背景:原发性肠淋巴管扩张症(PIL),首次描述于1961年,是一种病因不明的罕见疾病,导致蛋白质丢失性肠病。该疾病的特征是肠淋巴管扩张和渗漏导致低白蛋白血症,低球蛋白血症,和淋巴细胞减少症。由于受影响的淋巴管的严重程度和位置可能会有很大差异,相关症状的范围广泛,从轻度下肢水肿到全身性水肿,腹腔和/或胸腔积液,反复腹泻,在其他人中。虽然通常在儿童早期发展,我们介绍了一名34岁女性PIL的病例。此外,我们进行了文献综述,系统评估临床表现,为促进成人PIL的诊断和治疗提供了一种实用的方法。
方法:我们的患者出现腹部不适的非特异性症状,疲劳,恶心,下肢反复水肿。有趣的是,临床症状与雌性激素状态明显存在明显的共线性.此外,多边形,低蛋白血症,低球蛋白血症,短暂性淋巴细胞减少明显。由于怀疑骨髓疾病,我们进行了广泛的诊断性调查,排除了多球蛋白血症和低白蛋白血症的次要原因.通过肠镜检查获得的活检样本的组织学分析,在22周后确定了原发性肠淋巴管扩张症的诊断。连续,患者接受高蛋白低脂饮食,并补充中链甘油三酯,导致临床症状显著改善,直至随访2年.
结论:PIL可能是隐源性低蛋白血症的原因,低球蛋白血症,成年后淋巴细胞减少。由于难以正确诊断,尽管治疗有效且耐受性良好,但治疗开始往往延迟.这在受影响的患者中导致显著的疾病负担。PIL在成人中越来越得到认可,因为大多数病例报告是在过去10年中发表的。指出低估了真实的患病率。与女性荷尔蒙状况的关联值得进一步调查。
BACKGROUND: Primary intestinal lymphangiectasia (PIL), first described in 1961, is a rare disorder of unknown etiology resulting in protein-losing enteropathy. The disease is characterized by dilatation and leakage of intestinal lymph vessels leading to hypoalbuminemia, hypogammaglobulinemia, and lymphopenia. Since the severity and location of lymph vessels being affected can vary considerably, the range of associated symptoms is wide from mild lower-limb edema to generalized edema, abdominal and/or pleural effusion, and recurrent diarrhea, among others. Although usually developing in early childhood, we present the case of a 34-year-old woman with PIL. Moreover, we performed a literature
review systematically assessing clinical presentation, and provide a practical approach to facilitate diagnosis and therapy of PIL in adults.
METHODS: Our patient presented with unspecific symptoms of abdominal discomfort, fatigue, nausea, and recurrent edema of the lower limbs. Interestingly, a striking collinearity of clinical symptoms with female hormone status was evident. Additionally, polyglobulia, hypoalbuminemia, hypogammaglobulinemia, and transient lymphocytopenia were evident. Due to suspicion of a bone marrow disease, an extensive diagnostic investigation was carried out excluding secondary causes of polyglobulinemia and hypoalbuminemia. The diagnosis of primary intestinal lymphangiectasia was established after 22 wk by histological analysis of biopsy samples obtained via enteroscopy. Consecutively, the patient was put on a high-protein and low-fat diet with medium-chain triglycerides supplementation leading to significant improvement of clinical symptoms until 2 years of follow-up.
CONCLUSIONS: PIL can be the reason for cryptogenic hypoalbuminemia, hypogammaglobulinemia, and lymphopenia in adulthood. Due to difficulty in correct diagnosis, treatment initiation is often delayed despite being effective and well-tolerated. This leads to a significant disease burden in affected patients. PIL is increasingly been recognized in adults since the majority of case reports were published within the last 10 years, pointing towards an underestimation of the true prevalence. The association with female hormone status warrants further investigation.