Linfangiectasia intestinal em adulto: relato de caso / Intestinal lymphangiectasia in an adult: case report

Resumo A linfangiectasia intestinal consiste em um grupo de doenças raras caracterizadas pela dilatação dos canais linfáticos. A fisiopatologia compreende a obstrução da drenagem linfática do intestino delgado com dilatação secundária dos vasos linfáticos mucosos, submucosos ou subserosos, que distorcem a arquitetura das vilosidades e conduzem à perda de linfa para a luz intestinal, levando à má absorção. Os vasos linfáticos afetados localizam-se primariamente no intestino delgado, que é atingido em extensão variável. A sua etiologia é ainda desconhecida. O relato a seguir apresenta um raro caso de linfangiectasia intestinal em paciente adulto.

Abstract Intestinal lymphangiectasia is a group of rare diseases characterized by dilation of lymphatic channels. Its pathophysiology comprises obstruction of small bowel lymphatic drainage with secondary dilation of mucosal, submucosal, or subserous lymphatic vessels, distorting villous architecture and causing loss of lymph into the intestinal lumen, leading to malabsorption. The affected lymphatic vessels are primarily located in the small intestine, which is affected to a varying extent. Its etiology is still unknown. The following report presents a rare case of intestinal lymphangiectasia in an adult patient.

An approach to familial lymphoedema.

Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments, massage, good skin hygiene and prompt use of antibiotics to avoid the complication of cellulitis. Most commonly, lymphoedema occurs as a result of damage to the lymphatic system following surgery, trauma, radiation or infection. However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system. Common genetic conditions associated with lymphoedema include Turner syndrome and Noonan syndrome; however, there are numerous others that can be classified based on their clinical presentation and associated features. Herein we discuss how to diagnose and classify the known primary lymphoedema conditions and how best to investigate and manage this group of patients.

Primary intestinal lymphangiectasia in an elderly female patient: A case report on a rare cause of secondary immunodeficiency.

Protein loss via the gut can be caused by a number of gastrointestinal disorders, among which intestinal lymphangiectasia has been described to not only lead to a loss of proteins but also to a loss of lymphocytes, resembling secondary immunodeficiency. We are reporting on a 75-year-old female patient who came to our hospital because of a minor stroke. She had no history of serious infections. During the diagnostic work-up, we detected an apparent immunodeficiency syndrome associated with primary intestinal lymphangiectasia. Trying to characterize the alterations of the immune system, we not only found hypogammaglobulinemia and lymphopenia primarily affecting CD4+, and also CD8+ T cells, but also marked hypocomplementemia affecting levels of complement C4, C2, and C3. The loss of components of the immune system most likely was due to a chronic loss of immune cells and proteins via the intestinal lymphangiectasia, with levels of complement components following the pattern of protein electrophoresis. Thus, intestinal lymphangiectasia should not only be considered as a potential cause of secondary immune defects in an elderly patient, but can also be associated with additional hypocomplementemia.

Primary Intestinal Lymphangiectasia Manifested as Unusual Edemas and Effusions: A Case Report.

Primary intestinal lymphangiectasia (PIL) is a rare disorder of unknown etiology characterized by diffuse or localized dilation and eventual rupture of the enteric lymphatic vessels in mucosa, submucosa, and/or subserosa. Lymph, rich in all kinds of proteins and lymphocytes, leaks into the gastrointestinal tract via the affected lymphatic vessels causing hypoproteinemia and lymphopenia. The main symptom is variable degrees of pitting edemas of bilateral lower limbs. But edemas of any other parts of body, and mild serous effusions may also occur sometimes. PIL occurs in conjunction with a right hemifacial edema, a right upper limb lymphedema, asymmetric bilateral calves edemas, and a unilateral massive pleural effusion seems never to be reported before. In addition, increased enteric protein loss that may cause severe hypoproteinemia usually get overlooked, and the lymphatic system disorders always put the diagnoses in a dilemma.We described a case of a 17-year-old Chinese girl with a history of gradually progressive swellings of right-sided face, right upper limb, and bilateral calves since 3 to 4 months of age. A right-sided massive pleural effusion, a moderate pericardial effusion, and a mild ascites have been proved unchanged by a series of computerized tomography (CT) scans since 5 years ago. The diagnosis of PIL was finally confirmed by severe hypoproteinemia, endoscopic changes, and histology of jejunum biopsy. Further lymphoscintigraphy and lymphangiography also identified lymph leakage in her bowel and several abnormal lymphatic vessels. A high-protein, low-fat diet supplemented with medium-chain triglycerides (MCT) showed some benefit.This case suggested that PIL was a rare but important etiology of hypoproteinemia, effusions, and edemas. PIL, effusions, and lymphedema can be the features of multisegmental generalized lymphatic dysplasia. In addition, both lymphoscintigraphy and intranodal lymphangiography could be considered when lymphatic system disorders are suspected.

Intestinal lymphangiectasia and reversible high liver stiffness.

Primary intestinal lymphangiectasia (PIL) is a protein-losing enteropathy characterized by tortuous and dilated lymph channels of the small bowel. The main symptoms are bilateral lower limb edema, serosal effusions, and vitamin D malabsorption resulting in osteoporosis. We report here a case of long-lasting misdiagnosed PIL with a peculiar liver picture, characterized by a very high stiffness value at transient elastography, which decreased with clinical improvement. The complex interplay between lymphatic and hepatic circulatory system is discussed.

Small bowel lymphangiectasia and angiodysplasia: a positive association; novel clinical marker or shared pathophysiology?

INTRODUCTION: Small bowel angiodysplasia accounts for 30 to 40% of cases of obscure gastrointestinal bleeding and is associated with significant morbidity and mortality. Identifying lesions can be difficult. Small bowel capsule endoscopy (SBCE) is a significant advance on earlier diagnostic techniques. The cause of angiodysplasia is unknown and the natural history poorly understood. Many lesions are thought to arise from a degenerative process associated with ageing, local vascular anomalies, and tissue hypoxia. Nonpathologic lymphangiectasias are commonly seen throughout the small bowel and are considered a normal finding. AIMS: To determine whether there is an association between lymphangiectasias, angiodysplasia, and atherosclerosis related conditions. METHODS: Relevant information was collected from a dedicated SBCE database. Logistic regression analysis was used to examine associations between angiodysplasia, lymphangiectasia, patient demographics, and comorbidity. RESULTS: In all, 180 patients underwent SBCE during the study period, 46 (25%) had angiodysplasia and 47 (26%) lymphangiectasia. Lymphangiectasia were seen in 24 (52%) of 46 with angiodysplasia, in 16 (19%) of 84 with obscure gastrointestinal bleeding without angiodysplasia and in 7 (14%) of 50 without gastrointestinal bleeding. Logistic regression analysis confirmed a strong positive association between angiodysplasia and lymphangiectasia; odds ratio 4.42, P<0.003. Angiodysplasias were also associated with increasing age; odds ratio 1.1. There was no correlation with any other patient characteristic. CONCLUSIONS: Lymphangiectasia are strongly associated with the presence of small intestinal angiodysplasia and may represent a useful clinical marker for this condition. Angiodysplasia are also associated with increasing age. Conditions associated with systemic atherosclerosis did not increase the risk of angiodysplasia.

Changes in regulatory molecules for lymphangiogenesis in intestinal lymphangiectasia with enteric protein loss.

BACKGROUND AND AIM: Vascular endothelial growth factor receptor 3 (VEGFR3) and LYVE-1 are specifically expressed in the endothelium of the lymphatic systems. VEGF-C, D, FOXC2, Prox 1, and SOX18 are known to play central roles in lymphatic development. We investigated the expression of regulatory molecules for lymphangiogenesis in the duodenal mucosa of idiopathic intestinal lymphangiectasia. METHODS: Biopsy samples were obtained from duodenal biopsies in patients with intestinal lymphangiectasia complicated with protein-losing from white spot lesions in which lymphangiectasia was histologically confirmed. Immunohistochemical analysis for VEGFR3 and LYVE-1 was performed. mRNA expression of VEGF-C, VEGF-D, VEGFR3, and transcription factors was determined by the quantitative reverse transcription-polymerase chain reaction method. RESULTS: In the control mucosa, VEGFR3 was weakly expressed on the central lymphatic vessels in the lamina propria and LYVE-1 was expressed mainly on the lymphatic vessels in the submucosa. In intestinal lymphangiectasia, VEGFR3 and LYVE-1 expression levels were increased on the mucosal surface corresponding to widely dilated lymphatic vessels, while they were decreased in the deeper mucosa. mRNA expression study showed a significant increase in the expression level of VEGFR3 in lymphangiectasia, but the expression of VEGF-C and -D mRNA was significantly suppressed compared with that in controls despite the presence of lymphangiectasia. The mRNA expression levels of FOXC2 and SOX18 were also decreased, whereas Prox 1 was not altered. CONCLUSIONS: There is an altered expression of regulatory molecules for lymphangiogenesis in the duodenal mucosa in these patients.

Clinical, clinicopathologic, radiographic, and ultrasonographic characteristics of intestinal lymphangiectasia in dogs: 17 cases (1996-1998).

OBJECTIVE: To characterize the clinical, clinicopathologic, and imaging findings in dogs with intestinal lymphangiectasia and to compare the histologic grade of lymphangiectasia with clinicopathologic and imaging abnormalities. DESIGN: Retrospective study. ANIMALS: 17 dogs with a histologic diagnosis of intestinal lymphangiectasia. PROCEDURE: Medical records of dogs with a histologic diagnosis of intestinal lymphangiectasia were reviewed for signalment, history, clinical signs, results of exploratory laparotomy, and clinicopathologic, radiographic, ultrasonographic, and histologic findings. RESULTS: Mean age of dogs was 8.3 years; the most common clinical signs were diarrhea, anorexia, lethargy, vomiting, and weight loss. Abnormal physical examination findings included dehydration, ascites, and signs of pain on palpation of the abdomen. The most notable clinicopathologic findings were low serum ionized calcium concentration and hypoalbuminemia. Abdominal ultrasonography was performed in 12 dogs and revealed intestinal abnormalities in 8 dogs and peritoneal effusion in 7 dogs. Exploratory laparotomy revealed abnormalities in 9 of 16 dogs including thickened small intestine, dilated lacteals, lymphadenopathy, and adhesions. On histologic examination of the small intestine, concurrent inflammation was observed in 15 of 17 dogs, crypt ectasia in 5 of 17, and lipogranulomas in 2 of 17. CONCLUSIONS AND CLINICAL RELEVANCE: Intestinal lymphangiectasia in dogs appears to be a heterogeneous disorder characterized by various degrees of panhypoproteinemia, hypocholesterolemia, lymphocytopenia, and imaging abnormalities. In most dogs, the severity of hypoalbuminemia appears to offer the best correlation with severity of histologic lesions of lymphangiectasia. Imaging abnormalities are common in dogs with intestinal lymphangiectasia but are not specific enough to differentiate this disorder from other gastrointestinal disorders, nor are they predictive of histologic severity.

Linfangiectasia intestinal primaria: reporte de un caso

Paciente de sexo femenino quien a los 6 meses presenta diarrea persistente, asociada a edemas y falla en el crecimiento. Los paraclínicos mostraron: hipoalbuminemia, linfopenia, hipocalcemia, sudan (++) en materia fecal y carotinemia baja. La biopsia intestinal reveló linfangiectasia intestinal primaria

Intestinal lymphangiectasia: value of Tc-99m dextran lymphoscintigraphy.

Intestinal lymphangiectasia is a common cause of protein-losing enteropathy characterized by diarrhea, generalized edema, enteric protein loss, hypoproteinemia, and lymphopenia. Diagnosis is based on demonstration of enteric protein loss and characteristic small bowel mucosal histology. Various imaging modalities including barium studies, computed tomography, and lymphangiography have had limited clinical use. The authors report a case of intestinal lymphangiectasia in which Tc-99m dextran lymphoscintigraphy played a significant role in the patient management.

The oral manifestations of intestinal lymphangiectasia: case report.

Intestinal lymphangiectasia is a rare autosomal dominant disorder or acquired condition that leads to lymph obstruction, poor chyle transport, and concomitant problems of hypoproteinemia, lymphocytopenia, hypogammaglobulinemia, and peripheral edema. Patients develop diarrhea, steatorrhea, and hypocalcemia secondary to fat-soluble vitamin malabsorption. Treatment is a restrictive diet of low fat, medium chain triglycerides. Oral manifestations are gingivitis due to poor PMN function and enamel defects due to poor calcium absorption. A case of a 14-year-old boy with both gingival and enamel problems secondary to intestinal lymphangiectasia is reported.

Intestinal leakage of technetium-99m-MDP in primary intestinal lymphangiectasia.

We present a case in which a patient with primary intestinal lymphangiectasia demonstrated abnormal intestinal accumulation of tracer during 99mTc-methylene diphosphonate (MDP) skeletal scintigraphy. Early intestinal leakage with gradual colonic migration and concentration was confirmed by repeat bone scan with serial acquisitions. The mechanism for the intestinal localization of 99mTc-MDP seen in this patient is not clear. Thus, intestinal lymphangiectasia can be a cause for extra-osseous localization of bone scan agents in the intestine.

Linfangiectasia intestinal: relato de 2 casos / Intestinal lymphangiectasis: report of 2 cases

Linfangiectasia intestinal é uma patologia decorrente de bloqueio linfático a qual se caracteriza por dilataçäo cística dos canais linfáticos na lâmina própria da mucosa intestinal que determina distorçäo e aumento de tamanho das vilosidades, sem atrofia. Os autores relatam dois casos de linfangiectasia intestinal primária em duas crianças do sexo feminino com 2 anos e 7 meses e 1 ano e 7 meses de idade, respectivamente. Em ambos os casos as manifestaçöes da doença foram diarréia crônica e edema hipoproteinêmico. A avaliaçäo da funçäo intestinal mostrou malabsorçäo de gorduras nos dois casos e a biópsia de intestino delgado evidenciou dilataçäo cística dos canais linfáticos no córion com distorçäo das vilosidades e preservaçäo do epitélio cilíndrico. Ambas as pacientes tiveram ensaio terapêutico inicial com dieta hipogordurosa adicionada de triglicerídeos de cadeia média sem sucesso, requerendo a instalaçäo de nutriçäo parenteral. A partir daí uma das crianças evoluiu mal, com distúrbios metabólicos graves e incontroláveis e a outra se recuperou, voltando a receber a dieta incial

Vitamin E-deficient spinocerebellar syndrome due to intestinal lymphangiectasia.

A 23-year-old woman with congenital intestinal lymphangiectasia developed a progressive spinocerebellar syndrome and neuropathy. The clinical findings were typical of vitamin E deficiency, which was documented in the patient. Intestinal lymphangiectasia is an additional vitamin E-deficient disease that may cause this neurologic syndrome.