Primary intestinal lymphangiectasia in an adult patient:A case report and review of literature  

作　　者：Rudolf Huber Georg Semmler Alexander Mayr Felix Offner Christian Datz 

机构地区：[1]Department of Internal Medicine,General Hospital Oberndorf,Teaching Hospital of the Paracelsus Medical University Salzburg,Oberndorf 5110,Austria [2]Department of Pathology,General Hospital Feldkirch,Feldkirch 6800,Austria

出　　处：《World Journal of Gastroenterology》2020年第48期7707-7718,共12页世界胃肠病学杂志（英文版）

摘　　要：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-yearold 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.CASE SUMMARY 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.CONCLUSION 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 welltolerated.This leads to a significant disease burden in affected patients.PIL is increasingly been recognized in adults since the majority of case

关 键 词：Primary intestinal lymphangiectasia Waldmann´s disease Protein losing enteropathy HYPOPROTEINEMIA Case report 

分 类 号：R574[医药卫生—消化系统]