Primary Intestinal Lymphangiectasia Research Articles

Cryptoccocal menigitis as a primary manifestation in a patient with intestinal lymphangictasia

Opportunistic infections usually occur in patients with an immunocompromised state, and can be severe. Cryptoccocal meningitis is a fatal condition if left untreated, and is usually found in such patients. We report the case of an adult patient with cryptoccocal meningitis secondary to intestinal lymphangiectasia. A 30 year old female was admitted to our hospital for meningitis. Biochemical and radiological investigations were performed. A cerebrospinal fluid latex agglutination test showed positive cryptoccocal antigen. In addition, there were features of humoral and cell mediated immunity deficiency (lymphopenia, hypoalbuminemia, hypogammaglobulinemia), with a negative human immunodeficiency virus (HIV) test by enzyme linked immunosorbent assay and polymerase chain reaction. An upper gastroduodenoscopy was performed, which showed multiple lymphangiectasias, and a biopsy confirmed the diagnosis of primary intestinal lymphangiectasia (PIL). The patient was treated with intravenous amphotericin B and oral flucytosine, and the meningitis resolved. PIL should be suspected in patients with cryptoccocal meningitis, combined with humoral and cell mediated immunity with a negative HIV test. The management issues, in addition to antifungal therapy, include nutritional supplements for the protein losing enteropathy.

Late-Onset Primary Intestinal Lymphangiectasia Successfully Managed with Octreotide: A Case Report

We report a case of a patient with late-onset primary lymphangiectasia whose persistent diarrhoea was successfully managed with octreotide. A 63 year-old man visited our clinic with a complaint of worsening general edema. Gastrointestinal endoscopy revealed typical whitish jejunal villi, which suggested primary intestinal lymphangiectasia. Despite a diet, supplemented with medium-chain triglycerides; antiplasmin therapy; oral corticosteroids; and surgery, including pericardial window and lymphaticovenous anastomoses; his symptoms, including watery diarrhoea, showed no improvement. After administration of octreotide, his persistent diarrhoea resolved within a couple of days. Octreotide was continued for 2 months. Thereafter, his diarrhoea has not recurred for 6 months.

Primary intestinal lymphangiectasia

Primary intestinal lymphangiectasia is a rare disease, which is characterized by the obstruction of lymphatic return, dilated lymphatics and distorted structure of villi. Lymph fluid leaks into the small bowel lumen as a result of the obstruction of lymphatics and elevated pressure of lymphatics, and leads to malabsorption and loss of proteins. The causes and pathogenesis of PIL are not clear, hut the abnormal immunologic mechanism has got people's attention. Recently, the endoscopic technique has been improved, and the diagnosis rate of PIL has increased obviously. Antisecosis is the basic and effective treatment, especially for children. Key words: Primary intestinal lymphangiectasia; Child; Diarrhea; Edema

Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy. Patients with PIL develop hypoalbuminemia, hypocalcemia, lymphopenia and hypogammaglobulinemia, and present with bilateral lower limb edema, fatigue, abdominal pain and diarrhea. Endoscopy reveals diffusely elongated, circumferential and polypoid mucosae covered with whitish enlarged villi, all of which indicate intestinal lymphangiectasia. Diagnosis is confirmed by characteristic tissue pathology, which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi. The prevalence of PIL has increased since the introduction of capsule endoscopy. The etiology and prevalence of PIL remain unknown. Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL. We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25. The relationship between this deletion on chromosome 4 and PIL remains to be investigated.

White spots on the mucosal surface of the duodenum in dogs with lymphocytic plasmacytic enteritis

Distended lacteals, described as expanded white villi in duodenum, are strongly indicative of primary intestinal lymphangiectasia. In the present study, we evaluated the significance of white spots present in the duodenal mucosa of dogs with lymphocytic plasmacytic enteritis (LPE). Fifty dogs with LPE were included in this study, and white spots were detected in the duodenal mucosa in 22 dogs during endoscopy. Hypoproteinemia was more frequent in dogs with white spots than in dogs without spots (p = 0.02). Serum protein and albumin concentration were significantly lower in LPE dogs with white spots (p = 0.038) compared to LPE dogs without white spots (p = 0.039). There was a significant correlation between white spots density and lymphatic dilatation histological scores (p = 0.023; ρ = 0.481). These results suggest that the presence of white spots in the duodenal mucosa of dogs is not a finding exclusive for intestinal lymphangiectasia. Low serum protein and albumin concentrations together with lymphatic dilatation seem to be related to the presence of white spots in the duodenal mucosa of LPE dogs.

Clinical outcome of nutrition-oriented intervention for primary intestinal lymphangiectasia

primary intestinal lymphangiectasia (PIL) is a rare digestive disease and few studies have focused on the therapeutic effect in PIL patients. This study was undertaken to evaluate nutrition-oriented intervention in children with PIL. four children with PIL were studied. Their medical records were reviewed. Anthropometric measurements and blood tests were performed during a 8-18 month follow-up. during hospitalization, the 4 patients were subjected to diet intervention. Parenteral nutrition (PN) support was also given to 3 of them. Clinical symptoms and laboratory parameters of the patients were significantly improved at discharge. After discharge, the patients continued diet control, 2 of whom received intermittent PN support. The mean follow-up duration of the 4 patients was 13 months (range, 8-18 months) and they all kept in a stable condition without symptoms relapse. Weight, height and body mass index for age were normal during the follow-up, while total protein, albumin and immunoglobulin concentrations were still slightly below normal level. nutrition therapy is effective as a valid and safe therapeutic management for PIL patients. No growth retardation was observed in the 4 children after the therapy, but they are still at risk of nutrient malabsorption. Therefore, they need long-term, regular monitoring and intensive nutritional care.

A rare case of primary intestinal lymphangiectasia diagnosed by double balloon endoscopy

A rare case of primary intestinal lymphangiectasia diagnosed by double balloon endoscopy

Intestinal lymphangiectasia presenting with duodeno-jejunal polyposis: enteroscopic findings

ture was referred by the orthopedic department at our hospital for severe hypoproteinemia. The patient had been diagnosed as having primary intestinal lymphangiectasia at the age of 25. Under capsule endoscopy, numerous filiformlike polyps with whitish villi were observed from the distal duodenum to the jejunum (● Fig. 1a) with exudation of a chylous substance from the mucosal surface (● Fig. 1b). These became obscure as the capsule advanced, with diminutive whitish spots or mosaic mucosal patterns as the only findings in the middle and the distal part of the small bowel. Oral double-balloon endoscopy (DBE) also identified numerous filiform-like polyps as well as diminutive whitish spots in the distal duodenum and in the jejunum (● Fig. 2). Histologic examination of the biopsy specimens taken from the whitish mucosa showed obviously dilated lymphatics in the lamina propria mucosa (● Fig. 3), compatible with the diagnosis of intestinal lymphangiectasia. In intestinal lymphangiectasia, dilated lymphatic vessels in the intestinal wall are usually seen as diminutive whitish spots or whitish reticular mucosal pattern [1]. However, unusual endoscopic findings, similar to our case, have been recently reported in patients with markedly dilated lymphatic vessels in the submucosa [2]. It thus seems possible that the observed multiple polyposis-like pattern is an endoscopic feature of an advanced stage of intestinal lymphangiectasia. Small intestinal polyps are found in various intestinal pathologies, such as familial adenomatous polyposis [3], CronkhiteCanada syndrome [4], and multiple lymphomatous polyposis [5]. Our endoscopic findings suggest that intestinal lymphangiectasia should be considered among the differential diagnoses in patients with small intestinal polyps found by capsule endoscopy or DBE. On such occasions, alterations in the surrounding mucosa characterized by whitish villi and chylous exudates could be indicative of intestinal lymphangiectasia.

Primary Intestinal Lymphangiectasia in Children: Is Octreotide an Effective and Safe Option in the Treatment?

Octreotide has been suggested as a medical treatment option in refractory cases of primary intestinal lymphangiectasia (IL). There are few data about the long-term effect and safety of octreotide for IL in the literature. In the present article we analyzed pediatric cases of primary IL with long-term octreotide treatment and discussed its safety profile. Between 1999 and 2008, 13 children were diagnosed in our clinic as having IL. Six patients with primary IL were followed up, receiving octreotide therapy. The clinical data of the patients and duration of therapy, dose, and side effects of octreotide were evaluated. Octreotide, 15 to 20 μg per body weight 2 times daily subcutaneously, was given to all of the patients. Duration of the octreotide treatment changed between 3 and 37 months. Stool frequency decreased in all of the patients after starting octreotide treatment. Serum albumin could be maintained at normal levels in 3 patients. The requirement of albumin infusions decreased in all of the patients. Acute pancreatitis was observed as a side effect of octreotide in 1 patient. Octreotide may help to maintain serum albumin levels, improve clinical findings, and decrease the requirement of albumin infusions in refractory cases of primary IL.

Digital clubbing in primary intestinal lymphangiectasia: a case report

Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. The symptoms usually start in early infancy. We report a case of secondary hyperparathyroidism, osteopenia, monoclonal gammopathy and digital clubbing in a 57-year-old patient with a 12-year history of discontinuous diarrhea. Malabsorption with inability to gain weight, and finally weight loss and formation of leg edema were associated with protein-losing enteropathy. A low-fat diet associated with medium-chain triglyceride supplementation was clinically effective as medical management in reducing diarrhea and leg edema, and promoting weight gain. Double-balloon enteroscopy and small bowel biopsy histopathology confirmed dilated intestinal lacteals. Digital clubbing associated with primary intestinal lymphangiectasia which may causally be related to chronic platelet excess has not been reported before.

Clinical practice

Protein-losing enteropathy (PLE) is a rare complication of a variety of intestinal disorders characterized by an excessive loss of proteins into the gastrointestinal tract due to impaired integrity of the mucosa. The clinical presentation of patients with PLE is highly variable, depending upon the underlying cause, but mainly consists of edema due to hypoproteinemia. While considering PLE, other causes of hypoproteinemia such as malnutrition, impaired synthesis, or protein loss through other organs like the kidney, liver, or skin, have to be excluded. The disorders causing PLE can be divided into those due to protein loss from intestinal lymphatics, like primary intestinal lymphangiectasia or congenital heart disease and those with protein loss due to an inflamed or abnormal mucosal surface. The diagnosis is confirmed by increased fecal concentrations of alpha-1-antitrypsin. After PLE is diagnosed, the underlying cause should be identified by stool cultures, serologic evaluation, cardiac screening, or radiographic imaging. Treatment of PLE consists of nutrition state maintenance by using a high protein diet with supplement of fat-soluble vitamins. In patients with lymphangiectasia, a low fat with medium chain triglycerides (MCT) diet should be prescribed. Besides dietary adjustments, appropriate treatment for the underlying etiology is necessary and supportive care to avoid complications of edema. PLE is a rare complication of various diseases, mostly gastrointestinal or cardiac conditions that result into loss of proteins in the gastrointestinal tract. Prognosis depends upon the severity and treatment options of the underlying disease.

Primary Intestinal Lymphangiectasia: Four Case Reports and a Review of the Literature

Primary intestinal lymphangiectasia (PIL) is a rare digestive disease and most articles on this condition are isolated case reports. Our purpose is to investigate the clinical characteristics, therapeutic management, and outcome of PIL through case studies. We conducted a retrospective analysis and obtained detailed clinical information for four PIL patients treated at our institution. A MEDLINE database search was also performed using the search term "intestinal lymphangiectasia" and all pertinent literature was carefully reviewed. Four children treated in our department showed elevated IgE and a good response to diet intervention. After reviewing the literature, we conducted statistical analysis on the basis of all the cases, with a total of 84 cases. Thirty-eight cases have been reported with diet treatment, 24 (63%) of whom showed apparent improvement in clinical symptoms and laboratory parameters. Four cases (5%) had a malignant transformation of lymphoma, and the average time from PIL onset to lymphoma diagnosis was 31 years (range, 19-45 years). No difference was observed regarding the presence of major clinical manifestations among children and adults. Diet intervention in children was more effective than that in adults. Diet intervention is the cornerstone of PIL medical management, which was found to be more effective in children than in adults. Early diagnosis and treatment of IL is of great importance for effective diet therapy. An elevated IgE level should be monitored periodically since it could be an indication of malignant transformation-lymphoma.

Partial enterectomy: treatment for primary intestinal lymphangiectasia in four cases

Partial enterectomy: treatment for primary intestinal lymphangiectasia in four cases

Treatment with Parenteral Nutrition Support and Chinese Herbs in One Case of Primary Small Intestinal Lymphangiectasia

Treatment with Parenteral Nutrition Support and Chinese Herbs in One Case of Primary Small Intestinal Lymphangiectasia

Primary intestinal lymphangiectasia successfully treated by segmental resections of small bowel

Primary intestinal lymphangiectasia is a rare cause of protein-losing enteropathy and usually presents with intermittent diarrhea or malnutrition. Diagnosis depends largely on its pathologic condition demonstrating greatly dilated lymphatics mainly in the lamina propria of the mucosa. We report a case of primary intestinal lymphangiectasia, of the diffuse type, presenting with abdominal pain and voluminous diarrhea in a previously healthy 8-year-old boy. He had periumbilical pain for 3 months before presentation. He was managed by segmental bowel resections and end-to-end anastomoses. The histopathologic condition of the resected small intestine showed lymphatic dilation limited mainly to the subserosa and mesentery but was not prominent in the mucosa. Abdominal pain and diarrhea subsided postoperatively. The present case is the fourth report describing a response to operative resection.

Hypocalcemia and Tetany Caused by Vitamin D Deficiency in a Child With Intestinal Lymphangiectasia

Primary intestinal lymphangiectasia is a rare disease of children, which is characterized by chronic diarrhea and complicated with malnutrition, including fat-soluble vitamin deficiency. We report a girl aged 4 years and 8 months who was diagnosed with the disease by endoscopic duodenal biopsy at 8 months of age. She presented initially with chronic diarrhea at 4 months of age. Generalized edema with hypoalbuminemia frequently occurred despite regular albumin supplements. Multiple vitamins initially were not supplied regularly. Episodes of tetany caused by hypocalcemia developed 4 years after the diagnosis of intestinal lymphangiectasia. Imaging study (long-bone X-ray and dual-energy X-ray absorptiometry) revealed low bone density. Complicated vitamin D deficiency [low serum 25-hydroxy vitamin D concentration (< 12.48 mmol/L, the detection limit)] and secondary hyperparathyroidism were confirmed via blood testing. Vitamin D supplementation for 3 months improved her bone density, secondary hyperparathyroidism and frequent tetany. Vitamin D status should be monitored in patients with intestinal lymphangiectasia.

Primary Intestinal Lymphangiectasia in an Infant with a History of Cowʼs Milk Protein Allergy—A Case Report

Purpose: An unusual case of an infant who presented to our institution with a history of failure-to-thrive, cow's milk protein (CMP) allergy, and chronic diarrhea. Methods: Descriptive report. Results: 11-month-old African-American girl with failure-to-thrive and chronic diarrhea was transferred to our institution from an outside hospital. She had previously been clinically diagnosed with CMP allergy. On admission, she appeared extremely malnourished with a distended abdomen. Initial evaluation revealed severe hypoalbuminemia, hypogammaglobulinemia, hyper-IgE, and low levels of CD4 lymphocytes. Her stools were voluminous with increased alpha-1-antitrypsin. Upper and lower endoscopies were notable for diffuse, white lesions of her small bowel (Figure 1). Histology and electron microscopy (EM) showed dilated lymphatic ducts and large fat droplets, respectively (Figures 2 and 3). An unusual enteropathy included architectural distortion of her villi, described as “stubby” and atrophic, a thin brush-border membrane (Figure 4), and a mixed-cellular infiltrate of eosinophils, lymphocytes, and PMNs (Figure 5). Colonic histology was significant for eosinophilic colitis (Figure 6). Abdominal CT revealed bowel wall edema, but was otherwise unremarkable. Celiac serology and genetic markers were negative. Clinical status markedly improved on parenteral nutrition.Figure 1: Snow-white mucosal lesions in terminal ileum.Figure 3: EM showing large fat droplets within mucosa of small bowel.Conclusion: This is the first case report of primary intestinal lymphangiectasia in association with mixed-cellular enteropathy and clinical history of CMP allergy.

Evidence for Medium Chain Triglycerides in the Treatment of Primary Intestinal Lymphangiectasia

Primary intestinal lymphangiectasia is an uncommon congenital anomaly. It is an intrinsic abnormality of the intestinal lymphatics system. Over the years, various treatment options such as diuretics, albumin transfusions and a medium chain triglycerides (MCT) diet as well as surgical options such as resection of isolated segments and peritoneal-venous shunts have been used. An MCT diet, which is a low fat, high protein diet, is increasingly used in the management of this anomaly. The aim was to review the evidence for medium chain triglycerides as a therapeutic option in patients with primary intestinal lymphangiectasia. A literature search was performed and individual case details were extracted. We found 55 cases, of which 3 were from our own institute. The cases were divided in 2 groups: Group A (n=27) consisted of patients treated with MCT, and Group B (n=28) consisted patients not treated with MCT. Cases were analysed for symptomatic response to MCT as well as mortality. 17 of 27 cases (63%) treated with MCT had complete resolution of symptoms while only 10 of 28 (35.7%) patients in group B showed complete resolution. Mortality for Group A was 1 out of 27 (3.7%), while mortality in group B was 5 of 28 (17.85%) patients. We conclude that, although an MCT diet is not completely curative in all cases, it does improve the symptoms of primary intestinal lymphangiectasia and reduces mortality. Hence it is a valid option in the paediatric age group.

Increased surface receptor Fas (CD95) levels on CD4+ lymphocytes in patients with primary intestinal lymphangiectasia

Objective. Exudative enteropathy secondary to primary intestinal lymphangiectasia (PIL) is characterized by lymphopenia, hypogammaglobulinemia and hypoalbuminemia resulting from leakage of lymph fluid into the intestinal tract. The objective of this study was to better characterize the lymphopenia of PIL-confirmed patients. Material and methods. T-cell markers and T-cell proliferation/capacities (differentiation, activation and death) were analyzed for phenotype in 9 patients (6 F, 3 M, aged from 18 to 72 years). Results. Mean counts of CD4 and CD8 subsets were significantly decreased, 174±123/µl and 134±77/µl compared with controls, 858±260/µl and 482±164/µl, respectively (p<0.0001). Significant depletion of naïve (CD45RA+ CD62L+) CD4+ T cells was noted, with a mean expression of 7±4% compared with controls, 45±1% (p<0.0001). Both CD4+ and CD8+ T-cell mean subsets were activated as assessed by their proportion expressing the late activation markers HLA-DR, 18±7% and 19±9% compared with controls, 6±3% and 10±6%, respectively (p<0.0001 and p<0.01). The mean expression of CD95/Fas on CD4+ T cells was significantly higher in patients than in controls, 83±16% versus 45±13% (p<0.0001). No major abnormality of T-cell proliferation/capacities was observed. Conclusions. Our results suggest that the T-cell loss in PIL patients is probably due to various mechanisms including enteric lymphocytes loss and activation of residual T cells, leading to death. Moreover, this loss is not compensated by a sufficient increase in T-cell thymic production.

Primary intestinal lymphangiectasia (Waldmann's disease)

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. PIL is generally diagnosed before 3 years of age but may be diagnosed in older patients. Prevalence is unknown. The main symptom is predominantly bilateral lower limb edema. Edema may be moderate to severe with anasarca and includes pleural effusion, pericarditis or chylous ascites. Fatigue, abdominal pain, weight loss, inability to gain weight, moderate diarrhea or fat-soluble vitamin deficiencies due to malabsorption may also be present. In some patients, limb lymphedema is associated with PIL and is difficult to distinguish lymphedema from edema. Exsudative enteropathy is confirmed by the elevated 24-h stool α1-antitrypsin clearance. Etiology remains unknown. Very rare familial cases of PIL have been reported. Diagnosis is confirmed by endoscopic observation of intestinal lymphangiectasia with the corresponding histology of intestinal biopsy specimens. Videocapsule endoscopy may be useful when endoscopic findings are not contributive. Differential diagnosis includes constrictive pericarditis, intestinal lymphoma, Whipple's disease, Crohn's disease, intestinal tuberculosis, sarcoidosis or systemic sclerosis. Several B-cell lymphomas confined to the gastrointestinal tract (stomach, jejunum, midgut, ileum) or with extra-intestinal localizations were reported in PIL patients. A low-fat diet associated with medium-chain triglyceride supplementation is the cornerstone of PIL medical management. The absence of fat in the diet prevents chyle engorgement of the intestinal lymphatic vessels thereby preventing their rupture with its ensuing lymph loss. Medium-chain triglycerides are absorbed directly into the portal venous circulation and avoid lacteal overloading. Other inconsistently effective treatments have been proposed for PIL patients, such as antiplasmin, octreotide or corticosteroids. Surgical small-bowel resection is useful in the rare cases with segmental and localized intestinal lymphangiectasia. The need for dietary control appears to be permanent, because clinical and biochemical findings reappear after low-fat diet withdrawal. PIL outcome may be severe even life-threatening when malignant complications or serous effusion(s) occur.