis. Finally, a diagnosis of granulomatosis with polyangiitis was made based on the kidney biopsy and positive c-ANCA. The patient was treated with steroids and IV rituximab and discharged home with outpatient rheumatology follow-up. Due to multiple signs and symptoms including thrombotic vasculopathy, there was a diagnostic dilemma requiring a multidisciplinary approach. This case highlights the importance of pattern recognition for the diagnostic framework of rare disease entities and the multidisciplinary collaborative efforts required to reach the final diagnosis.
肉芽肿性多血管炎（GPA）是一种罕见疾病，在美国每10万人中约有3人患病。GPA是一种抗中性粒细胞胞浆抗体（ANCA）相关的血管炎，主要影响小血管。它可表现为局部或全身症状，累及多个器官，因此诊断具有挑战性。GPA常见的皮肤病变有可触及的紫癜、瘀点、溃疡和网状青斑。这些病变在组织学检查中通常有潜在的血管炎，伴或不伴有肉芽肿。迄今为止，之前尚无关于GPA中血栓性血管病的报道。我们报告一例25岁女性，她有数周的间歇性关节疼痛、紫癜性皮疹，并有几天的轻度咯血。系统回顾显示一年内体重减轻了15磅。体格检查发现左肘部和脚趾有紫癜性皮疹，左膝肿胀和红斑。实验室检查结果显示有贫血、间接胆红素血症、D-二聚体轻度升高和镜下血尿。胸部X线片显示融合性肺实变。广泛的感染检查结果为阴性。对她左脚趾的皮肤活检显示真皮内血管血栓形成，无血管炎证据。血栓性血管病不支持血管炎，但引发了对高凝状态的担忧。然而，广泛的血液学检查结果为阴性。支气管镜检查结果与弥漫性肺泡出血一致。后来，胞浆型ANCA（c-ANCA）和抗蛋白酶3（PR3）抗体滴度呈阳性。由于皮肤活检和支气管镜检查均无特异性且与她的阳性抗体结果不一致，她的诊断尚不明确。患者最终接受了肾脏活检，结果显示寡免疫性坏死性新月体性肾小球肾炎。最后，根据肾脏活检和c-ANCA阳性，诊断为肉芽肿性多血管炎。患者接受了类固醇和静脉注射利妥昔单抗治疗，出院后由门诊风湿病科进行随访。由于包括血栓性血管病在内的多种体征和症状，存在诊断困境，需要多学科方法。本病例强调了模式识别在罕见病实体诊断框架中的重要性以及达成最终诊断所需的多学科协作努力。
