Pneumology Department, Military Hospital of Tunis, Montfleury, Tunis, 1008, Tunisia.
Neurology Department, Military Hospital of Tunis, Montfleury, Tunis, 1008, Tunisia.
F1000Res. 2023 Aug 21;11:1439. doi: 10.12688/f1000research.127299.2. eCollection 2022.
Pulmonary alveolar proteinosis is a very rare diffuse lung disease characterized by the accumulation of amorphous and periodic acid Schiff-positive lipoproteinaceous material in the alveolar spaces due to impaired surfactant clearance by alveolar macrophages. Three main types were identified: Autoimmune, secondary and congenital. Pulmonary alveolar proteinosis has been previously reported to be associated with several systemic auto-immune diseases. Accordingly, we present the first case report of pulmonary alveolar proteinosis associated with myasthenia gravis. A 27-year-old female patient, ex-smoker, developed a dyspnea on exertion in 2020. The chest X-ray detected diffuse symmetric alveolar opacities. Pulmonary infection was ruled out, particularly COVID-19 infection. The chest scan revealed the "crazy paving" pattern. The bronchoalveolar lavage showed a rosy liquid with granular acellular eosinophilic material Periodic acid-Schiff positive. According to the lung biopsy results, she was diagnosed with pulmonary alveolar proteinosis. The granulocyte macrophage colony-stimulating factor autoantibodies were negative. Nine months later, she was diagnosed with bulbar seronegative myasthenia gravis, confirmed with the electroneuromyography with repetitive nerve stimulation showing significant amplitude decrement of the trapezius and spinal muscles. She was treated with pyridostigmine, oral corticosteroids and azathioprine. Given the worsening respiratory condition of the patient, a bilateral whole lung lavage was performed with a partial resolution of symptoms. Thus, this previously unreported association was treated successfully with rituximab, including improvement of dyspnea, diplopia and muscle fatigability at six months of follow-up. This case emphasizes on the possible association of auto-immune disease to PAP, which could worsen the disease course, as the specific treatment does not exist yet. Hence, further studies are needed to establish clear-cut guidelines for PAP management, particularly when associated to auto-immune diseases.
肺泡蛋白沉积症是一种非常罕见的弥漫性肺部疾病，其特征是由于肺泡巨噬细胞清除表面活性剂功能受损，肺泡腔内积聚无定形和过碘酸雪夫阳性脂蛋白物质。已确定有三种主要类型：自身免疫性、继发性和先天性。肺泡蛋白沉积症以前曾与几种自身免疫性疾病有关。因此，我们报告了首例与重症肌无力相关的肺泡蛋白沉积症病例。
一名 27 岁的女性患者，曾吸烟，于 2020 年出现劳力性呼吸困难。胸部 X 线检查显示弥漫性对称肺泡混浊。排除了肺部感染，特别是 COVID-19 感染。胸部扫描显示“疯狂铺路”模式。支气管肺泡灌洗显示粉红色液体，有颗粒状无细胞嗜酸性物质过碘酸雪夫阳性。根据肺活检结果，她被诊断为肺泡蛋白沉积症。粒细胞巨噬细胞集落刺激因子自身抗体阴性。九个月后，她被诊断为球部血清阴性重症肌无力，电神经肌图和重复神经刺激显示斜方肌和脊柱肌的振幅明显降低，得到了确认。她接受了吡啶斯的明、口服皮质类固醇和硫唑嘌呤治疗。鉴于患者的呼吸状况恶化，进行了双侧全肺灌洗，症状部分缓解。因此，在没有明确的治疗方法的情况下，利妥昔单抗成功治疗了这种以前未报道过的关联，包括呼吸困难、复视和肌肉疲劳的改善，在 6 个月的随访中得到了改善。
该病例强调了自身免疫性疾病与 PAP 之间可能存在关联，这可能会使疾病进程恶化，因为目前尚无特异性治疗方法。因此，需要进一步研究以建立 PAP 管理的明确指南，特别是当与自身免疫性疾病相关时。
