Experience of primary intestinal lymphangiectasia in adults: Twelve case series from a tertiary referral hospital

BACKGROUND While primary intestinal lymphangiectasia(PIL)is considered a rare condition,there have been several reported cases in adults.Nevertheless,the absence of clear guidance from diagnosis to treatment and prognosis poses challenges for both physicians and patients.AIM To enhance understanding by investigating clinical presentation,diagnosis,treatment,complications,and prognoses in adult PIL cases.METHODS We enrolled adult patients diagnosed with PIL between March 2016 and September 2021.The primary outcome involved examining the diagnosis and treatment process of these patients.The secondary outcomes included identifying complications(infections,thromboembolism)and assessing prognoses(frequency of hospitalization and mortality)during the follow-up period.RESULTS Among the 12 included patients,peripheral edema(100%)and diarrhea(75%)were the main presenting complaints.Laboratory tests showed that all the pati-ents exhibited symptoms of hypoalbuminemia and hypogammaglobulinemia.Radiologically,the predominant findings were edema of the small intestine(67%)and ascites(58%).The typical endoscopic finding with a snowflake appearance was observed in 75%of patients.Among the 12 patients,two responded positive-ly to octreotide and sirolimus,and eight who could undergo maintenance therapy discontinued subsequently.Complications due to PIL led to infection in half of the patients,thromboembolism in three patients,and one death.CONCLUSION PIL can be diagnosed in adults across various age groups,with different severity and treatment responses among patients,leading to diverse complications and prognoses.Consequently,tailored treatments will be necessary.We anticipate that our findings will contribute to the management of PIL,an etiology of protein-losing enteropathy.

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

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 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.

Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report

BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics.The cause of the disease is unknown.Through a literature review,we found that PIL and tuberous sclerosis complex(TSC)have some common symptoms and molecular pathways.CASE SUMMARY Here,we present the case of a patient with a three-year history of primary intestinal lymphangiectasia.The patient most recently visited the hospital with abdominal distension and swelling of the left leg.His mother told us that she was diagnosed with TSC one year previously,which alerted us because the patient had multiple regions of pigmentation.To evaluate the condition of the child and make a definite diagnosis,multiple imaging examinations were performed,as was TSC gene analysis.The results met the diagnostic criteria for TSC.The patient was discharged after symptomatic treatment.Through a review of the literature,it can be seen that changes at the molecular gene level of TSC can lead to abnormal lymphatic vessels.CONCLUSION In summary,when patients with hypomelanotic macules or enamel hypoplasia are diagnosed with PIL,TSC gene screening may be important for further diagnosis.

Endoscopic classification and pathological features of primary intestinal lymphangiectasia

BACKGROUND The appearance of the intestinal mucosa during endoscopy varies among patients with primary intestinal lymphangiectasia(PIL).AIM To classify the endoscopic features of the intestinal mucosa in PIL under endoscopy,combine the patients’imaging and pathological characteristics of the patients,and explain their causes.METHODS We retrospectively analyzed the endoscopic images of 123 patients with PIL who were treated at the hospital between January 1,2007 and December 31,2018.We compared and analyzed all endoscopic images,classified them into four types according to the endoscopic features of the intestinal mucosa,and analyzed the post-lymphographic computed tomography(PLCT)and pathological characteristics of each type.RESULTS According to the endoscopic features of PIL in 123 patients observed during endoscopy,they were classified into four types:nodular-type,granular-type,vesicular-type,and edematous-type.PLCT showed diffuse thickening of the small intestinal wall,and no contrast agent was seen in the small intestinal wall and mesentery in the patients with nodular and granular types.Contrast agent was scattered in the small intestinal wall and mesentery in the patients with vesicular and edematous types.Analysis of the small intestinal mucosal pathology revealed that nodular-type and granulartype lymphangiectasia involved the small intestine mucosa in four layers,whereas ectasia of the vesicular-and edematous-type lymphatic vessels largely involved the lamina propria mucosae,submucosae,and muscular layers.CONCLUSION Endoscopic classification,combined with the patients’clinical manifestations and pathological examination results,is significant and very useful to clinicians when scoping patients with suspected PIL.

Primary intestinal lymphangiectasia presenting as limb convulsions:A case report

BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare protein-losing enteropathy characterized by abnormally dilated lymphatic structures,resulting in leakage of lymph(rich in protein,lymphocytes,and fat)from the intestinal mucosal and submucosal layers and thus hypoproteinemia,lymphopenia,hypolipidemia,and pleural effusion.CASE SUMMARY A 19-year-old Chinese male patient complained of recurrent limb convulsions for the last 1 year.Laboratory investigations revealed low levels of calcium and magnesium along with hypoproteinemia and high parathyroid hormone levels,whereas gastroscopy exhibited chronic non-atrophic gastritis and duodenal lymphatic dilatation.Subsequent gastric biopsy showed moderate chronic inflammatory cell infiltration distributed around a small mucosal patch in the descending duodenum followed by lymphatic dilatation in the mucosal lamina propria,which was later diagnosed as PIL.The following appropriate mediumchain triglycerides nutritional support significantly improved the patient’s symptoms.CONCLUSION Since several diseases mimic the clinical symptoms displayed by PIL,like limb convulsions,low calcium and magnesium,and loss of plasma proteins,it is imperative to conduct a detailed analysis to avoid any misdiagnosis while pinpointing the correct clinical diagnosis and simultaneously ruling out other clinical aspects in the reported cases without any past disease history.A careful assessment should always be made to ensure an accurate diagnosis in a timely manner so that the patient can be delivered quality health services for a positive health outcome.