Research & Literature

[Protein-losing enteropathy].

Amiot A

La Revue de medecine interne 2015; (36(7)):467-73.

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

Frosk P, Chodirker B, Simard L, et al.

BMC medical genetics 2015; (16()):28 doi:10.1186/s12881-015-0175-0.

Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).

Pollack SF, Geffrey AL, Thiele EA, Shah U

American journal of medical genetics. Part A 2015; (167A(9)):2209-12 doi:10.1002/ajmg.a.37148.

Surgical therapy of primary intestinal lymphangiectasia in adults.

Huber T, Paschold M, Eckardt AJ, et al.

Journal of surgical case reports 2015; (2015(7)).

Primary intestinal lymphangiectasia with generalized warts.

Lee SJ, Song HJ, Boo SJ, et al.

World journal of gastroenterology 2015; (21(27)):8467-72 doi:10.3748/wjg.v21.i27.8467.

Severe Refractory Anemia in Primary Intestinal Lymphangiectasia. A Case Report.

Balaban VD, Popp A, Grasu M, et al.

Journal of gastrointestinal and liver diseases : JGLD 2015; (24(3)):369-73 doi:10.15403/jgld.2014.1121.243.bal.

Intestinal lymphangiectasia in children. A favorable response to dietary modifications.

Isa HM, Al-Arayedh GG, Mohamed AM

Saudi medical journal 2016; (37(2)):199-204 doi:10.15537/smj.2016.2.13232.

Secondary hypogammaglobulinemia in Waldmann's disease treated with subcutaneous immunoglobulins.

Patuzzo G, Tinazzi E, Micheletti M, et al.

European annals of allergy and clinical immunology 2016; (48(2)):55-7.

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

Wang X, Jin H, Wu W

Medicine 2016; (95(10)):e2849 doi:10.1097/MD.0000000000002849.

Primary intestinal lymphangiectasia: Multiple detector computed tomography findings after direct lymphangiography.

Sun X, Shen W, Chen X, et al.

Journal of medical imaging and radiation oncology 2017; (61(5)):607-613 doi:10.1111/1754-9485.12606.

Lymphatic deletion of calcitonin receptor-like receptor exacerbates intestinal inflammation.

Davis RB, Kechele DO, Blakeney ES, et al.

JCI insight 2017; (2(6)):e92465.

Waldmann's disease: a rare cause of protein losing enteropathy in an adult patient.

Martins CR, Gagnaire A, Rostain F, Lepage C

Revista espanola de enfermedades digestivas 2017; (109(5)):385-388 doi:10.17235/reed.2017.4593/2016.

Waldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect.

Aroor S, Mundkur S, Kanaparthi S, Kumar S

Journal of clinical and diagnostic research : JCDR 2017; (11(4)):SD03-SD04 doi:10.7860/JCDR/2017/24989.9742.

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

Ozen A, Comrie WA, Ardy RC, et al.

The New England journal of medicine 2017; (377(1)):52-61 doi:10.1056/NEJMoa1615887.

Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report.

Pujol F, Hodgson T, Martinez-Corral I, et al.

Arteriosclerosis, thrombosis, and vascular biology 2017; (37(9)):1732-1735 doi:10.1161/ATVBAHA.117.309818.

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

Huber X, Degen L, Muenst S, Trendelenburg M

Medicine 2017; (96(31)):e7729 doi:10.1097/MD.0000000000007729.

Rapamycin reversal of VEGF-C-driven lymphatic anomalies in the respiratory tract.

Baluk P, Yao LC, Flores JC, et al.

JCI insight 2017; (2(16)).

[Primary intestinal lymphangiectasia (Waldmann's disease)].

Vignes S, Bellanger J

La Revue de medecine interne 2018; (39(7)):580-585 doi:10.1016/j.revmed.2017.07.009.

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Brouillard P, Dupont L, Helaers R, et al.

Human molecular genetics 2017; (26(21)):4095-4104 doi:10.1093/hmg/ddx297.

Case report of primary intestinal lymphangiectasia diagnosed in an octogenarian by ileal intubation and by push enteroscopy after missed diagnosis by standard colonoscopy and EGD.

Cappell MS, Edhi A, Amin M

Medicine 2018; (97(3)):e9649 doi:10.1097/MD.0000000000009649.

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.

Ivanovski I, Akbaroghli S, Pollazzon M, et al.

American journal of medical genetics. Part A 2018; (176(5)):1166-1174 doi:10.1002/ajmg.a.38652.

Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency.

Kurolap A, Eshach Adiv O, Hershkovitz T, et al.

Journal of pediatric gastroenterology and nutrition 2019; (68(3)):325-333 doi:10.1097/MPG.0000000000002198.

Milky Mesentery: Acute Abdomen with Chylous Ascites.

Goel A, Gaur MK, Garg PK

Indian pediatrics 2018; (55(10)):909-910.

An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3.

Scheuerle AE, Sweed NT, Timmons CF, et al.

American journal of medical genetics. Part A 2018; (176(12)):2858-2861 doi:10.1002/ajmg.a.40633.

Novel Magnified Single-Balloon Enteroscopy Enables Observation of Jejunal White Spots Associated with Lymphangiectasia.

Tominaga K, Tsuchiya A, Kawata Y, et al.

Digestive diseases (Basel, Switzerland) 2019; (37(2)):170-174 doi:10.1159/000493578.

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

Ozen A

Immunological reviews 2019; (287(1)):20-32 doi:10.1111/imr.12715.

Pediatric localized intestinal lymphangiectasia treated with resection.

Mari J, Kovacs T, Pasztor G, et al.

International medical case reports journal 2019; (12()):23-27 doi:10.2147/IMCRJ.S192940.

Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy.

Ye Z, Huang Y, Wang Y, et al.

The Journal of pediatrics 2019; (208()):38-42.e3 doi:10.1016/j.jpeds.2018.12.003.

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

Prasad D, Srivastava A, Tambe A, et al.

Digestive diseases (Basel, Switzerland) 2019; (37(6)):458-466 doi:10.1159/000499450.

Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights.

Ozeki M, Fukao T

Advances in wound care 2019; (8(6)):230-245 doi:10.1089/wound.2018.0850.

Updates on bone health in children with gastrointestinal diseases.

Yang HR

Annals of pediatric endocrinology & metabolism 2020; (25(1)):10-14 doi:10.6065/apem.2020.25.1.10.

Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report.

Lin WH, Zhang ZH, Wang HL, et al.

World journal of clinical cases 2020; (8(10)):1995-2000 doi:10.12998/wjcc.v8.i10.1995.

Primary intestinal lymphangiectasia diagnosed by video capsule endoscopy in a patient with immunodeficiency presenting with Morganella morganii bacteraemia.

Cunningham JM, Nepal S, Truesdale AE

BMJ case reports 2020; (13(9)) doi:10.1136/bcr-2020-235898.

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

Kwon Y, Kim ES, Choe YH, Kim MJ

BMC pediatrics 2021; (21(1)):21 doi:10.1186/s12887-020-02447-5.

Primary intestinal lymphangiectasia in an adult patient: A case report and review of literature.

Huber R, Semmler G, Mayr A, et al.

World journal of gastroenterology 2020; (26(48)):7707-7718 doi:10.3748/wjg.v26.i48.7707.

The diagnostic value of capsule endoscopy in children with intestinal lymphangiectasia.

Wu J, Huang Z, Ji M, et al.

Revista espanola de enfermedades digestivas 2021; (113(11)):765-769 doi:10.17235/reed.2021.7682/2020.

Refractory primary intestinal lymphangiectasia effectively managed with subcutaneous octreotide.

Halim A, Youd P, Thorpe J, Halim I

BMJ case reports 2021; (14(4)) doi:10.1136/bcr-2020-238457.

Therapeutic Lymphatic Embolization in Pediatric Primary Intestinal Lymphangiectasia.

Kwon Y, Kim ES, Choe YH, et al.

Yonsei medical journal 2021; (62(5)):470-473 doi:10.3349/ymj.2021.62.5.470.

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

Khayat AA

BMC gastroenterology 2021; (21(1)):225 doi:10.1186/s12876-021-01813-6.

Home parenteral nutrition a life-saving therapy in a primary intestinal lymphangiectasia patient affecting the entire GI tract - 3 year follow-up case report.

Mańkowska-Wierzbicka D, Kloska M, Karwowska K, et al.

Annals of medicine and surgery (2012) 2021; (67()):102483 doi:10.1016/j.amsu.2021.102483.

An unusual cause of heparin resistance - A case report.

Raja J, Baruah SD, Santhosh V, et al.

Annals of cardiac anaesthesia 2021; (24(3)):375-377 doi:10.4103/aca.ACA_197_19.

Complicated primary intestinal lymphangiectasia (Waldmann's disease) in a child successfully treated with octreotide: A case report from a low-resource setting.

El Haddar Z, Sbia Y, Rkain M, et al.

Annals of medicine and surgery (2012) 2021; (68()):102588 doi:10.1016/j.amsu.2021.102588.

The Update of Treatment for Primary Intestinal Lymphangiectasia.

Kwon Y, Kim MJ

Pediatric gastroenterology, hepatology & nutrition 2021; (24(5)):413-422 doi:10.5223/pghn.2021.24.5.413.

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

Niu Y, Wu Q, Wang Y, et al.

Asia Pacific journal of clinical nutrition 2021; (30(3)):358-364 doi:10.6133/apjcn.202109_30(3).0002.

A case of primary intestinal lymphangiectasia with non-Hodgkin lymphoma.

Hu D, Cui X, Ren W, et al.

BMC gastroenterology 2021; (21(1)):461 doi:10.1186/s12876-021-01997-x.

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

González Núñez R, Domínguez Carbajo AB, Alcoba Vega L, et al.

Revista espanola de enfermedades digestivas 2022; (114(12)):762-763 doi:10.17235/reed.2022.8673/2022.

Hypomagnesemia in intestinal lymphangiectasia: a case report and review of the literature.

Feng H, Zou L, Zhai X, et al.

BMC gastroenterology 2022; (22(1)):246 doi:10.1186/s12876-022-02318-6.

[CD5-positive diffuse large B-cell lymphoma with gastrointestinal infiltration presenting with protein-losing enteropathy].

Nakayama A, Sakai K, Fujioka Y, et al.

[Rinsho ketsueki] The Japanese journal of clinical hematology 2022; (63(6)):530-535 doi:10.11406/rinketsu.63.530.

Endoscopic classification and pathological features of primary intestinal lymphangiectasia.

Meng MM, Liu KL, Xue XY, et al.

World journal of gastroenterology 2022; (28(22)):2482-2493 doi:10.3748/wjg.v28.i22.2482.

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

Zhao Q, Sun X, Liu K, et al.

Clinical radiology 2023; (78(3)):219-226 doi:10.1016/j.crad.2022.10.001.

Adult-Onset Primary Intestinal Lymphangiectasia With Liver Enzymes Elevation.

Nguyen CD, Buchman A, Bui HH, et al.

ACG case reports journal 2022; (9(12)):e00939 doi:10.14309/crj.0000000000000939.

Polypoid Lymphangiectasia in the Sigmoid Colon: A Case Report of a Rare Entity.

Alshaakh Moh'D Mari A, Varshney A, Recker K, et al.

Cureus 2023; (15(6)):e40632 doi:10.7759/cureus.40632.

Small intestinal mucosal abnormalities using video capsule endoscopy in intestinal lymphangiectasia.

Lin L, Liu K, Liu H, et al.

Orphanet journal of rare diseases 2023; (18(1)):308 doi:10.1186/s13023-023-02914-z.

Sirolimus treatment for intractable lymphatic anomalies: an open-label, single-arm, multicenter, prospective trial.

Ozeki M, Endo S, Yasue S, et al.

Frontiers in medicine 2024; (11()):1335469 doi:10.3389/fmed.2024.1335469.

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

Thapaliya I, Yadav J

Annals of medicine and surgery (2012) 2024; (86(4)):2049-2057 doi:10.1097/MS9.0000000000001850.

Comprehensive nutrition guidelines and management strategies for enteropathy in children.

Savoca ML, Brownell JN

Seminars in pediatric surgery 2024; (33(3)):151425 doi:10.1016/j.sempedsurg.2024.151425.

Intestinal lymphangiectasia: Understanding the bigger picture.

Marrapu S, Kumar R

World journal of clinical cases 2024; (12(18)):3298-3303 doi:10.12998/wjcc.v12.i18.3298.

Protein-losing enteropathy as a result of colon polyposis and colon cancer: a multidisciplinary approach to diagnosis and treatment.

Kuipers H, van Westreenen HL, Moll FCP, de Vos Tot Nederveen Cappel WH

BMJ case reports 2024; (17(8)) doi:10.1136/bcr-2024-261081.

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

Khalil Z, Ali HN, Ibrahim H, Al-Abbedien EZ

Cureus 2024; (16(8)):e66141 doi:10.7759/cureus.66141.

Constrictive Pericarditis and Protein-Losing Enteropathies: Exploring the Heart-Gut Axis.

Birtolo LI, Shahini E

Journal of clinical medicine 2024; (13(17)) doi:10.3390/jcm13175150.

Elderly Onset Primary Intestinal Lymphangiectasia-A Rare Case.

Goh LH, Manoharan M, Goh KL

JGH open : an open access journal of gastroenterology and hepatology 2025; (9(1)):e70102 doi:10.1002/jgh3.70102.

Complement dysregulation at lymphatics.

Ozen A, Can S, Sefer AP, et al.

The Journal of allergy and clinical immunology 2025; (156(2)):205-214 doi:10.1016/j.jaci.2025.04.020.

Secondary Hyperparathyroidism in Primary Intestinal Lymphangiectasia: A Report of Four Cases.

Zhang DX, Hao K, Zhang L, et al.

Gastroenterology research 2025; (18(3)):152-158 doi:10.14740/gr2022.

Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature.

Tian QJ, Zhang LJ, Zhang Q, et al.

World journal of gastroenterology 2025; (31(17)):105347 doi:10.3748/wjg.v31.i17.105347.

Primary intestinal lymphangiectasia: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Vignes S, Uzzan M, Arrivé L, et al.

Orphanet journal of rare diseases 2025; (20(1)):356 doi:10.1186/s13023-025-03657-9.

An unusual etiology of diarrhea: primary intestinal lymphangiectasia.

Dai C, Huang YH

Revista espanola de enfermedades digestivas 2026; (118(2)):118-119 doi:10.17235/reed.2025.11483/2025.

Clinical characterization of primary intestinal lymphangiectasia in infants and young children: a single-center retrospective analysis in China.

Li D, Zhang T, Ye X, et al.

Translational pediatrics 2025; (14(8)):1896-1907 doi:10.21037/tp-2025-187.

Clinical presentation, treatment, and outcome of children with primary intestinal lymphangiectasia: A national retrospective study.

Goret N, Lambe C, Ecochard-Dugelay E, et al.

Journal of pediatric gastroenterology and nutrition 2026; (82(2)):398-406 doi:10.1002/jpn3.70266.

Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia-Lymphedema Syndrome 2.

Mascarenhas S, Gupta Y, K A A, et al.

American journal of medical genetics. Part A 2026; (200(9)):2019-2024 doi:10.1002/ajmg.a.70166.

Playing CATCH-up: a case report of profound protein-losing enteropathy and gastrointestinal haemorrhage from intestinal lymphangiectasia in DiGeorge syndrome.

Carrigan L, Yap J, Cheung M

European heart journal. Case reports 2026; (10(5)):ytag257 doi:10.1093/ehjcr/ytag257.

Primary Intestinal Lymphangiectasia as a cause of secondary combined immunodeficiency: case study and literature review.

Hall RM, Panton LA, Ineus L, et al.

Clinical immunology communications 2026; (9()):133-137 doi:10.1016/j.clicom.2026.05.002.

Protein-losing enteropathy in a child with hypoplastic left heart syndrome after Fontan palliation: a case report.

Saife S, Saife S, Zetawi M

Oxford medical case reports 2026; (2026(8)):omag145 doi:10.1093/omcr/omag145.

Targeted complement inhibition with pozelimab in children with CD55 deficiency.

Grotra R, Bhadani H, Malik R

BMJ case reports 2026; (19(8)) doi:10.1136/bcr-2026-273991.

Successful Early Therapy With Sirolimus for an Infant With Primary Intestinal Lymphangiectasia.

Yamamoto S, Sugino Y, Yamashita T, et al.

Case reports in pediatrics 2026; (2026()):7717714 doi:10.1155/crpe/7717714.

Case Report: Six infants with primary intestinal lymphangiectasia: clinical manifestations of refractory cases and preliminary stratified clinical management experience.

Shi M, Xue N, Tang Y, et al.

Frontiers in pediatrics 2026; (14()):1949058 doi:10.3389/fped.2026.1949058.