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Pleural lymphangiectasia

MedGen UID:: 343483
•Concept ID:: C1856139
•: Finding

HPO:	HP:0006531

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPleural lymphangiectasia

Phenotypic abnormality
- Abnormality of the immune system
  - Abnormality of the lymphatic system
    - Abnormal lymphatic vessel morphology
      - Lymphangiectasis
        Pleural lymphangiectasia

Conditions with this feature

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.

See: Condition Record

Hennekam lymphangiectasia-lymphedema syndrome 1

Professional guidelines

PubMed

Chylothorax: A Stepwise Approach to Diagnosis and Treatment.

Jackson S, Jnah AJ
Neonatal Netw 2021 Nov 1;40(6):386-392. doi: 10.1891/11-T-705. PMID: 34845089

CT Lymphangiography (CTL) in Primary Intestinal Lymphangiectasia (PIL): A Comparative Study with Intraoperative Enteroscopy (IOE).

Dong J, Xin J, Shen W, Wen T, Chen X, Sun Y, Wang R
Acad Radiol 2019 Feb;26(2):275-281. Epub 2018 Jun 6 doi: 10.1016/j.acra.2018.04.023. PMID: 29885759

Interventional Treatment of Pulmonary Lymphatic Anomalies.

Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

See all (3)

Recent clinical studies

Etiology

MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome.

Pieper CC, Wagenpfeil J, Henkel A, Geiger S, Köster T, Hoss K, Luetkens JA, Hart C, Attenberger UI, Müller A
Sci Rep 2022 Jul 1;12(1):11164. doi: 10.1038/s41598-022-13806-w. PMID: 35778409 Free PMC Article

Congenital Chylothorax of the Newborn: A Systematic Analysis of Published Cases between 1990 and 2018.

Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211 Free PMC Article

Chylothorax: A Stepwise Approach to Diagnosis and Treatment.

Jackson S, Jnah AJ
Neonatal Netw 2021 Nov 1;40(6):386-392. doi: 10.1891/11-T-705. PMID: 34845089

Congenital Pulmonary Lymphangiectasia: A Disorder not only of Fetoneonates.

Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185

Interventional Treatment of Pulmonary Lymphatic Anomalies.

Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

See all (20)

Diagnosis

Imaging Findings of Thoracic Lymphatic Abnormalities.

Sun JD, Shum T, Behzadi F, Hammer MM
Radiographics 2022 Sep-Oct;42(5):1265-1282. Epub 2022 Aug 12 doi: 10.1148/rg.220040. PMID: 35960666

Interventional Treatment of Pulmonary Lymphatic Anomalies.

Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

Congenital pulmonary lymphangiectasis.

Reiterer F, Grossauer K, Morris N, Uhrig S, Resch B
Paediatr Respir Rev 2014 Sep;15(3):275-80. Epub 2014 May 29 doi: 10.1016/j.prrv.2014.05.002. PMID: 24997116

Congenital pulmonary lymphangiectasia.

Bellini C, Boccardo F, Campisi C, Bonioli E
Orphanet J Rare Dis 2006 Oct 30;1:43. doi: 10.1186/1750-1172-1-43. PMID: 17074089 Free PMC Article

Pulmonary lymphangiectasia.

Bellini C, Boccardo F, Campisi C, Toma P, Taddei G, Villa G, Nozza P, Serra G, Bonioli E
Lymphology 2005 Sep;38(3):111-21. PMID: 16353488

See all (75)

Therapy

Congenital Chylothorax of the Newborn: A Systematic Analysis of Published Cases between 1990 and 2018.

Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211 Free PMC Article

A 34-Year-Old Man With a Chylothorax and Bony Pain.

O'Callaghan M, Fabre A, McCann J, Healy G, McCarthy A, Keane MP, McDonnell TJ, McCarthy C
Chest 2020 Apr;157(4):e131-e136. doi: 10.1016/j.chest.2019.10.033. PMID: 32252938

Interventional Treatment of Pulmonary Lymphatic Anomalies.

Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

Lupus protein-losing enteropathy (LUPLE): a systematic review.

Al-Mogairen SM
Rheumatol Int 2011 Aug;31(8):995-1001. Epub 2011 Feb 23 doi: 10.1007/s00296-011-1827-9. PMID: 21344315

Primary intestinal and thoracic lymphangiectasia: a response to antiplasmin therapy.

MacLean JE, Cohen E, Weinstein M
Pediatrics 2002 Jun;109(6):1177-80. doi: 10.1542/peds.109.6.1177. PMID: 12042562

See all (18)

Prognosis

Congenital Pulmonary Lymphangiectasia: A Disorder not only of Fetoneonates.

Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185

Interventional Treatment of Pulmonary Lymphatic Anomalies.

Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

Lupus protein-losing enteropathy (LUPLE): a systematic review.

Al-Mogairen SM
Rheumatol Int 2011 Aug;31(8):995-1001. Epub 2011 Feb 23 doi: 10.1007/s00296-011-1827-9. PMID: 21344315

Congenital pulmonary lymphangiectasis.

Xiao ZY, Tao Y, Tang XY, Chen GJ, Guo L
World J Pediatr 2009 Feb;5(1):68-70. Epub 2009 Jan 27 doi: 10.1007/s12519-009-0014-5. PMID: 19172338

Congenital pulmonary lymphangiectasia.

Bellini C, Boccardo F, Campisi C, Bonioli E
Orphanet J Rare Dis 2006 Oct 30;1:43. doi: 10.1186/1750-1172-1-43. PMID: 17074089 Free PMC Article

See all (31)

Clinical prediction guides

Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences.

Ji Y, Chen S, Peng S, Xia C, Li L
Orphanet J Rare Dis 2019 Jul 5;14(1):165. doi: 10.1186/s13023-019-1147-9. PMID: 31277673 Free PMC Article

A primary intestinal lymphangiectasia hiding the diagnosis of pleural and pericardial tuberculosis: a clinical observation.

Hammi S, Berrani H, Benouchen T, Lamlami N, Elkhiyat I, Bourkadi JE
Pan Afr Med J 2017;26:89. Epub 2017 Feb 23 doi: 10.11604/pamj.2017.26.89.11125. PMID: 28491220 Free PMC Article

Interventional Treatment of Pulmonary Lymphatic Anomalies.

Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

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: 18294365 Free PMC Article

Intestinal lymphangiectasia and bilateral pleural effusions: effect of dietary therapy and surgical intervention on immunologic and pulmonary parameters.

Lester LA, Rothberg RM, Krantman HJ, Shermeta DW
J Allergy Clin Immunol 1986 Nov;78(5 Pt 1):891-7. doi: 10.1016/0091-6749(86)90236-8. PMID: 3782656

See all (14)