Primary Intestinal Lymphangiectasia Research Articles

Long-term endoscopic findings in pediatric primary intestinal lymphangiectasia.

This is the first case report comparing endoscopic images of primary intestinal lymphangiectasia (PIL) over 10 years. Regular endoscopic examination is essential in PIL because endoscopic findings do not correlate well with clinical manifestations.

S2906 Primary Intestinal Lymphangiectasia Presenting as Refractory Edema in a Young Woman

S2906 Primary Intestinal Lymphangiectasia Presenting as Refractory Edema in a Young Woman

Primary intestinal lymphangiectasia in children: A review.

Primary intestinal lymphangiectasia is an uncommon condition that usually presents early in childhood. This incurable condition is consequent to underlying lymphatic abnormalities that lead to loss of lymphatic contents into the intestinal lumen. This article outlines an approach to the assessment of children presenting with characteristic features and consideration of other conditions that could lead to enteric protein loss. An overview of the management of primary intestinal lymphangiectasia is outlined.

Protein loss in the small intestine detected by capsule endoscopy

A 32-year-old woman presented with leg edema and low serum albumin. Although she had experienced intermittent episodes of leg edema since childhood, she had not been examined for this condition. Laboratory data showed hypoproteinemia (3.8 g/dL) and hypoalbuminemia (1.8 g/dL). The result of serology for infectious enteropathy was negative. Gastroduodenoscopy and total colonoscopy showed no abnormal findings. The result of Sudan III staining of the stool was positive. A fecal α-1-antitrypsin clearance test showed abnormal leakage (128 mL/day), and double-balloon enteroscopy showed white villi, white nodules (A), and chylorrhea in the jejunum. Capsule endoscopy showed apparent leakage of white lymphatic fluid from the white villi, where the internal pressure must have been physiologic. It showed leakage of protein from the villi to the intestinal lumen (B). It may be difficult to see a spontaneous leak with double-balloon enteroscopy when the intraluminal pressure is high. Biopsy specimens from the jejunal mucosa demonstrated characteristic lymphangiectasia (C, H&E and D2-40, orig. mag. ×40; D, H&E and D2-40, orig. mag. ×40 D2-40) of the lamina propria. Albumin scintigraphy showed hot spots in the small intestine. These data confirmed a diagnosis of primary intestinal lymphangiectasia and showed that the hypoalbuminemia was secondary to protein-losing enteropathy. The patient was given a low-fat diet with medium-chain triglyceride supplementation, and her clinical condition improved. All authors disclosed no financial relationships. Commentary Primary intestinal lymphangiectasia with protein-losing enteropathy is a disorder wherein ectasia of the enteric lymphatics develops. This can occur at almost any layer of the GI lumen wall. This disorder is usually seen in young patients but can be seen in adults as well (as was the case with this patient). Intestinal lymphangiectasia can be seen in the context of other conditions, including Noonan syndrome, von Recklinghausen syndrome, and Turner syndrome, among others. This patient also had symptoms that suggested this condition had been present for many years. This case illustrates the value of a well-timed capsule endoscopy study, whereby a key finding was detected that allowed elucidation and/or confirmation of a diagnosis for the patient. The findings seen in this study could be intermittent or ongoing, so the capsule findings are both as striking as they are rare. Douglas G. Adler, MD, FASGE, GIE Senior Associate Editor, University of Utah School of Medicine, Salt Lake City, Utah Mohamed O. Othman, MD, Associate Editor for Focal Points

A rare case of primary intestinal lymphangiectasia refractory to treatment

Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is a rare disorder, characterised by dilated lymphatics supplying the small intestinal wall resulting in lymph leakage into the small-bowel lumen. This protein-losing enteropathy leads to lymphopenia, hypoalbuminaemia and hypogammaglobinaemia. PIL is generally first diagnosed before 3 years of age, rarely in adulthood. Here, we present the case of a 13-year-old Emirati boy with protein-losing enteropathy secondary to intestinal lymphangiectasia refractory to the standard treatment. He was diagnosed initially at 18 months of age and presents with recurrent episodes of lower limb and scrotal swellings and diarrhoea. He requires 4–5 albumin and immunoglobulin infusions per year to control his symptoms. Most of the standard therapies tried so far failed to keep him from remissions. Moreover, he has a persistently positive helicobacter gastritis not controlled by aggressive eradication therapy. He is currently on low-fat diet and sirolimus drug therapy.

2649 A Case of Primary Intestinal Lymphangiectasia in an African American Adult Male With Intermittent Abdominal Pain and Diarrhea

INTRODUCTION: Primary intestinal lymphangiectasia is a rare type of protein losing enteropathy in which there is a localized or diffuse ectasia of the enteric lymphatic causing leakage of protein into the intestinal lumen. Here, we describe a case of Primary Intestinal Lymphangeictasia in a patient presenting with chronic intermittent abdominal pain and diarrhea. CASE DESCRIPTION/METHODS: Patient is a 56-year-old African-American male with history of COPD, DM, morbid obesity, GERD who presented to our office as a referral after hospitalization for for evaluation of abdominal pain and diarrhea. Patient was hospitalized for 3 day duration of epigastric pain and watery diarrhea. There, he was noted to have hypocalcemia, hypoalbuminemia, and trace urine proteinuria. Lactate was normal. CT abdomen pelvis showed nonspecific Jujenitis. He was treated empirically with Intravenous antibiotics and discharged home. During follow up visits, initial comprehensive workup for inflammatory bowel disease, celiac disease, stool pathogens, thyroid panel, lipid panel, Alpha-1-Antitrypsin stool clearance, and HIV were all unremarkable. Patient subsequently underwent colonoscopy and EGD. Colonoscopy revealed sigmoid diverticulosis and internal hemorrhoids. EGD revealed nonspecific jejunitis. He had yet another hospitalization for worsening similar acute abdominal pain. During his second hospitalization, labs showed mild leukocytosis, CT abdomen and pelvis revealed jejunal edema. He was taken for diagnostic laparoscopy which only showed mild ascites and thickening of the jejunum. Surgical pathology unfortunately was inconclusive. Patient followed up again as an outpatient and underwent small capsule endoscopy which revealed lymphangiectasia at the jejunum. Patient was referred to a dietitian where he was placed on high protein and Medium chain triglycerides diet. DISCUSSION: Primary Intestinal Lymphangeictasia is a rare cause of protein losing enteropathy that can manifest as non-specific abdominal pain and diarrhea. In this case, the patient had chronic intermittent abdominal pain and diarrhea which required capsule endoscopy in order to diagnose and was missed on surgical pathology. Much like an Inflammatory Bowel disease which can take several studies and biopsies in order to diagnose, albeit different pathophysiology, Primary intestinal lymphaniectasia is a rare cause of abdominal pain that should be on the differential when evaluating chronic intermittent severe abdominal pain and diarrhea of unknown etiology.

2009 Bleeding Intestinal Lymphangiectasia Diagnosed and Treated by Using Double Balloon Enteroscopy in a 41-Year-Old Female: Case Report and Review of Literature

INTRODUCTION: Intestinal lymphangiectasia (IL) is a rare disease characterized by dilated lymphatic vessels in the intestinal wall and small bowel mesentery, which induce loss of protein and lymphocytes into the bowel lumen. Gastrointestinal bleeding (GIB) rarely has been described as the only symptom of IL. We describe a case of obscure GIB in a young female caused by lymphangiectasia localized to the distal jejunum by antegrade double balloon enteroscopy. CASE DESCRIPTION/METHODS: A 41-year-old African American female who initially presented to her PCP with chronic fatigue and intermittent episodes of melena. The patient was subsequently placed on iron supplementation and referred to gastroenterology for further work up. Physical examination finding were largely unremarkable. On laboratory tests, her hemoglobin declined to 5.8 g/dL (from a baseline of 10 g/dL). Initial Esophagogastroduodenoscopy (EGD) showed 2 cm hiatal hernia but was otherwise unremarkable. A subsequent colonoscopy showed mild internal hemorrhoids and a 3 mm solitary ulcer in the distal rectum but no other obvious sources of GI bleeding. Magnetic resonance enterography (MRE) was unremarkable. Next, a video capsule endoscopy was done which showed a site of active bleeding from the mid-small bowel and was associated with nodular mucosa and prominent lacteals. A subsequent double balloon enteroscopy (DBE) showed an oozing fold in the distal jejunum with white speckled appearance consistent with a bleeding lymphangiectasia. A total of seven clips were placed on the lesion and during application of clips, a white milky substance was noted coming from the lesion suggesting the diagnosis of lymphangiectasia. DISCUSSION: IL is most commonly found in the small bowel, making its diagnosis difficult by EGD or colonoscopy. DBE and video capsule endoscopy (VCE) are the two most important diagnostic modalities available to evaluate the entire small intestine.The noninvasive nature of VCE and its capability to visualize the entire small bowel has made it a first-line tool in many centers. However, DBE is preferred over video capsule endoscopy because of higher sensitivity from better endoscopic visualization and ability to perform biopsies for pathologic diagnosis. In this report, we present an extremely rare case of primary intestinal lymphangiectasia in causing obscure GIB and successful intervention using DBE. We believe this is the second case to report small bowel bleeding from jejunal lymphangiectasia, which was successfully treated using DBE.

Intestinal lymphangiectasia: case report

Primary intestinal lymphangiectasia (PIL) was first described by Waldmann et al, in 1961. PIL is a rare disease with several hundred reported cases. It is rarely reported in adults because it is presumably a congenital disorder and when present in adults it typically produces a long duration of manifestation such as diarrhea, abdominal distention from ascites, and peripheral edema. This disorder is characterized by markedly dilated intestinal lymphatics, hypoproteinemia, generalized edema, lymphocytopenia hypogammaglobinemia, and immunologic anomalies. The loss of protein into the from dilated intestinal lymphatics leads to the development of hypoproteinemia in these patients and its demonstration is important in the diagnosis of intestinal lymphangiectasia. The disease can be secondary to congenital, secondary or idiopathic defects in the formation of the lymphatic ducts. In the present report, we describe a case of 15 years old female presented to our hospital with history of generalized edema, bilateral hand spasm, and diarrhea. Endoscopy of the patient revealed White spots (dilated lacteals), white nodules, and submucosal elevations were observed. Changes suggestive of the disease includes White villi and/or spots (dilated lacteals), white nodules, and submucosal elevations are observed. Xanthomata’s plaques are often visualized, there are no specific treatments for patients with PIL. treatment of patients with primary intestinal lymphangiectasia involves control of symptoms with the use of dietary, pharmaceutical, and behavioral modifications.

Primary intestinal lymphangiectasia in a 23-month- old girl

Primary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy which is defined as dilation of existing mucosal, submucosal, or subserosal lymphatics within the gastrointestinal tract. That causes loss of lymph fluid into the gastrointestinal tract, leading to the development of hypoproteinemia, edema, lymphocytopenia, hypogammaglobinemia, and immunologic anomalies. It is usually diagnosed in patients younger than 3 years old and is rarely first diagnosed in adulthood. Here we have a case report in a 23-month- old female presented with the complaint of peripheral edema and diarrhea. The diagnosis of PIL was made through upper gastrointestinal endoscopy and pathology histologic analysis. Patient placed on oral supplements of medium-chain triglycerides, a high protein diet, supplements of fat-soluble vitamins and responded well.

Primary Intestinal Lymphangiectasia: A case report

Primary Intestinal Lymphangiectasia: A case report

Clinical Profile, Response to Therapy, and Outcome of Children with Primary Intestinal Lymphangiectasia

Objective: Intestinal lymphangiectasia (IL; primary or secondary) is an important cause of protein-losing enteropathy. We evaluated the clinicolaboratory profile, response to therapy, complications, and outcome of children with primary IL (PIL). Methods: Consecutive children (≤18 years) diagnosed with PIL (clinical setting, typical small bowel histopathology, and exclusion of secondary causes) from 2007 to 2017 were evaluated. Results: Twenty-eight children with PIL (16 boys, age at symptom onset-12 [1–192] months and at diagnosis 8 [1–18] years) were studied. Pedal edema (93%), chronic diarrhea (78.6%), and recurrent anasarca (64%) were the common presentations. Ascites, pleural, and pericardial effusion were seen in 64 (n-18; chylous-5, non-chylous-13), 18, and 18% cases, respectively. Hypoproteinemia, hypoalbuminemia, hypocalcemia, and lymphopenia were present in 82, 82, 75 and 39% cases, respectively. Duodenal biopsy established the diagnosis in 86% cases, while 14% required distal small bowel biopsies. Dietary therapy was given in all and 6 cases required additional therapy (octreotide-6, tranexamic acid-3, and total parenteral nutrition-1). Lymphedema (3/5 vs. 1/23), pleural effusion (4/5 vs. 1/23), and the need for additional therapy (4/5 vs. 2/23) were significantly more in patients with chylous ascites (n = 5) than those without chylous ascites (n = 23). Twenty-four cases in follow-up (39 [6–120] months) showed improvement; however, 8 required readmission (symptom recurrence-6 [25%], complication-2 [8.3%], Budd Chiari Syndrome-1, and abdominal B cell lymphoma-1). Conclusion: Presence of chylous ascites suggests severe disease in children with PIL. Majority of PIL children respond to dietary therapy; only 20% need additional therapy. Long-term follow-up is essential to monitor for symptoms relapse and complications.

Comparative pathophysiology and management of protein-losing enteropathy.

Protein‐losing enteropathy, or PLE, is not a disease but a syndrome that develops in numerous disease states of differing etiologies and often involving the lymphatic system, such as lymphangiectasia and lymphangitis in dogs. The pathophysiology of lymphatic disease is incompletely understood, and the disease is challenging to manage. Understanding of PLE mechanisms requires knowledge of lymphatic system structure and function, which are reviewed here. The mechanisms of enteric protein loss in PLE are identical in dogs and people, irrespective of the underlying cause. In people, PLE is usually associated with primary intestinal lymphangiectasia, suspected to arise from genetic susceptibility, or “idiopathic” lymphatic vascular obstruction. In dogs, PLE is most often a feature of inflammatory bowel disease (IBD), and less frequently intestinal lymphangiectasia, although it is not proven which process is the true driving defect. In cats, PLE is relatively rare. Review of the veterinary literature (1977‐2018) reveals that PLE was life‐ending in 54.2% of dogs compared to published disease‐associated deaths in IBD of <20%, implying that PLE is not merely a continuum of IBD spectrum pathophysiology. In people, diet is the cornerstone of management, whereas dogs are often treated with immunosuppression for causes of PLE including lymphangiectasia, lymphangitis, and crypt disease. Currently, however, there is no scientific, extrapolated, or evidence‐based support for an autoimmune or immune‐mediated mechanism. Moreover, people with PLE have disease‐associated loss of immune function, including lymphopenia, severe CD4+ T‐cell depletion, and negative vaccinal titers. Comparison of PLE in people and dogs is undertaken here, and theories in treatment of PLE are presented.

Successful Immunoglobulin Replacement with Subcutaneous Immunoglobulin Therapy in a Patient with Primary Intestinal Lymphangiectasia

Primary intestinal lymphangiectasia is a rare disorder which characterized by impaired small intestinal lymph drainage. There is loss of proteins from dilated lymphatic channels located in the mucosa, submucosa or subserosa which is results with loss of gammaglobulins and lymphocytes, leading to impaired humoral and cellular immunity. Herein, we present a 61-year-old patient with immunodeficiency secondary to Primary intestinal lymphangiectasia (PIL), in whom we could attain effective and stable IgG levels only by subcutaneous IgG replacement rather than intravenous IgG. Our experience suggests that Subcutaneous Immunoglobulin (SCIG) replacement resulted in more stable levels of IgG in the presented patient with PIL. We concluded that SCIG should be the preferred route of immunoglobulin replacement therapy in secondary hypogammaglobulinemia due to protein losing enteropathy, especially in PIL.

CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease.

Primary intestinal lymphangiectasia (PIL) or Waldmann's disease was described in 1961 as an important cause of protein-losing enteropathy (PLE). PIL can be the sole finding in rare individuals or occur as part of a multisystemic genetic syndrome. Although genetic etiologies of many lymphatic dysplasia syndromes associated with PIL have been identified, the pathogenesis of isolated PIL (with no associated syndromic features) remains unknown. Familial cases and occurrence at birth suggest genetic etiologies in certain cases. Recently, CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and PLE (the CHAPLE syndrome) has been identified as a monogenic form of PIL. Surprisingly, loss of CD55, a key regulator of complement system leads to a predominantly gut condition. Similarly to other complement disorders, namely paroxysmal nocturnal and hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS), CHAPLE disease involves pathogenic cross-activation of the coagulation system, predisposing individuals to severe thrombosis. The observation that complement system is overly active in CHAPLE disease introduced a novel concept into the management of PLE; anti-complement therapy. While CD55 deficiency constitutes a treatable subgroup in the larger pool of patients with isolated PIL, the etiology remains to be identified in the remaining patients with intact CD55.

Brown Bowel Syndrome Presenting as a Small Bowel Obstruction

Abstract Brown bowel syndrome (BBS) is a rare condition characterized by lipofuscin deposition in the muscularis propria of the bowel. It is associated with vitamin E deficiency and malabsorptive syndromes. We report a case of BBS in a patient with previously undiagnosed primary intestinal lymphangiectasia. The patient had a longstanding history of malnutrition as well as bilateral lower extremity lymphedema and chylous ascites. He presented to our hospital with small bowel obstruction (SBO). Initial magnetic resonance enterography revealed a dilated duodenum, which when biopsied revealed only lymphangiectasia and lymphedema. He was managed conservatively and discharged following resolution of the obstruction. The patient presented again 1 month later with SBO that failed to resolve with conservative treatment. Subsequent exploratory laparotomy discovered a portion of pale, edematous, aperistaltic jejunum. The specimen was resected, and pathologic examination revealed brown granular pigment deposition within the muscularis propria, which was highlighted by periodic acid–Schiff and lipofuscin stains, diagnostic of BBS. Nutritional workup revealed multiple deficiencies. The patient's clinical findings and history were suggestive of primary intestinal lymphangiectasia with resulting nutritional deficiencies leading to BBS. Outpatient follow-up after recovery revealed an elevated 24-hour fecal α1 antitrypsin, which supports this diagnosis. The patient has since improved following adherence to a low-fat diet. The combined clinical, radiographic, and pathologic findings in this case allowed for the resolution of this complex diagnostic dilemma. Although rare, BBS remains an important consideration in the differential diagnosis of a patient with SBO and history of chylous ascites and should be viewed as a symptom of underlying treatable nutritional deficiency.

Primary Intestinal Lymphangiectasia (Waldmann’s Disease)

Primary Intestinal Lymphangiectasia (Waldmann’s Disease)

Primary intestinal lymphangiectasia co-existing with rotavirus infection. Who pulled the trigger for protein loss?

Primary intestinal lymphangiectasia co-existing with rotavirus infection. Who pulled the trigger for protein loss?

Milky Mesentery: Acute Abdomen with Chylous Ascites

Clinical presentations of intestinal lymphangiectasia include pitting edema, chylous ascites, pleural effusion, diarrhea, malabsorption and intestinal obstruction. An 8-year-old male child presented to the emergency department with clinical features of peritonitis, raising suspicion of appendicular or small bowel perforation. Diagnosis of chylous ascites with primary intestinal lymphangiectasia made on laparotomy. Acute peritonitis may be a presentation of primary intestinal lymphangiectasia and chylous ascites.

CT Lymphangiography (CTL) in Primary Intestinal Lymphangiectasia (PIL): A Comparative Study with Intraoperative Enteroscopy (IOE)

To investigate the clinical feasibility of CT lymphangiography (CTL) in primary intestinal lymphangiectasia (PIL) by comparison with intraoperative enteroscopy (IOE) during exploratory laparotomy. Eleven PIL patients (F/M, two/nine, age range 10-37 years) were recruited in this study, and they were performed IOE during exploratory laparotomy for suspected serious lymphatic-intestinal leakages. All the patients were performed CTL before surgery, and the imaging data were reviewed by two radiologists separately. CTL assessments included intestinal lesions, edematous lesions, intestinal and mesenteric lymphangiectasia, lymphaticabdominal leakages, lymph fluid reflux, lymphangioma and abnormal lymphatics in other area. The intestinal lymphangiectasia and lymphaticintestinal leakages were confirmed by histology and IOE. For CTL, (1) nine intestinal wall thickening; (2) eight ascites, complicated with four pleural effusions, (3) eight intestinal and mesenteric lymphangiectasia, (4) six lymph fluid reflux (5) one lymphatic-abdominal leakage, (6) two lymphangioma. While for IOE, intestinal lymphangiectasia has been confirmed in all patients, including five segemental and six diffusive lesions in intestinal mucosa. Besides, one lymphatic-intestinal fistula, one lymphatic-abdominal leakage was confirmed. Compared to IOE and histology, the accuracy of CTL was 72.7% in detecting intestinal lymphangiectasia. Compared to IOE, CTL demonstrates feasibility in detection of intestinal lymphangiectasia and other abnormalities in whole lymphatic circulation for PIL. Combination of CTL with IOE accommodates guidance for preoperative evaluation and therapeutic management for PIL.

Primary intestinal lymphangiectasia in children

With the progress of clinical understanding and examination methods, the incidence of primary intestinal lymphangiectasia in children is gradually increased, congenital lymphatic malformation is the most common pathogen, protein-losing enteropathy is the main clinical feature.In addition to endoscopic and histologic examination, lymphatic radionuclide imaging, has become the common method in diagnosis, especially suitable for infants and young children.The management of lymphangiectasia include: a low-fat diet associated with supplementary medium chain three acyl glycerol, symptomatic treatment, medicine and surgery.Emphasis should be put on long-term management and follow-up work. Key words: Lymphangiectasis; Intestinal; Lymphatic radionuclide imaging; Child