A linfangiectasia intestinal primária (PIL) é uma doença intestinal rara caracterizada por dilatação do lúmen intestinal que causa vazamento de linfa para o lúmen do intestino delgado. As manifestações clínicas incluem edema relacionado à hipoalbuminemia (enteropatia perdedora de proteínas), astenia, diarréia, linfedema e retardo de crescimento em crianças.
Introdução
O que você precisa saber de cara
A linfangiectasia intestinal primária (PIL) é uma doença intestinal rara caracterizada por dilatação do lúmen intestinal que causa vazamento de linfa para o lúmen do intestino delgado. As manifestações clínicas incluem edema relacionado à hipoalbuminemia (enteropatia perdedora de proteínas), astenia, diarréia, linfedema e retardo de crescimento em crianças.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 42 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
Primary intestinal lymphangiectasia presenting with intussusception in a child.
Intestinal lymphangiectasia is a protein losing intestinal disease caused by congenital malformation or obstruction of intestinal lymphatics. Based on etiology, it is classified as primary or secondary. Primary Intestinal Lymphangiectasia (PIL) is a rare disorder of intestinal lymphatic dysfunction and may present with a wide spectrum of clinical manifestations but it very infrequently presents as intussusception in children. To the best of our knowledge this is the second only reported case in children, both cases being described from the Indian subcontinent. A 12-year-old male presented complaining of abdominal pain for one week. Examination revealed a palpable mass in the right upper quadrant and abdominal tenderness. A provisional diagnosis of acute intestinal obstruction was made and the child underwent an emergency laparotomy which revealed a segment of distal ileum displaying intussusception. On cut opening, no growth was seen. Histopathology of the telescoped segment showed many ectatic and dilated lymphatic channels filled with lymph. PIL should be considered in the differential diagnosis in children presenting with intestinal obstruction.
Clinical presentation, treatment, and outcome of children with primary intestinal lymphangiectasia: A national retrospective study.
Primary intestinal lymphangiectasia (PIL) is a very rare disease responsible for protein-losing enteropathy. There is little published data about treatments efficacy and outcomes. Our main objective was to describe the clinical profile, response to therapy, and outcomes of children with PIL. We conducted a national retrospective study including children with PIL followed in French university hospitals between 2010 and 2022. Response to treatment was defined as clinical remission and no need for albumin infusion. Response was considered complete if albuminemia was normal (>35 g/l) during follow-up and partial if less than 35 g/l. Thirty-four children (22 males) were included; median age at diagnosis was 7 (3-29,5) months. The median follow-up in our cohort was 4.5 years. Edema (79%), chronic diarrhea (50%), and ascites (35%) were the main symptoms. Thirty-one patients received a low long-chain triglycerides dietary therapy and 25 (81%) responded: 15 had a partial response and 10 a complete response. Four patients (12%) required a second-line drug treatment. The presence of lymphedema or an identified genetic variant were associated with a partial response to diet (p < 0.05). A normal diet could be reintroduced in 14 patients (45%) without relapse during the follow-up. Among them, nine children (26%) were considered cured with a complete and prolonged remission under a normal diet. Most children with PIL responded to diet therapy and about a quarter of the cohort had a good prognosis with complete remission even after discontinuation of the diet. Presence of lymphedema or a genetic variant was associated with a chronic condition.
An unusual etiology of diarrhea: primary intestinal lymphangiectasia.
Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by malformed and dilated intestinal lymphatic vessels, resulting in impaired drainage and leakage of lymph fluid into the gastrointestinal lumen. This leads to protein-losing enteropathy, causing chronic diarrhea, peripheral edema, weight loss, and hypoalbuminemia due to loss of proteins, lymphocytes, and lipids. Diagnosis relies on endoscopic visualization of pathognomonic white mucosal plaques (representing dilated lymphatics) and histopathological confirmation of lymphatic dilation, after excluding secondary causes like malignancy, surgery, or inflammatory conditions.
Primary intestinal lymphangiectasia in a 5-month-old boy.
Uncommon association of familial short stature with primary intestinal lymphangiectasia.
Primary intestinal lymphangiectasia (PIL) is a rare cause of lymphatic dysfunction leading to enteric protein loss in children. This case report describes a male child, with familial short stature who presented with chronic diarrhoea, anaemia, anasarca, lymphopaenia and hypoalbuminaemia due to PIL. Diagnosis was confirmed through a combination of endoscopic findings and histopathological analysis of small bowel biopsies showing dilated lymphatic vessels in the duodenum. The child responded to dietary intervention with medium chain triglycerides, fat soluble vitamin supplementations and subcutaneous octreotide therapy. The mainstay of management involves nutritional interventions with consideration of other supportive and therapeutic interventions.
Publicações recentes
Primary Intestinal Lymphangiectasia Presenting as Recurrent Chylous Ascites: A Rare Case.
🥈 ObservacionalPrimary intestinal lymphangiectasia presenting with intussusception in a child.
Uncommon association of familial short stature with primary intestinal lymphangiectasia.
Clinical presentation, treatment, and outcome of children with primary intestinal lymphangiectasia: A national retrospective study.
Primary intestinal lymphangiectasia in a 5-month-old boy.
📚 EuropePMC154 artigos no totalmostrando 105
Primary intestinal lymphangiectasia presenting with intussusception in a child.
La Pediatria medica e chirurgica : Medical and surgical pediatricsUncommon association of familial short stature with primary intestinal lymphangiectasia.
BMJ case reportsClinical presentation, treatment, and outcome of children with primary intestinal lymphangiectasia: A national retrospective study.
Journal of pediatric gastroenterology and nutritionPrimary intestinal lymphangiectasia in a 5-month-old boy.
Clinical endoscopyClinical characterization of primary intestinal lymphangiectasia in infants and young children: a single-center retrospective analysis in China.
Translational pediatricsAn unusual etiology of diarrhea: primary intestinal lymphangiectasia.
Revista espanola de enfermedades digestivasPrimary intestinal lymphangiectasia: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Orphanet journal of rare diseasesElusive Edematous Primary Intestinal Lymphangiectasia in an Adult Patient Presenting With New Onset of Protein-Losing Enteropathy.
ACG case reports journalSecondary Hyperparathyroidism in Primary Intestinal Lymphangiectasia: A Report of Four Cases.
Gastroenterology researchIntestinal lymphangiectasia in a dog: Clinical, ultrasonographic, endoscopic, and strain elastographic aspects.
Open veterinary journalScintigraphic Improvement of Primary Intestinal Lymphangiectasia in a Patient Treated With Alpelisib for a PIK3CA-Related Overgrowth Spectrum.
Clinical nuclear medicineElderly Onset Primary Intestinal Lymphangiectasia-A Rare Case.
JGH open : an open access journal of gastroenterology and hepatologyPrimary intestinal lymphangiectasia.
The lancet. Gastroenterology & hepatologyLymphangiogram in primary intestinal lymphangiectasia.
Indian journal of gastroenterology : official journal of the Indian Society of GastroenterologyAn evaluation of pozelimab for the treatment of CHAPLE disease.
Expert opinion on biological therapy[Clinical features of 50 patients with primary intestinal lymphangiectasia].
Zhonghua wai ke za zhi [Chinese journal of surgery]Endoscopic Diagnosis of Primary Intestinal Lymphangiectasia in an Adult With Refractory Protein-Losing Enteropathy: A Case Report.
CureusPrimary intestinal lymphangiectasia - A rare cause of growth delay.
Pediatrics and neonatologyPharmacotherapy for CD55 deficiency with CHAPLE disease: how close are we to a cure?
Expert opinion on pharmacotherapyPrimary intestinal lymphangiectasia: A case report.
Journal of pediatric gastroenterology and nutritionWaldmann's disease: Primary intestinal lymphangiectasia diagnosed by 99mTc-labeled albumin macroaggregate scintigraphy-A case report in an adult patient.
Clinical case reportsHypocalcaemic tetany linked to vitamin D deficiency and hypomagnesemia in primary intestinal lymphangiectasia: a literature review.
Annals of medicine and surgery (2012)Experience of primary intestinal lymphangiectasia in adults: Twelve case series from a tertiary referral hospital.
World journal of clinical casesMulibrey nanism and immunological complications: a comprehensive case report and literature review.
Frontiers in immunologyYellow Nail Syndrome: Analysis of 23 Consecutive Patients and Effect of Combined Fluconazole-Vitamin-E Treatment.
Dermatology (Basel, Switzerland)Newfound features associated with Hennekam Syndrome (Intestinal Lymphangiectasia-Lymphedema-Intellectual-Disability Syndrome) complicated with comorbid Waldmann's Disease resulting in Celiac Disease.
Clinical case reportsPrimary Intestinal Lymphangiectasia Successfully Controlled with a Denver Peritoneovenous Shunt for Refractory Ascites.
Internal medicine (Tokyo, Japan)A late diagnosis of primary intestinal lymphangiectasia in a Syrian girl.
Clinical case reportsMisty mesentery, ascites, and bowel wall thickening in a child: Diagnostic clue for intestinal lymphangiectasia.
Radiology case reportsCryptococcal meningitis and cerebral vasculitis in a patient with primary intestinal lymphangiectasia: a case report.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical MicrobiologyMilky Way: Management of Primary Intestinal Lymphangiectasia.
Digestive diseases and sciencesColonic Lymphangiomatosis.
CureusAdult-Onset Primary Intestinal Lymphangiectasia With Liver Enzymes Elevation.
ACG case reports journalCorrelation between capsule endoscopy classification and CT lymphangiography of primary intestinal lymphangiectasia.
Clinical radiologySevere vaccine-acquired rotavirus infection in an infant with primary intestinal lymphangiectasia.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyEndoscopic classification and pathological features of primary intestinal lymphangiectasia.
World journal of gastroenterologyPrimary intestinal lymphangiectasia presenting as limb convulsions: A case report.
World journal of clinical casesDiagnostic dilemma in diagnosing rare cause of protein losing enteropathy: Waldmann's disease.
Clinical case reportsProtein-losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency.
Journal of clinical immunologyPrimary intestinal lymphangiectasia: a rare disease as a cause of protein-losing enteropathy.
Revista espanola de enfermedades digestivasA case of primary intestinal lymphangiectasia with non-Hodgkin lymphoma.
BMC gastroenterologyPrimary Intestinal Lymphangiectasia in a Middle-Aged Female.
Saudi journal of medicine & medical sciencesPrimary intestinal lymphangiectasia in children: Twelve years of experience in the diagnosis and management.
Asia Pacific journal of clinical nutritionThe Update of Treatment for Primary Intestinal Lymphangiectasia.
Pediatric gastroenterology, hepatology & nutritionDynamic Contrast Magnetic Resonance Lymphangiography Localizes Lymphatic Leak to the Duodenum in Protein-Losing Enteropathy.
Journal of pediatric gastroenterology and nutritionComplicated primary intestinal lymphangiectasia (Waldmann's disease) in a child successfully treated with octreotide: A case report from a low-resource setting.
Annals of medicine and surgery (2012)An unusual cause of heparin resistance - A case report.
Annals of cardiac anaesthesiaHome parenteral nutrition a life-saving therapy in a primary intestinal lymphangiectasia patient affecting the entire GI tract - 3 year follow-up case report.
Annals of medicine and surgery (2012)Primary intestinal lymphangiectasia presenting as limb hemihyperplasia: a case report and literature review.
BMC gastroenterologyTherapeutic Lymphatic Embolization in Pediatric Primary Intestinal Lymphangiectasia.
Yonsei medical journalRefractory primary intestinal lymphangiectasia effectively managed with subcutaneous octreotide.
BMJ case reportsLong-term endoscopic findings in pediatric primary intestinal lymphangiectasia.
Clinical case reportsPrimary intestinal lymphangiectasia in an adult patient: A case report and review of literature.
World journal of gastroenterologyIndividual approach for treatment of primary intestinal lymphangiectasia in children: single-center experience and review of the literature.
BMC pediatricsPrimary Intestinal Lymphangiectasia: Diagnostic Accuracy of 99mTc-Labeled Human Serum Albumin Nanocolloid SPECT/CT Before Biopsy.
Clinical nuclear medicinePrimary intestinal lymphangiectasia diagnosed by video capsule endoscopy in a patient with immunodeficiency presenting with Morganella morganii bacteraemia.
BMJ case reportsA case of Heck's disease with primary intestinal lymphangiectasia treated with imiquimod.
Indian journal of dermatology, venereology and leprologyTuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report.
World journal of clinical casesPrimary intestinal lymphangiectasia in children: A review.
Journal of paediatrics and child healthChronic diarrhea with white colon: primary intestinal lymphangiectasia.
QJM : monthly journal of the Association of PhysiciansFirst Report of Treatment with Pancreas-Sparing Duodenectomy in a Child with Primary Intestinal Lymphangiectasia.
Journal of Indian Association of Pediatric SurgeonsPrimary Intestinal Lymphangiectasia Causing Intussusception and Small Bowel Obstruction.
ACG case reports journalPrimary intestinal lymphangiectasia in a 23-month- old girl.
Oxford medical case reportsProtein-losing enteropathy and primary intestinal lymphangiectasia.
QJM : monthly journal of the Association of Physicians[Primary intestinal lymphangiectasia: first case report in Peru].
Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del PeruClinical Profile, Response to Therapy, and Outcome of Children with Primary Intestinal Lymphangiectasia.
Digestive diseases (Basel, Switzerland)Pediatric localized intestinal lymphangiectasia treated with resection.
International medical case reports journalComparative pathophysiology and management of protein-losing enteropathy.
Journal of veterinary internal medicineCHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease.
Immunological reviews[Primary intestinal lymphangiectasia: Could propranolol be an effective alternative treatment?].
Anales de pediatriaNovel Magnified Single-Balloon Enteroscopy Enables Observation of Jejunal White Spots Associated with Lymphangiectasia.
Digestive diseases (Basel, Switzerland)Milky Mesentery: Acute Abdomen with Chylous Ascites.
Indian pediatricsPrimary Intestinal Lymphangiectasia (Waldmann's Disease).
The American journal of gastroenterologyPrimary intestinal lymphangiectasia and a review of the current literature.
The Turkish journal of gastroenterology : the official journal of Turkish Society of GastroenterologyCT Lymphangiography (CTL) in Primary Intestinal Lymphangiectasia (PIL): A Comparative Study with Intraoperative Enteroscopy (IOE).
Academic radiologyCase report of primary intestinal lymphangiectasia diagnosed in an octogenarian by ileal intubation and by push enteroscopy after missed diagnosis by standard colonoscopy and EGD.
MedicineNutritional therapy and effect assessment of infants with primary intestinal lymphangiectasia: Case reports.
Medicine[Clinical analysis of intestinal lymphangiectasia in 47 children].
Zhonghua er ke za zhi = Chinese journal of pediatrics[Primary intestinal lymphangiectasia associated with follicular lymphoma: one case report].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiPrimary Intestinal Lymphangiectasia (Waldmann's Disease) Presenting with Chylous Effusions in a 15-Year-Old.
Journal of clinical and diagnostic research : JCDR[Diagnostic and therapeutic approach to chronic inflammatory enteropathies in dogs].
Tierarztliche Praxis. Ausgabe K, Kleintiere/Heimtiere[Primary intestinal lymphangiectasia (Waldmann's disease)].
La Revue de medecine interneExacerbation of primary intestinal lymphangiectasia during late pregnancy and recovery after delivery: A case report and literature review.
MedicinePrimary intestinal lymphangiectasia in an elderly female patient: A case report on a rare cause of secondary immunodeficiency.
MedicineCutaneous lymphangiectasia in a patient with primary intestinal lymphangiectasia.
International journal of dermatologyCauses Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.
Journal of Ayub Medical College, Abbottabad : JAMCCD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
The New England journal of medicinePrimary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex.
Journal of pediatric gastroenterology and nutritionWaldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect.
Journal of clinical and diagnostic research : JCDRA primary intestinal lymphangiectasia hiding the diagnosis of pleural and pericardial tuberculosis: a clinical observation.
The Pan African medical journalWaldmann's disease: a rare cause of protein losing enteropathy in an adult patient.
Revista espanola de enfermedades digestivasPrimary intestinal lymphangiectasia: Multiple detector computed tomography findings after direct lymphangiography.
Journal of medical imaging and radiation oncologyVideo Capsule Endoscopy to Diagnose Primary Intestinal Lymphangiectasia in a 14-Month-Old Child.
Journal of pediatric gastroenterology and nutritionPrimary Intestinal Lymphangiectasia Manifested as Unusual Edemas and Effusions: A Case Report.
MedicineSecondary hypogammaglobulinemia in Waldmann's disease treated with subcutaneous immunoglobulins.
European annals of allergy and clinical immunologyEverolimus for Primary Intestinal Lymphangiectasia With Protein-Losing Enteropathy.
PediatricsSevere Refractory Anemia in Primary Intestinal Lymphangiectasia. A Case Report.
Journal of gastrointestinal and liver diseases : JGLDPrimary intestinal lymphangiectasia with generalized warts.
World journal of gastroenterologyGastroenterology: Primary intestinal lymphangiectasia of the terminal ileum.
Journal of gastroenterology and hepatologySurgical therapy of primary intestinal lymphangiectasia in adults.
Journal of surgical case reportsHow to treat an extensive form of primary intestinal lymphangiectasia?
World journal of gastroenterology[Surgical treatment of rare combination of intestinal malrotation with secondary lymphangiectasia].
Vestnik Rossiiskoi akademii meditsinskikh naukPrimary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).
American journal of medical genetics. Part AA novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
BMC medical genetics[Protein-losing enteropathy].
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Primary intestinal lymphangiectasia presenting with intussusception in a child.
- Clinical presentation, treatment, and outcome of children with primary intestinal lymphangiectasia: A national retrospective study.
- An unusual etiology of diarrhea: primary intestinal lymphangiectasia.
- Primary intestinal lymphangiectasia in a 5-month-old boy.
- Uncommon association of familial short stature with primary intestinal lymphangiectasia.
- Primary Intestinal Lymphangiectasia Presenting as Recurrent Chylous Ascites: A Rare Case.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:90362(Orphanet)
- OMIM OMIM:152800(OMIM)
- MONDO:0007916(MONDO)
- GARD:7873(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q7961531(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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