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Primary intestinal lymphangiectasia

MedGen UID:
444009
•Concept ID:
C2931241
•
Disease or Syndrome
Synonyms: Familial Waldmann's disease (type); Primary intestinal lymphangiectasis; Waldmann disease; Waldmann's disease
SNOMED CT: Primary intestinal lymphangiectasia (6124009); Intestinal lymphatic obstruction (6124009); Primary lymphangiectasis of intestine (6124009)
 
Monarch Initiative: MONDO:0007916
OMIM®: 152800
Orphanet: ORPHA90362

Definition

A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children. [from ORDO]

Clinical features

From HPO
Pedal edema
MedGen UID:
116085
•Concept ID:
C0239340
•
Pathologic Function
An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
See: Feature record | Search on this feature
Malabsorption
MedGen UID:
811453
•Concept ID:
C3714745
•
Finding
Impaired ability to absorb one or more nutrients from the intestine.
See: Feature record | Search on this feature
Prominent floating ribs
MedGen UID:
870564
•Concept ID:
C4025012
•
Finding
See: Feature record | Search on this feature
Intestinal lymphangiectasia
MedGen UID:
9828
•Concept ID:
C0024215
•
Disease or Syndrome
Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.
See: Feature record | Search on this feature
Lymphopenia
MedGen UID:
7418
•Concept ID:
C0024312
•
Disease or Syndrome
A reduced number of lymphocytes in the blood.
See: Feature record | Search on this feature
Decreased circulating IgG level
MedGen UID:
1720114
•Concept ID:
C5234937
•
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
See: Feature record | Search on this feature
Edema
MedGen UID:
4451
•Concept ID:
C0013604
•
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
See: Feature record | Search on this feature
Neonatal hypoproteinemia
MedGen UID:
870253
•Concept ID:
C4024691
•
Disease or Syndrome
A neonatal decreased concentration of proteins in the blood.
See: Feature record | Search on this feature
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Endoscopic classification and pathological features of primary intestinal lymphangiectasia.
Meng MM, Liu KL, Xue XY, Hao K, Dong J, Yu CK, Liu H, Wang CH, Su H, Lin W, Jiang GJ, Wei N, Wang RG, Shen WB, Wu J
World J Gastroenterol 2022 Jun 14;28(22):2482-2493. doi: 10.3748/wjg.v28.i22.2482. PMID: 35979262Free PMC Article
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 Pediatr 2021 Jan 7;21(1):21. doi: 10.1186/s12887-020-02447-5. PMID: 33407260Free PMC Article
Comparative pathophysiology and management of protein-losing enteropathy.
Craven MD, Washabau RJ
J Vet Intern Med 2019 Mar;33(2):383-402. Epub 2019 Feb 14 doi: 10.1111/jvim.15406. PMID: 30762910Free PMC Article

Recent clinical studies

Etiology

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD
Front Immunol 2023;14:1303251. Epub 2023 Dec 5 doi: 10.3389/fimmu.2023.1303251. PMID: 38116000Free PMC Article
Correlation between capsule endoscopy classification and CT lymphangiography of primary intestinal lymphangiectasia.
Zhao Q, Sun X, Liu K, Peng Y, Jin D, Shen W, Wang R
Clin Radiol 2023 Mar;78(3):219-226. Epub 2022 Dec 9 doi: 10.1016/j.crad.2022.10.001. PMID: 36509551
Endoscopic classification and pathological features of primary intestinal lymphangiectasia.
Meng MM, Liu KL, Xue XY, Hao K, Dong J, Yu CK, Liu H, Wang CH, Su H, Lin W, Jiang GJ, Wei N, Wang RG, Shen WB, Wu J
World J Gastroenterol 2022 Jun 14;28(22):2482-2493. doi: 10.3748/wjg.v28.i22.2482. PMID: 35979262Free PMC Article
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 Pediatr 2021 Jan 7;21(1):21. doi: 10.1186/s12887-020-02447-5. PMID: 33407260Free PMC Article
Primary intestinal lymphangiectasia: Multiple detector computed tomography findings after direct lymphangiography.
Sun X, Shen W, Chen X, Wen T, Duan Y, Wang R
J Med Imaging Radiat Oncol 2017 Oct;61(5):607-613. Epub 2017 Mar 27 doi: 10.1111/1754-9485.12606. PMID: 28345300

Diagnosis

Correlation between capsule endoscopy classification and CT lymphangiography of primary intestinal lymphangiectasia.
Zhao Q, Sun X, Liu K, Peng Y, Jin D, Shen W, Wang R
Clin Radiol 2023 Mar;78(3):219-226. Epub 2022 Dec 9 doi: 10.1016/j.crad.2022.10.001. PMID: 36509551
Primary intestinal lymphangiectasia in children: Twelve years of experience in the diagnosis and management.
Niu Y, Wu Q, Wang Y, Lu L, Feng Y, Cai W, Tang Q
Asia Pac J Clin Nutr 2021 Sep;30(3):358-364. doi: 10.6133/apjcn.202109_30(3).0002. PMID: 34587695
Primary intestinal lymphangiectasia in children: A review.
Lopez RN, Day AS
J Paediatr Child Health 2020 Nov;56(11):1719-1723. Epub 2020 May 28 doi: 10.1111/jpc.14837. PMID: 32463559
Clinical practice. Protein-losing enteropathy in children.
Braamskamp MJ, Dolman KM, Tabbers MM
Eur J Pediatr 2010 Oct;169(10):1179-85. Epub 2010 Jun 23 doi: 10.1007/s00431-010-1235-2. PMID: 20571826Free PMC Article
Primary intestinal lymphangiectasia (Waldmann's disease).
Vignes S, Bellanger J
Orphanet J Rare Dis 2008 Feb 22;3:5. doi: 10.1186/1750-1172-3-5. PMID: 18294365Free PMC Article

Therapy

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD
Front Immunol 2023;14:1303251. Epub 2023 Dec 5 doi: 10.3389/fimmu.2023.1303251. PMID: 38116000Free PMC Article
Endoscopic classification and pathological features of primary intestinal lymphangiectasia.
Meng MM, Liu KL, Xue XY, Hao K, Dong J, Yu CK, Liu H, Wang CH, Su H, Lin W, Jiang GJ, Wei N, Wang RG, Shen WB, Wu J
World J Gastroenterol 2022 Jun 14;28(22):2482-2493. doi: 10.3748/wjg.v28.i22.2482. PMID: 35979262Free PMC Article
Primary Intestinal Lymphangiectasia Manifested as Unusual Edemas and Effusions: A Case Report.
Wang X, Jin H, Wu W
Medicine (Baltimore) 2016 Mar;95(10):e2849. doi: 10.1097/MD.0000000000002849. PMID: 26962779Free PMC Article
Primary intestinal lymphangiectasia with generalized warts.
Lee SJ, Song HJ, Boo SJ, Na SY, Kim HU, Hyun CL
World J Gastroenterol 2015 Jul 21;21(27):8467-72. doi: 10.3748/wjg.v21.i27.8467. PMID: 26217101Free PMC Article
Primary intestinal lymphangiectasia in children: is octreotide an effective and safe option in the treatment?
Sari S, Baris Z, Dalgic B
J Pediatr Gastroenterol Nutr 2010 Oct;51(4):454-7. doi: 10.1097/MPG.0b013e3181d1b162. PMID: 20512058

Prognosis

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD
Front Immunol 2023;14:1303251. Epub 2023 Dec 5 doi: 10.3389/fimmu.2023.1303251. PMID: 38116000Free PMC Article
Nutritional therapy and effect assessment of infants with primary intestinal lymphangiectasia: Case reports.
Li S, Liu X, He Y, Li Q, Ji L, Shen W, Tong G
Medicine (Baltimore) 2017 Dec;96(51):e9240. doi: 10.1097/MD.0000000000009240. PMID: 29390480Free PMC Article
How to treat an extensive form of primary intestinal lymphangiectasia?
Troskot R, Jurčić D, Bilić A, Gomerčić Palčić M, Težak S, Brajković I
World J Gastroenterol 2015 Jun 21;21(23):7320-5. doi: 10.3748/wjg.v21.i23.7320. PMID: 26109821Free PMC Article
Clinical outcome of nutrition-oriented intervention for primary intestinal lymphangiectasia.
Tang QY, Wen J, Wu J, Wang Y, Cai W
World J Pediatr 2011 Feb;7(1):79-82. Epub 2010 Dec 30 doi: 10.1007/s12519-011-0248-x. PMID: 21191781
Clinical practice. Protein-losing enteropathy in children.
Braamskamp MJ, Dolman KM, Tabbers MM
Eur J Pediatr 2010 Oct;169(10):1179-85. Epub 2010 Jun 23 doi: 10.1007/s00431-010-1235-2. PMID: 20571826Free PMC Article

Clinical prediction guides

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD
Front Immunol 2023;14:1303251. Epub 2023 Dec 5 doi: 10.3389/fimmu.2023.1303251. PMID: 38116000Free PMC Article
Correlation between capsule endoscopy classification and CT lymphangiography of primary intestinal lymphangiectasia.
Zhao Q, Sun X, Liu K, Peng Y, Jin D, Shen W, Wang R
Clin Radiol 2023 Mar;78(3):219-226. Epub 2022 Dec 9 doi: 10.1016/j.crad.2022.10.001. PMID: 36509551
Endoscopic classification and pathological features of primary intestinal lymphangiectasia.
Meng MM, Liu KL, Xue XY, Hao K, Dong J, Yu CK, Liu H, Wang CH, Su H, Lin W, Jiang GJ, Wei N, Wang RG, Shen WB, Wu J
World J Gastroenterol 2022 Jun 14;28(22):2482-2493. doi: 10.3748/wjg.v28.i22.2482. PMID: 35979262Free PMC Article
Primary intestinal lymphangiectasia: four case reports and a review of the literature.
Wen J, Tang Q, Wu J, Wang Y, Cai W
Dig Dis Sci 2010 Dec;55(12):3466-72. Epub 2010 Mar 3 doi: 10.1007/s10620-010-1161-1. PMID: 20198428
Primary intestinal lymphangiectasia (Waldmann's disease).
Vignes S, Bellanger J
Orphanet J Rare Dis 2008 Feb 22;3:5. doi: 10.1186/1750-1172-3-5. PMID: 18294365Free PMC Article

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