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Intestinal lymphangiectasia

MedGen UID:
9828
Concept ID:
C0024215
Disease or Syndrome
Synonym: Intestinal lymphangiectasis
SNOMED CT: Intestinal lymphangiectasis (197260007); Intestinal lymphangiectasia (197260007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0002593
Monarch Initiative: MONDO:0018178
OMIM®: 152800
Orphanet: ORPHA36204

Definition

Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. [from HPO]

Term Hierarchy

Conditions with this feature

Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
MedGen UID:
349241
Concept ID:
C1859753
Disease or Syndrome
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Primary intestinal lymphangiectasia
MedGen UID:
444009
Concept ID:
C2931241
Disease or Syndrome
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.
Hennekam lymphangiectasia-lymphedema syndrome 1
MedGen UID:
860487
Concept ID:
C4012050
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13.
Hennekam lymphangiectasia-lymphedema syndrome 2
MedGen UID:
863376
Concept ID:
C4014939
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).
Lymphatic malformation 6
MedGen UID:
908120
Concept ID:
C4225184
Disease or Syndrome
Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.

Professional guidelines

PubMed

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
Sanges S, Germain N, Vignes S, Séguy D, Stabler S, Etienne N, Terriou L, Launay D, Hachulla É, Huglo D, Dubucquoi S, Labalette M, Lefèvre G
J Clin Immunol 2022 Oct;42(7):1461-1472. Epub 2022 Jun 23 doi: 10.1007/s10875-022-01299-1. PMID: 35737255
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

Lin L, Liu K, Liu H, Xin J, Sun Y, Xia S, Shen W, Wu J
Orphanet J Rare Dis 2023 Oct 2;18(1):308. doi: 10.1186/s13023-023-02914-z. PMID: 37784188Free PMC Article
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
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
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
Shimkin PM, Waldmann TA, Krugman RL
Am J Roentgenol Radium Ther Nucl Med 1970 Dec;110(4):827-41. doi: 10.2214/ajr.110.4.827. PMID: 5486217

Clinical prediction guides

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
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
Alshikho MJ, Talas JM, Noureldine SI, Zazou S, Addas A, Kurabi H, Nasser M
Am J Case Rep 2016 Jul 21;17:512-22. doi: 10.12659/ajcr.899636. PMID: 27440277Free PMC Article
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
Vignes S, Bellanger J
Orphanet J Rare Dis 2008 Feb 22;3:5. doi: 10.1186/1750-1172-3-5. PMID: 18294365Free PMC Article

Recent systematic reviews

Feng H, Zou L, Zhai X, Zhang S, Li J
BMC Gastroenterol 2022 May 15;22(1):246. doi: 10.1186/s12876-022-02318-6. PMID: 35570283Free PMC Article

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