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Pulmonary lymphangiectasia

MedGen UID:
340882
Concept ID:
C1855480
Finding
Synonym: Pulmonary lymphangiectasis
 
HPO: HP:0006521

Definition

Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary lymphangiectasia

Conditions with this feature

Congenital pulmonary lymphangiectasia
MedGen UID:
340355
Concept ID:
C1849554
Congenital Abnormality
Pulmonary lymphangiectasia is a rare congenital vascular dysplasia characterized by an increased number of dilated pulmonary lymphatics in the subpleural, peribronchial, and interlobular septa. Respiratory distress is usually noted immediately after birth (summary by Stevenson et al., 2006).
Dahlberg-Borer-Newcomer syndrome
MedGen UID:
383693
Concept ID:
C1855477
Disease or Syndrome
A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.
Mullerian derivatives-lymphangiectasia-polydactyly syndrome
MedGen UID:
343489
Concept ID:
C1856159
Disease or Syndrome
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.
Alveolar capillary dysplasia with pulmonary venous misalignment
MedGen UID:
755478
Concept ID:
C2960310
Congenital Abnormality
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).
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).
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
MedGen UID:
1373459
Concept ID:
C4317151
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

Professional guidelines

PubMed

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
Lackner H, Karastaneva A, Schwinger W, Benesch M, Sovinz P, Seidel M, Sperl D, Lanz S, Haxhija E, Reiterer F, Sorantin E, Urban CE
Eur J Pediatr 2015 Dec;174(12):1579-84. Epub 2015 Jun 4 doi: 10.1007/s00431-015-2572-y. PMID: 26040705

Recent clinical studies

Etiology

Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
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
Itkin M, McCormack FX
Clin Chest Med 2016 Sep;37(3):409-20. doi: 10.1016/j.ccm.2016.04.004. PMID: 27514588
Chowdhury MM, Chakraborty S
Semin Pediatr Surg 2015 Aug;24(4):168-75. Epub 2015 Feb 27 doi: 10.1053/j.sempedsurg.2015.02.001. PMID: 26051049

Diagnosis

Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Yuan SM
J Perinat Med 2017 Dec 20;45(9):1023-1030. doi: 10.1515/jpm-2016-0407. PMID: 28258976
Itkin M, McCormack FX
Clin Chest Med 2016 Sep;37(3):409-20. doi: 10.1016/j.ccm.2016.04.004. PMID: 27514588
Chowdhury MM, Chakraborty S
Semin Pediatr Surg 2015 Aug;24(4):168-75. Epub 2015 Feb 27 doi: 10.1053/j.sempedsurg.2015.02.001. PMID: 26051049
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

Therapy

Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
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
Lackner H, Karastaneva A, Schwinger W, Benesch M, Sovinz P, Seidel M, Sperl D, Lanz S, Haxhija E, Reiterer F, Sorantin E, Urban CE
Eur J Pediatr 2015 Dec;174(12):1579-84. Epub 2015 Jun 4 doi: 10.1007/s00431-015-2572-y. PMID: 26040705
Malleske DT, Yoder BA
J Perinatol 2015 May;35(5):384-6. doi: 10.1038/jp.2015.10. PMID: 25917021
Gray M, Kovatis KZ, Stuart T, Enlow E, Itkin M, Keller MS, French HM
J Perinatol 2014 Sep;34(9):720-2. doi: 10.1038/jp.2014.71. PMID: 25179384

Prognosis

Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Yuan SM
J Perinat Med 2017 Dec 20;45(9):1023-1030. doi: 10.1515/jpm-2016-0407. PMID: 28258976
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
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: 17074089Free PMC Article
Esther CR Jr, Barker PM
Pediatr Pulmonol 2004 Oct;38(4):308-13. doi: 10.1002/ppul.20100. PMID: 15334508

Clinical prediction guides

Maruyama W, Kawasaki Y, Murakami Y, Fujino M, Sasaki T, Nakamura K, Ehara E
Echocardiography 2022 Feb;39(2):375-380. Epub 2022 Jan 6 doi: 10.1111/echo.15272. PMID: 34994012
Barrera CA, Johnson AM, Rychik J, Biko DM, Degenhardt K, Moldenhauer JS, Victoria T
Pediatr Radiol 2021 Sep;51(10):1809-1817. Epub 2021 Apr 15 doi: 10.1007/s00247-021-05061-4. PMID: 33856503
Lam CZ, Bhamare TA, Gazzaz T, Manson D, Humpl T, Seed M
Pediatr Radiol 2017 Oct;47(11):1441-1451. Epub 2017 Jun 19 doi: 10.1007/s00247-017-3892-z. PMID: 28631156
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
Lackner H, Karastaneva A, Schwinger W, Benesch M, Sovinz P, Seidel M, Sperl D, Lanz S, Haxhija E, Reiterer F, Sorantin E, Urban CE
Eur J Pediatr 2015 Dec;174(12):1579-84. Epub 2015 Jun 4 doi: 10.1007/s00431-015-2572-y. PMID: 26040705

Recent systematic reviews

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

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