U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Diffuse lymphatic malformation

MedGen UID:
825766
•Concept ID:
C3839921
•
Anatomical Abnormality
Synonyms: Diffuse lymphangioma; diffuse lymphangioma; Diffuse lymphangiomatosis; diffuse lymphangiomatosis; diffuse lymphatic malformation; Disseminated lymphangioma; disseminated lymphangioma; Disseminated lymphangiomatosis; disseminated lymphangiomatosis; Disseminated lymphatic malformation; disseminated lymphatic malformation; generalised lymphatic anomaly; Generalized lymphatic anomaly; generalized lymphatic anomaly; GLA; Gla
SNOMED CT: Diffuse lymphatic malformation (703298001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0015408
Orphanet: ORPHA141209

Definition

A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Diffuse lymphatic malformation

Professional guidelines

PubMed

Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment.
Snyder EJ, Sarma A, Borst AJ, Tekes A
AJR Am J Roentgenol 2022 Jun;218(6):1089-1101. Epub 2022 Jan 19 doi: 10.2214/AJR.21.27200. PMID: 35043669
ACR Appropriateness Criteria® Clinically Suspected Vascular Malformation of the Extremities.
Expert Panel on Vascular Imaging, Obara P, McCool J, Kalva SP, Majdalany BS, Collins JD, Eldrup-Jorgensen J, Ganguli S, Gunn AJ, Kendi AT, Khaja MS, Sutphin PD, Vijay K, Dill KE
J Am Coll Radiol 2019 Nov;16(11S):S340-S347. doi: 10.1016/j.jacr.2019.05.013. PMID: 31685102
The Management of Vascular Malformations of the Airway: Natural History, Investigations, Medical, Surgical and Radiological Management.
Klosterman T, O TM
Otolaryngol Clin North Am 2018 Feb;51(1):213-223. doi: 10.1016/j.otc.2017.09.013. PMID: 29217064

Recent clinical studies

Etiology

Small intestinal mucosal abnormalities using video capsule endoscopy in intestinal lymphangiectasia.
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
Intermittent Administration Regimen of Sirolimus for Refractory Cervicofacial Lymphatic Malformation.
Gao Q, Chen H, Sun B, Cui J, Shen W
J Craniofac Surg 2022 May 1;33(3):850-854. Epub 2021 Sep 17 doi: 10.1097/SCS.0000000000008063. PMID: 34538791
Clinicoradiologic predictors of sclerotherapy response in low-flow vascular malformations.
Bagga B, Goyal A, Das A, Bhalla AS, Kandasamy D, Singhal M, Kairo A
J Vasc Surg Venous Lymphat Disord 2021 Jan;9(1):209-219.e2. Epub 2020 Jul 9 doi: 10.1016/j.jvsv.2020.03.011. PMID: 32653406
Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.
Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D
Chest 2020 Aug;158(2):681-691. Epub 2020 Mar 24 doi: 10.1016/j.chest.2020.02.058. PMID: 32220591
Lymphatic malformation: risk of progression during childhood and adolescence.
Hassanein AH, Mulliken JB, Fishman SJ, Quatrano NA, Zurakowski D, Greene AK
J Craniofac Surg 2012 Jan;23(1):149-52. doi: 10.1097/SCS.0b013e3182413ea8. PMID: 22337394

Diagnosis

Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment.
Snyder EJ, Sarma A, Borst AJ, Tekes A
AJR Am J Roentgenol 2022 Jun;218(6):1089-1101. Epub 2022 Jan 19 doi: 10.2214/AJR.21.27200. PMID: 35043669
ACR Appropriateness Criteria® Clinically Suspected Vascular Malformation of the Extremities.
Expert Panel on Vascular Imaging, Obara P, McCool J, Kalva SP, Majdalany BS, Collins JD, Eldrup-Jorgensen J, Ganguli S, Gunn AJ, Kendi AT, Khaja MS, Sutphin PD, Vijay K, Dill KE
J Am Coll Radiol 2019 Nov;16(11S):S340-S347. doi: 10.1016/j.jacr.2019.05.013. PMID: 31685102
Pediatric lymphangiectasia: an imaging spectrum.
Malone LJ, Fenton LZ, Weinman JP, Anagnost MR, Browne LP
Pediatr Radiol 2015 Apr;45(4):562-9. Epub 2014 Oct 10 doi: 10.1007/s00247-014-3191-x. PMID: 25301383
Laboratory models for the investigation of lymphangiomatosis.
Rockson SG
Microvasc Res 2014 Nov;96:64-7. Epub 2014 Aug 28 doi: 10.1016/j.mvr.2014.08.007. PMID: 25173588
MR imaging of the spleen: spectrum of abnormalities.
Elsayes KM, Narra VR, Mukundan G, Lewis JS Jr, Menias CO, Heiken JP
Radiographics 2005 Jul-Aug;25(4):967-82. doi: 10.1148/rg.254045154. PMID: 16009818

Therapy

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
Intermittent Administration Regimen of Sirolimus for Refractory Cervicofacial Lymphatic Malformation.
Gao Q, Chen H, Sun B, Cui J, Shen W
J Craniofac Surg 2022 May 1;33(3):850-854. Epub 2021 Sep 17 doi: 10.1097/SCS.0000000000008063. PMID: 34538791
Clinicoradiologic predictors of sclerotherapy response in low-flow vascular malformations.
Bagga B, Goyal A, Das A, Bhalla AS, Kandasamy D, Singhal M, Kairo A
J Vasc Surg Venous Lymphat Disord 2021 Jan;9(1):209-219.e2. Epub 2020 Jul 9 doi: 10.1016/j.jvsv.2020.03.011. PMID: 32653406
Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.
Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D
Chest 2020 Aug;158(2):681-691. Epub 2020 Mar 24 doi: 10.1016/j.chest.2020.02.058. PMID: 32220591
Morphology and Function of the Lymphatic Vasculature in Patients With a Fontan Circulation.
Mohanakumar S, Telinius N, Kelly B, Lauridsen H, Boedtkjer D, Pedersen M, de Leval M, Hjortdal V
Circ Cardiovasc Imaging 2019 Apr;12(4):e008074. doi: 10.1161/CIRCIMAGING.118.008074. PMID: 30943769

Prognosis

Intermittent Administration Regimen of Sirolimus for Refractory Cervicofacial Lymphatic Malformation.
Gao Q, Chen H, Sun B, Cui J, Shen W
J Craniofac Surg 2022 May 1;33(3):850-854. Epub 2021 Sep 17 doi: 10.1097/SCS.0000000000008063. PMID: 34538791
Clinicoradiologic predictors of sclerotherapy response in low-flow vascular malformations.
Bagga B, Goyal A, Das A, Bhalla AS, Kandasamy D, Singhal M, Kairo A
J Vasc Surg Venous Lymphat Disord 2021 Jan;9(1):209-219.e2. Epub 2020 Jul 9 doi: 10.1016/j.jvsv.2020.03.011. PMID: 32653406
Morphology and Function of the Lymphatic Vasculature in Patients With a Fontan Circulation.
Mohanakumar S, Telinius N, Kelly B, Lauridsen H, Boedtkjer D, Pedersen M, de Leval M, Hjortdal V
Circ Cardiovasc Imaging 2019 Apr;12(4):e008074. doi: 10.1161/CIRCIMAGING.118.008074. PMID: 30943769
Pediatric lymphangiectasia: an imaging spectrum.
Malone LJ, Fenton LZ, Weinman JP, Anagnost MR, Browne LP
Pediatr Radiol 2015 Apr;45(4):562-9. Epub 2014 Oct 10 doi: 10.1007/s00247-014-3191-x. PMID: 25301383
Lymphatic malformation: risk of progression during childhood and adolescence.
Hassanein AH, Mulliken JB, Fishman SJ, Quatrano NA, Zurakowski D, Greene AK
J Craniofac Surg 2012 Jan;23(1):149-52. doi: 10.1097/SCS.0b013e3182413ea8. PMID: 22337394

Clinical prediction guides

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
Intermittent Administration Regimen of Sirolimus for Refractory Cervicofacial Lymphatic Malformation.
Gao Q, Chen H, Sun B, Cui J, Shen W
J Craniofac Surg 2022 May 1;33(3):850-854. Epub 2021 Sep 17 doi: 10.1097/SCS.0000000000008063. PMID: 34538791
Clinicoradiologic predictors of sclerotherapy response in low-flow vascular malformations.
Bagga B, Goyal A, Das A, Bhalla AS, Kandasamy D, Singhal M, Kairo A
J Vasc Surg Venous Lymphat Disord 2021 Jan;9(1):209-219.e2. Epub 2020 Jul 9 doi: 10.1016/j.jvsv.2020.03.011. PMID: 32653406
Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.
Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D
Chest 2020 Aug;158(2):681-691. Epub 2020 Mar 24 doi: 10.1016/j.chest.2020.02.058. PMID: 32220591
Lymphatic malformation: risk of progression during childhood and adolescence.
Hassanein AH, Mulliken JB, Fishman SJ, Quatrano NA, Zurakowski D, Greene AK
J Craniofac Surg 2012 Jan;23(1):149-52. doi: 10.1097/SCS.0b013e3182413ea8. PMID: 22337394

Recent systematic reviews

Brain microstructural abnormalities in 22q11.2 deletion syndrome: A systematic review of diffusion tensor imaging studies.
Momtazmanesh S, Aarabi MH, Sanjari Moghaddam H, Delavari F, Shafie M, Abbasi-Feijani F, Cattarinussi G, Sambataro F
Eur Neuropsychopharmacol 2021 Nov;52:96-135. Epub 2021 Aug 4 doi: 10.1016/j.euroneuro.2021.07.004. PMID: 34358796

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...