Primary Intestinal Lymphangiectasia Research Articles

The efficacy of double balloon enteroscopy for patients with intestinal lymphangiectasia, case report of primary intestinal lymphangiectasia

The efficacy of double balloon enteroscopy for patients with intestinal lymphangiectasia, case report of primary intestinal lymphangiectasia

Osteomalacia in a patient with primary intestinal lymphangiectasis (Waldmann's disease)

Primary intestinal lymphangiectasis (PIL), also known as Waldmann's disease, is a rare protein-losing enteropathy characterized by abnormal enlargement of the lymphatic ducts in the bowel wall. The symptoms usually start in early infancy. We report a case of osteomalacia in a 63-year-old patient with delayed-onset of PIL, for which she was on dietary treatment. She presented with a 3-year history of mechanical pain in the back and pelvis. Mild ascites and edema with functional impairment of the lower limbs were noted. The neurological evaluation was normal. Blood tests showed hypocalcemia, hypophosphatemia, alkaline phosphatase elevation, and evidence of intestinal malabsorption. Radiographs of the pelvis disclosed a fracture, Looser's zones in the iliopubic rami and left femoral neck, and a washed-out appearance of the vertebras. Dual-energy X-ray absorptiometry showed bone loss with T-score values of −1.2 SD at the lumbar spine and −2.5 SD at the femoral necks. A diagnosis of osteomalacia related to vitamin D deficiency was given. Serum 25-OH-vitamin D was 18.2 ng/ml (normal, 20–40 ng/ml) and serum parathyroid hormone was 620 pg/ml (normal, 15–65 pg/ml), suggesting secondary hyperparathyroidism. Intramuscular vitamin D was given, together with oral calcium and an adequate diet. At follow-up 8 months later, small improvements were noted in the symptoms and absorptiometry findings.

Primary intestinal lymphangiectasia diagnosed by endoscopy following the intake of a high-fat meal

Primary intestinal lymphangiectasia is a protein-losing enteropathy caused by congenital malformation or obstruction of intestinal lymphatic vessels, which lead to excessive protein loss in the intestine and malabsorption of both chylomicrons and fat-soluble vitamins [3]. It affects males and females equally and occurs mainly in children and young adults. The management of primary intestinal lymphangiectasia is difficult for the paediatric gastroenterologist because of the rarity of the disease and its variable clinical manifestations. The diagnosis is based on the typical upper gastrointestinal endoscopic findings of diffuse scattered mucosal white blebs with characteristic histological findings of abnormal lymphatic dilatation [3] and the exclusion of other acquired causes of lymphatic damage [3]. Here, we report on a girl with primary intestinal lymphangiectasia in whom the initial diagnosis based on upper gastrointestinal endoscopy and histology was uncertain. Intestinal lymphangiectasia was diagnosed by upper gastrointestinal endoscopic biopsy sampling after a high-fat

Recurrent and Opportunistic Infections in Children With Primary Intestinal Lymphangiectasia

Recurrent and Opportunistic Infections in Children With Primary Intestinal Lymphangiectasia

Intestinal lymphangiectasia: A rare cause of gastrointestinal bleeding?

To the Editor: Primary intestinal lymphangiectasia is a rare cause of exudative enteropathy. Symptoms include diarrhoea, peripheral oedema, lymph oedema of the limbs, malaise and weight loss. A 25-...

A primary intestinal lymphangiectasia patient diagnosed by capsule endoscopy and confirmed at surgery: A case report

Intestinal lymphangiectasia (IL) is a rare disease characterized by dilated lymphatic vessles in the intestinal wall and small bowel mesentery which induce loss of protein and lymphocytes into bowel lumen. Because it most often occurs in the intestine and cannot be detected by upper gastroendoscopy or colonoscopy, and the value of common image examinations such as X-ray and computerized tomography (CT) are limited, the diagnosis of IL is difficult, usually needing the help of surgery. Capsule endoscopy is useful in diagnosing intestinal diseases, such as IL. We here report a case of IL in a female patient who was admitted for the complaint of recurrent edema accompanied with diarrhea and abdominal pain over the last twenty years, and aggravated ten days ago. She was diagnosed by M2A capsule endoscopy as a primary IL and confirmed by surgical and pathological examination.

Intérêt de l'entéroscopie par vidéocapsule dans le diagnostic des lymphangiectasies intestinales primitives

Primary intestinal lymphangiectasia (Waldmann's disease) lead to a protein-losing enteropathy due to lymph leak into intestinal tract. A 28-year-old woman presented a bilateral lower limb lymphedema. Laboratory examination showing lymphopenia, hypoalbuminemia, hypogammaglobulinemia suggested the diagnosis of primary intestinal lymphangiectasia. Gastroscopy was normal and second duodenum biopsies were negative. Videocapsule endoscopy gave evidence of intestinal lymphangiectasia of the small bowel. Videocapsule endoscopy may be proposed to confirm intestinal lymphangiectasia and to precise their localization when gastroscopy is not conclusive.

Érythème nécrolytique migrateur au cours d’une maladie de Waldmann

We report a case of necrolytic migratory erythema in a patient with Waldmann's disease. A 55-year-old male patient with a history of Waldmann's disease was hospitalized for a rash on the trunk and limbs comprising annular polycyclic lesions with peripheral scaling evocative of necrolytic migratory erythema. High-protein and fatty-acid-supplemented parenteral feeding led to rapid improvement of the patient's cutaneous lesions. Waldmann's disease is characterized by intestinal lymphatic abnormalities leading to exudative intestinal disease causing protein loss in the bowel lumen and deficient fatty acid absorption. The pathogenesis of necrolytic migratory erythema is not fully understood. Increased serum glucagon does not appear to be the only mechanism involved. The occurrence of necrolytic migratory erythema in a patient with Waldmann's disease supports the current physiopathological hypothesis of the role of decreased plasma protein and amino acid levels in necrolytic migratory erythema.

Use of capsule endoscopy in children with primary intestinal lymphangiectasia

Use of capsule endoscopy in children with primary intestinal lymphangiectasia

Videocapsule endoscopy is useful for the diagnosis of intestinal lymphangiectasia

We study two authentic cases of protein-losing enteropathy, the diagnosis of which was facilitated using Given M2A videocapsule endoscopy. The first case corresponded to a primary intestinal lymphangiectasia confirmed by jejunum biopsies and the second one to a protein-losing enteropathy with lymphatic abnormalities secondary to a chronic constrictive pericarditis. In the first case, the mucosa of jejunum presented with a diffuse oedematous aspect, whitish villi, white curved lines probably related to submucosal dilated lymphatics and lacteal juice. In the second case, capsule endoscopy showed oedematous aspect of jejunum mucosa associated with white curved lines similar to those observed in the first case. Videocapsule endoscopy is useful in cases of protein-losing enteropathy to identify presence of intestinal lymphangiectasia and to specify their localisation after ruling out other disorders liable to induce protein-losing gastrointestinal syndrome.

Remission of protein-losing enteropathy after nodal lymphoma treatment in a patient with primary intestinal lymphangiectasia

Primary intestinal lymphangiectasia (PIL), so-called Waldmann's disease, is an uncommon condition, characterized by dilated intestinal submucosal and subserosal lymphatics of the gastrointestinal tract. Protein-losing enteropathy is the most common manifestation of this supposed congenital disease. Since the initial description in 1961, 11 cases of lymphoma have been reported suggesting that PIL predisposes to lymphoma. Here, we report the first case of primary nodal location lymphoma during PIL with recovery of the protein-losing enteropathy after its treatment by radiochemotherapy.

Lymphatics in the Alimentary Tract of Children in Health and Disease: Study on Mucosal Biopsies Using the Monoclonal Antibody D2-40

Primary intestinal lymphangiectasia and intestinal lymphatic hypoplasia are 2 causes of protein-losing enteropathy in children and share many common clinical features. For the diagnosis of lymphatic hypoplasia on endoscopic biopsies of the intestine, i.e., based on a negative finding in a small specimen, a very sensitive and specific method for identifying lymphatics is essential. In the present study, lymphatic vessels were labelled using D2-40 immunostaining in mucosal biopsy specimens of the alimentary tract of children in whom no histologic abnormality was noted and of those who had different relatively common pediatric conditions, including inflammatory and neoplastic diseases. Using this method, lymphatic vessels were well visualized even in young infants and not destroyed by diseases. The presence of the muscularis mucosae in specimens was important for adequate assessment. In the duodenum and esophagus, lymphatics were observed in every single section; in the stomach, ileum, and colon, they were less regular and several sections were sometimes required. The extreme sensitivity of this method for demonstrating lymphatic vessels in the duodenum makes it ideal for the histologic diagnosis of intestinal lymphatic hypoplasia. In 4 patients who were considered to have this diagnosis based on clinical features, full-thickness intestinal biopsies and electron microscopy, D2-40 immunostaining confirmed the absence or marked paucity of lymphatics.

Nine-Year-Old Girl With Lymphangiectasia and Chest Pain

Nine-Year-Old Girl With Lymphangiectasia and Chest Pain

Primary intestinal lymphangiectasia: A response to medium‐chain triglyceride formula

Primary intestinal lymphangiectasia: A response to medium‐chain triglyceride formula

Primary intestinal lymphangiectasia: A response to medium-chain triglyceride formula

Primary intestinal lymphangiectasia: A response to medium-chain triglyceride formula

High-Resolution Magnifying Video Endoscopy in Primary Intestinal Lymphangiectasia: a New Role for Endoscopy?

Figure 1 A 21-year-old woman, with a 14-month history of recurrent diarrhea, steatorrhea, hypoproteinemia and peripheral oedema, underwent upper gastrointestinal endoscopy. A Fuji EG-485ZH video endoscope was used, which is capable of providing high-resolution images (because of its 850 000-pixel chip) and up to 2 × magnification. In the second part of the duodenum the mucosal surface had an appearance resembling rice grains (a), and diffuse fluid, which was producing a smoke-like mist, was observed (b).

The Indian Journal of Pediatrics —Online

A rare occurrence of primary small intestinal lymphangiectasia in an 8-year-old girl with incontinentia pigmenti achromians is reported. In addition, she had right sided hemihypertrophy. Though intestinal lymphangiectasia is known to have a few syndromic associations, its co-existence in a child with incontinentia pigmenti achromians has not yet been reported in the literature. Hemihypertrophy is also extremely rare in the latter and only very few instances of an association between the two have been documented previously.

Lymphangiectasies intestinales primitives (maladie de Waldmann) révélées par un lymphœdème des membres

Primary intestinal lymphangiectasia (Waldmann's disease) is characterized by protein-losing enteropathy occurring more frequently in childhood. Chronic diarrhea and diffuse edema are the main clinical manifestations. Peripheral lymphedema may also be associated. Lymphedema is usually present at the time of diagnosis or appears later in the course of the disease. We report the observation of a 31-year-old man suffering from an upper, lower limb and genital lymphedema many years before diagnosis of primary intestinal lymphangiectasia was established. Lower limb lymphoscintigraphy confirmed lymphedema and duodenal biopsies lymphangiectasia. Hypoproteinemia, lymphopenia and hypogammaglobulinemia were also noted. Treatment of lymphedema included low stretch bandaging and elastic stocking. No dietary management with a low-fat diet was added. Search for primary intestinal lymphangiectasia with biological parameters would be useful when primary lymphedema is present. Especially since primary intestinal lymphangiectasia may be complicated by occurrence of B cell lymphoma.

Subcutaneous immunoglobulin infusions for treatment of a child with severe protein-losing enteropathy

Rationale Protein-losing enteropathy has been associated with severe immunodeficiency due to loss of immunoglobulins and lymphocytes through the gastrointestinal tract. We examined the effectiveness of weekly subcutaneous immunoglobulin infusions in a six-year-old male with primary intestinal lymphangiectasia, a rare disease characterized by edema, diarrhea, hypoproteinemia, and hypogammaglobulinemia. Immunoglobulin G (IgG) levels were as low as 93 mg/dL, and there was also a selective loss of CD4+ cells, dropping to 10% with an absolute cell count of 63/cmm. Methods Weekly infusions of subcutaneous immunoglobulin were given to the patient at 2.5 gm a week over 4 weeks and serum IgG levels were checked prior to each infusion. Results Over four weeks, the patient's IgG went from 185 mg/dL to 205 mg/dL, 215 mg/dL, and 214 mg/dL. He tolerated the procedures well with no complications. He did not develop any new infections during this time period. Conclusions These results suggest that subcutaneous infusions of immunoglobulin resulted in more stable levels of IgG. Weekly administration of subcutaneous immunoglobulin may allow for a more steady state of serum IgG than monthly intravenous bolus doses of immunoglobulin. There is also the potential for self-administration of subcutaneous immunoglobulin, which may be a preferable and effective alternative for patients with protein-losing enteropathy. Further studies and longer treatment periods are needed to establish its usefulness.

Long-term follow-up of a patient with intestinal and pulmonary lymphangiectasia and acquired humoral and cellular immunodeficiency

Rationale Primary intestinal lymphangiectasia is a rare disorder resulting in intermittent diarrhea, steatorrhea, and hypoalbuminemia. Loss of intestinal lymphatic fluids leads to hypogammaglobulinemia and lymphopenia resulting in an acquired humoral and cellular immunodeficiency. Decreased dietary fat slows the loss of protein from the intestine. IVIG may be beneficial in decreasing the infection rate. Long-term follow-up data is rare in these patients. Methods We present a case report of a 25 year-old female who was diagnosed with intestinal and pulmonary lymphangiectasia in childhood and has been on IVIG and dietary management for twelve years. Results The child presented at one year of age with failure to thrive, hypoalbuminemia, hypogammaglobulinemia, edema, ascites and steatorrhea. Biopsies of intestine revealed lymphangiectasias at one year of age. A low fat diet and vitamin supplementation was instituted, however the family was noncompliant. The child had multiple hospital admissions with interstitial pneumonitis and fungal pneumonia. A lung biopsy revealed lymphangiectasia. IVIG was initiated after the patient developed bronchiectasis. T cell studies revealed reduced CD3, CD4 and CD8 as well as very reduced mitogens. On IVIG, the frequency and severity of her pulmonary infections have gradually decreased. Pulmonary densities seen on CT scan, and PFT's have improved. However, she continues to have chronic lung disease. Improvement in peripheral edema, diarrhea and steatorrhea also were noted. Conclusions IVIG has been helpful in long-term management of patient with pulmonary and intestinal lymphangiectasia. Decline in pulmonary functions, infection rate and peripheral edema have gradually slowed and stabilized with increasing age.