Primary Intestinal Lymphangiectasia Research Articles

Endoscopic Diagnosis of Primary Intestinal Lymphangiectasia in an Adult With Refractory Protein-Losing Enteropathy: A Case Report

Endoscopic Diagnosis of Primary Intestinal Lymphangiectasia in an Adult With Refractory Protein-Losing Enteropathy: A Case Report

Hypocalcaemic tetany linked to vitamin D deficiency and hypomagnesemia in primary intestinal lymphangiectasia: a literature review.

Primary intestinal lymphangiectasia (PIL) is a rare disorder in children causing protein-losing enteropathy. Vitamin D deficiency and hypomagnesemia contributed to the tetany. The literature review reflects the importance of screening for these deficiencies and regular serum magnesium monitoring in PIL cases with neuromuscular or ionic abnormalities.

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

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. To enhance understanding by investigating clinical presentation, diagnosis, treatment, complications, and prognoses in adult PIL cases. 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. Among the 12 included patients, peripheral edema (100%) and diarrhea (75%) were the main presenting complaints. Laboratory tests showed that all the patients 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 positively 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. 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.

Cryptococcal meningitis and cerebral vasculitis in a patient with primary intestinal lymphangiectasia: a case report.

Primary intestinal lymphangiectasia (Waldmann's disease) is a rare exudative enteropathy without precisely assessed infectious risk. We report the case of a 49-year-old male patient with meningitis and cerebral vasculitis due to Cryptococcus neoformans complicating Waldmann's disease diagnosed 12years ago. The treatment combined liposomal amphotericin B, 3mg/kg daily plus flucytosine 25mg/kg/6h, both intravenously during 15days, then fluconazole 800mg daily during 8weeks, and finally 200mg daily indefinitely. Dexamethasone 0.4mg/kg daily during the first week was gradually decreased over 2months. The outcome was good, and the patient is still followed 3years later without any recurrence.

Primary Intestinal Lymphangiectasia Diagnosed by Capsule Endoscopy

Primary intestinal lymphangiectasia (PIL) is a rare disorder in children and it is more exceptional in adults. PIL is caused by a diffuse or localized dilatation and/or rupture of intestinal lymphatic vessels in the mucosa, submucosa, or subserosa due to high pressure in lymphatic vessels. The diagnosis is made on clinical grounds with the support of small bowel biopsies. The following report present a case of intestinal lymphangiectasia revealed by capsule endoscopy examination. This work shows that standard EGD and colonoscopy may miss characteristic lesions of PIL, and capsule endoscopy (or enteroscopy) may be required for the diagnosis because lesions are typically located in distal duodenum/jejunoileum.

Correlation between capsule endoscopy classification and CT lymphangiography of primary intestinal lymphangiectasia

To investigate the correlation between capsule endoscopy (CE) classification of primary intestinal lymphangiectasia (PIL) and computed tomography (CT) lymphangiography (CTL). A total of 52 patients with diagnosed PIL were enrolled. All patients were examined using CTL and small intestinal CE before surgery. CE assessments included the morphology, scope, colour, and size of lesions. CTL assessments included intestinal wall, lymphatic vessel dilatation, lymph fluid reflux, and lymphatic fistula. Patients were divided into three groups according to type diagnosed by CE, and the CTL characteristics were analysed among the groups. CE showed 15 patients with type I, 27 with II, and 10 with type III. Intestinal wall thickening was observed in 15 type I, 21 type II, and seven type III. Pericardial effusion was observed in only three type I patients; the difference among types was statistically significant (p=0.02). Abnormal contrast agent distribution in the intestinal wall and mesentery was observed in 15 type II patients, and the difference was significantly greater than that of types I and III (p=0.02). Abnormal contrast agent distribution in the abdominal cavity was observed in 12 type II, and the difference was statistically significant (p=0.03). The CE PIL classification reflects the extent and scope of intestinal mucosa lesions; CTL more systematically demonstrates abnormal lymphatic vessels or reflux, and its manifestations of PIL are related to the CE classification. The combination of CTL with CE is useful for accurately evaluating PIL, and provides guidance for preoperative assessment and treatment management of PIL patients.

Lymphopenia: a clue to diagnose primary intestinal lymphangiectasia

Primary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy characterized by dilatation of the intestinal lymphatics and loss of lymph fluid into the gastrointestinal tract, leading to the development of hypoproteinaemia, oedema, lymphocytopenia, hypogammaglobinaemia, and immunologic abnormalities. We report a series of 4 children from Bangalore, India presenting with anasarca, diarrhoea, and hypoproteinaemia. All four patients were confirmed to have of PIL on histopathology. We retrospectively reviewed the case records of children diagnosed with primary intestinal lymphangiectasia presenting to department of pediatric gastroenterology within the time frame of July 2015 to September 2018. Four patients were diagnosed with primary intestinal lymphangiectasia. All of them presented with features of protein losing enteropathy (generalized oedema, ascites and low albumin), chronic diarrhoea, lymphopenia, hypercalcemia, and hypogammaglobulinemia. Endoscopically mucosa was normal in two patients and showed Snowflake appearance in other 2 patients. Intestinal biopsies were characteristic of lymphangiectasia in all four patients.

Endoscopic classification and pathological features of primary intestinal lymphangiectasia.

BACKGROUNDThe appearance of the intestinal mucosa during endoscopy varies among patients with primary intestinal lymphangiectasia (PIL).AIMTo 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.METHODSWe 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.RESULTSAccording 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 granular-type 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. CONCLUSIONEndoscopic classification, combined with the patients’ clinical manifestations and pathological examination results, is significant and very useful to clinicians when scoping patients with suspected PIL.

Modern Treatment Principles for Children with Primary Intestinal Lymphangiectasia: Observational Studies Systematic Review

Background. Primary intestinal lymphangiectasia (PIL) is severe and rare disease with poor prognosis. Its management is complex due to the lack of clinical guidelines (both Russian and international). Therefore, consideration of modern principles of this pathology treatment is still crucial, it also can improve the quality and life expectancy in these patients.Objective. The aim of the study is to schematize and unify all relevant data on PIL cases over the past 10 years, to identify modern treatment principles for provision of timely medical car. Methods. Systematic review of publications from 2011 to 2021 in PubMed database was performed. Clinical cases, observational studies, and literature reviews were included.Results. Nutrition therapy in the treatment of PIL has many advantages and it is the firstline therapy. However, modern medicine allows to help children with this pathology via somatostatin group drugs, immunosuppressants, and surgery in case of insufficient nutrition correction.Conclusion. Primary intestinal lymphangiectasia has certain scientific interest in pediatricians and gastroenterologists’ practice. Understanding of the disease, its early diagnosis and pathological process localization allow us to choose the correct diet, to determine the need for surgical intervention, and to prescribe targeted drug therapy.

Primary intestinal lymphangiectasia: a rare disease as a cause of protein-losing enteropathy.

Primary intestinal lymphangiectasia is a rare disorder associated with protein-losing enteropathy. The main manifestations are those resulting from hypoalbuminemia. Diagnosis requires the typical endoscopic image of intestinal lymphangiectasia and increased 24-hour fecal alpha-1-antitrypsin clearance. Treatment is basically dietary.

Yellow Nail Syndrome: An Unusual Cause of Pleural Effusion

Yellow Nail Syndrome (YNS) is a rare clinical syndrome charecterised by the classical triad of thickened and dystrophic yellow nails, pleural effusion and primary lymphoedema. It usually occurs in older adults of over 50 years but there is no sex predilection. This was a case report of a 21-year-old male, who presented with dyspnea on exertion, dry cough and abdominal distension for past 15 days and bilateral lower limb swelling for past two years. On general examination, patient had pallor with bilateral non pitting oedema of lower limbs and had yellow thick and dystrophic nails. There was clinical evidence of pleural effusion and ascites. Pleural fluid analysis showed lymphocytic and exudative picture with low Lactate Dehydrogenase (LDH) and Adenosine Deaminase (ADA) levels and was negative for malignancy. Duodenum Second part (D2) biopsy showed Primary Intestinal Lymphangiectasia (PIL). Hence, a final diagnosis of yellow nail syndrome was confirmed. Symptomatic management was done following which patient had relief of symptoms and in subsequent follow-ups patient was doing better. A detailed clinical history with investigations helps in attaining the diagnosis. Although there is no definitive treatment but diagnosis helps in avoiding unnecessary treatment and symptom based management helps in improving the quality of life of the patient.

A case of primary intestinal lymphangiectasia with non-Hodgkin lymphoma

BackgroundPrimary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by the loss of proteins, lymphocytes, and immunoglobulins into the intestinal lumen. Increasing evidence has demonstrated an association between PIL and lymphoma.Case presentationA 54-year-old man with a 20-year history of abdominal distension and bilateral lower limb edema was admitted. Laboratory investigations revealed lymphopenia, hypoalbuminemia, decreased triglyceride and cholesterol level. Colonoscopy showed multiple smooth pseudo polyps in the ileocecal valve and terminal ileum and histological examination showed conspicuous dilation of the lymphatic channels in the mucosa and submucosa. A diagnosis of PIL was made. Three years later colonoscopy of the patient showed an intraluminal proliferative mass in the ascending colon and biopsy examination confirmed a malignant non-Hodgkin lymphoma. Then the patient was been underwent chemotherapy, and his clinical condition is satisfactory.ConclusionOur report supports the hypothesis that PIL is associated with lymphoma development.

Primary intestinal lymphangiectasia in children: Twelve years of experience in the diagnosis and management.

Primary Intestinal Lymphangiectasia (PIL) is a rare congenital and digestive disease, which could present through a broad spectrum of clinical manifestations, diagnostic and treatment management. The aim of this study was to introduce the diagnosis and nutrition treatment of children with PIL through the twelve years of experience. The patients diagnosed with PIL admitted to the Department of Gastroenterology and Nutrition in Xinhua Hospital from June 2006 to September 2017 were included in the study. Ten patients were found to have PIL, and 5 of them were male. The mean age was 66 months at the time of diagnosis and 11 months at onset. The main clinical manifestations were diarrhea, edemas and abdominal distention. Marked dilatation of the intestinal lymphatic vessels was the characteristic of the endoscopic. All the patients presented with hypoproteinemia and hypoimmunoglobulinia. Six of them were treated with parenteral nutrition, and 9 of them were treated with a low-long-chain triglycerides (LCT), high-protein diet supplemented with medium-chain triglycerides (MCT). The clinical symptoms of the patients have improved after the MCT diet therapy. PIL should be considered first when there are clinical manifestations of chronic diarrhea, edema and abdominal distention, and biochemical results indicated the hypoproteinemia and hypoimmunoglobulinia, and the general treatment is invalid. Gastroscopy and E-colonoscopy with biopsies are the preferred method of diagnosis. Diet intervention (MCT diet) is the cornerstone and longtime medical treatment, which can improve the nutritional status and promote the survival quality of patients with PIL.

Dynamic Contrast Magnetic Resonance Lymphangiography Localizes Lymphatic Leak to the Duodenum in Protein-Losing Enteropathy.

Protein-losing enteropathy (PLE) is a disorder of intestinal lymphatic flow resulting in leakage of protein-rich lymph into the gut lumen. Our primary aim was to report the imaging findings of dynamic contrast magnetic resonance lymphangiography (DCMRL) in patients with PLE. Our secondary objective was to use these imaging findings to characterize lymphatic phenotypes. Single-center retrospective cohort study of patients with PLE unrelated to single-ventricle circulation who underwent DCMRL. We report imaging findings of intranodal (IN), intrahepatic (IH), and intramesenteric (IM) access points for DCMRL. Nineteen patients 0.3-58 years of age (median 1.2 years) underwent 29 DCMRL studies. Primary intestinal lymphangiectasia (PIL) was the most common referring diagnosis (42%). Other etiologies included constrictive pericarditis, thoracic insufficiency syndrome, and genetic disorders. IN-DCMRL demonstrated a normal central lymphatic system in all patients with an intact thoracic duct and localized duodenal leak in one patient (1/19, 5%). IH-DCMRL detected a duodenal leak in 12 of 17 (71%), and IM-DCMRL detected duodenal leak in 5 of 6 (83%). Independent of etiology, lymphatic leak was only visualized in the duodenum. In patients with PLE, imaging via DCMRL reveals that leak is localized to the duodenum regardless of etiology. Comprehensive imaging evaluation with three access points can provide detailed information about the site of duodenal leak.

Primary intestinal lymphangiectasia presenting as limb hemihyperplasia: a case report and literature review

BackgroundPrimary intestinal lymphangiectasia is an exceedingly rare disorder. Epidemiology is unknown. It usually presents with lower extremity swelling, diarrhea, ascites, and protein-losing enteropathy. Since the pathogenesis of edema is usually due to hypoalbuminemia; both extremities are typically involved. The edema can rarely be due to abnormal lymphatic circulation, causing lymphedema, which usually involves both extremities as well. Diagnosis is made by the constellation of clinical, biochemical, endoscopic, and histological findings. Treatment involves dietary modification, to reduce lymphatic dilation in response to dietary fat. Other pharmacologic (e.g., octreotide) and replacement measures may be indicated as well. The most serious long-term complication is intestinal lymphoma. Herein is a case of Primary intestinal lymphangiectasia presenting with unilateral lower limb swelling.Case presentationA 4-year-old boy presents with left foot swelling since the age of 4 months, in addition to intermittent diarrhea, and abdominal swelling. The foot swelling had been evaluated by different health care professionals in the past, and was mislabeled as either cellulitis, or congenital hemihyperplasia. Physical examination revealed mild ascites, and a non-pitting foot edema with a positive Stemmer’s sign (lymphedema). Blood work revealed hypoalbuminemia (albumin 2 g/dl), and hypogammaglobulinemia. Endoscopy showed dilated lacteals throughout the duodenum. Histopathologic examination revealed massively dilated lamina propria lymphatics in the duodenal biopsies. The patient was diagnosed with primary intestinal lymphangiectasia. He was treated with high-protein and low-fat diet, and supplemental formula high in medium chain triglycerides. On follow-up, the patient’s diarrhea completely resolved, and his ascites and edema improved significantly.ConclusionsThe presence of unilateral lower limb edema should not preclude the diagnosis of systemic disorders, and a high index of suspicion is required in atypical presentations. A good knowledge about Primary intestinal lymphangiectasia manifestations, and physical examination skills to differentiate edema or lymphedema from tissue overgrowth can significantly aid in the diagnosis.

Primary intestinal lymphangiectasia with lymphedema of lower extremities

Primary intestinal lymphangiectasia (PIL), also known as Waldmann’s disease, is a rare disorder manifested by the presence of dilated intestinal lymphatic ducts and leading to protein-losing enteropathy. PIL usually presents early in childhood; however, rarely may be also diagnosed in adults. Suggestive laboratory findings include hypoproteinemia, hypoalbuminemia, and hypogammaglobulinemia. Peripheral pitting edema due to hypoalbuminemia is the main clinical feature. Peripheral lymphedema is a less common symptom. We present a case of a 23-year-old woman with lymphedema of lower extremities and PIL diagnosed in childhood.

Individual approach for treatment of primary intestinal lymphangiectasia in children: single-center experience and review of the literature

BackgroundIntestinal lymphangiectasia is a rare disease. Thus, prospective studies are impossible, and therapy is still controversial. Several medicines are suggested for treatment but there are no existing indications for drug choice and treatment guidelines. We aimed to introduce the action mechanism of each drug and treatment overview in a single-center experience and a review of the literature on second-line therapy for primary intestinal lymphangiectasia.MethodChildren under 18 years old diagnosed with intestinal lymphangiectasia from June 2000 to June 2020 were included and retrospectively reviewed in the study. Capsule endoscopy, MR lymphangiography, or whole-body MRI for investigating the extent of abnormal lymphatic vessels in addition to endoscopy and biopsy were conducted. The individual treatment approaches depended upon the lymphangiectasis locations involved.ResultsOnly one patient showed a response to dietary therapy. One patient was successfully cured after two therapeutic lymphatic embolization. Octreotide was tried for two patients who had extensive lymphangiectasis. Lymphangiectasis recurred when octreotide was used for 3 months in one patient, and there was no effect in the other patient. Sirolimus was tried for four patients. Two of them had abnormal lymphatic lesions only in the intestine, and the others had extensive lymphangiectasis. The former group showed clinical improvement after 3–4 months of sirolimus treatment, whereas the latter group showed clinical improvement only after 1 month of sirolimus treatment.ConclusionSurgery or embolization is a potential therapeutic option for patients with focal abnormal lymphatic lesions. Octreotide is not an optimal choice for patients with extensive lymphangiectasis. Sirolimus is an effective and safe drug and can be the first drug of choice for patients with extensive lymphangiectasis.

Primary Intestinal Lymphangiectasia in a Middle-Aged Female.

Primary intestinal lymphangiectasia (PIL) is a rare disorder caused by impaired intestinal lymphatic drainage due to congenital lymphatic hypoplasia. It was first described by Waldman et al. in 1961,[1] about 205 cases have been reported.[2] The disease usually manifests before 3 years of age, and only occasionally diagnosed in adulthood. Here, we report a case of a middle-aged female who presented with chronic diarrhea and was finally diagnosed as a case of PIL. A 49-year-old female presented to the Outpatient Department of our hospital with complaints of diarrhea for 2 years. The patient reported an occurrence of diarrhea four to five times daily, which was semisolid to watery in consistency with absence of blood, mucus, or oil. The diarrhea was also not associated with tenesmus, urgency, or pain in the abdomen. On examination, her body mass index was 18 kg/m2 and there was presence of bilateral pitting edema in the lower limbs. Routine laboratory investigation revealed hemoglobin of 9 gm/dl, total leukocyte count of 4100/mm3 with 14% of lymphocytes, platelet count of 1.6 lakh/mm3 and hypoproteinemia (serum protein, 3.90 gm/dl; serum albumin, 2.10 gm/dl; serum globulin, 1.8 gm/dl). She was non-reactive for HIV and hepatitis B. Stool routine and microscopic examination was negative on three occasions and culture was negative. Upper gastrointestinal endoscopy revealed multiple scattered whitish spots in the second part of the duodenum [Figure 1]. Multiple biopsies from it revealed dilated lymphatic channels in lamina propria, muscularis mucosae and submucosa [Figure 2]. Therefore, a diagnosis of intestinal lymphangiectasia (IL) was made and further work up was done to rule out secondary causes. Her colonoscopy with terminal ileoscopy, contrast-enhanced computed tomography of chest and abdomen, echocardiography, autoimmune profile, immunoglobulin levels and hormonal profile were all normal except for reduced immunoglobulin levels. Accordingly, a final diagnosis of PIL was made and the patient was started on a low-fat, high-protein diet with medium-chain triglyceride (MCT) supplementation. Subsequently, her condition improved, and the diarrhea stopped after 1 month. The upper gastrointestinal endoscopy was repeated after 6 months, and the findings were normal with no whitish spots in the duodenum [Figure 3].Figure 1: Upper gastrointestinal endoscopy showing whitish spots in the second part of duodenumFigure 2: Duodenal biopsy showing dilated lacteals in mucosa and submucosaFigure 3: Normal upper gastrointestinal endoscopy after 6 months of dietary modificationPIL is a congenital malformation that presents with chronic diarrhea and malabsorption and is diagnosed after ruling out secondary causes. Its late onset can be explained by the patchy involvement of the small bowel. Secondary intestinal lymphangiectasia can occur due to various causes such as constrictive pericarditis, intestinal lymphoma, intestinal tuberculosis, sarcoidosis, scleroderma, Whipple's disease, Crohn's disease, autoimmune polyglandular syndrome and radiation or chemotherapy induced retroperitoneal fibrosis.[3] Intestinal lymphangiectasia in adults has few or no features of malabsorption, as in our case. Its diagnosis is done by specific endoscopic features and corresponding histopathological findings. Endoscopic features of intestinal lymphangiectasia are scattered white punctate snowflake lesions in small intestine due to dilated lacteals that cannot be washed away. Upper gastrointestinal endoscopy can diagnose 86% of intestinal lymphangiectasia cases.[4] Histopathology of small bowel will show characteristic dilated lacteals in the mucosa and submucosa. The cornerstone of its treatment is diet modification. Diet should be low in fat with substitution of long chain fatty acid with MCT, as it directly enters the portal venous system bypassing the intestinal lacteal system, thereby preventing lacteal engorgement and rupture.[5] Most of the patient respond with this treatment in few weeks with reversal of clinical and biochemical signs. In conclusion, PIL is a rare cause of chronic diarrhea, especially in adulthood, that requires meticulous examination of duodenum, as early diagnosis and treatment can reduce the morbidity and mortality. Declaration of patient consent The authors certify that they have obtained all appropriate consent forms from the patient. The patient has given her consent for images and other clinical information to be reported in the Journal. The patient understands that her name and initials will not be published, and due efforts will be made to conceal the identity. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Primary intestinal lymphangiectasia associated to epilepsy: a case report

Seizures occur frequently in inflammatory diseases. Primary Intestinal Lymphangiectasia (PIL) is a systemic disorder, but epilepsy was not reported before. In this paper, we presented the case of 17 years old boy, diagnosed for PIL, who developed by the age of 16 recurrent epileptic seizures. The epilepsy was confirmed, the patient was treated with carbamazepine with good outcomes. Epilepsy may occur in patients with PIL, and doctors should be aware and treat seizures when the diagnosis of symptomatic acute seizures is excluded.

The Update of Treatment for Primary Intestinal Lymphangiectasia.

Intestinal lymphangiectasia is a rare disease which is causing protein-losing enteropathy. Treatment of intestinal lymphangiectasia can be a challenge for clinicians because of the lack of specific guidelines regarding pharmacological indications. We sought to introduce a diagnostic approach and suggest guidelines for treatment. After exclusion of secondary intestinal lymphangiectasia, magnetic resonance lymphangiography is a promising tool for the assessment of abnormal lymphatic lesions in primary intestinal lymphangiectasia. Determining the extent of the lesion provides direction for treatment options. Focal short-segment intestinal lymphangiectasia can be treated via intestinal resection or radiologic embolization after dietary therapy failure. Diffuse intestinal lymphangiectasia and extensive lymphangiectasia should be treated with several drugs with a full understanding of their mechanisms.