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Hepatic vascular malformations

MedGen UID:
350099
Concept ID:
C1861790
Finding
Synonym: Liver vascular malformations
 
HPO: HP:0006576

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHepatic vascular malformations

Conditions with this feature

Cerebral cavernous malformation
MedGen UID:
418825
Concept ID:
C2919945
Congenital Abnormality
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.

Professional guidelines

PubMed

Olsen LB, Kjeldsen AD, Poulsen MK, Kjeldsen J, Fialla AD
Orphanet J Rare Dis 2020 Nov 26;15(1):334. doi: 10.1186/s13023-020-01583-6. PMID: 33243256Free PMC Article
Martín-Llahí M, Albillos A, Bañares R, Berzigotti A, García-Criado MÁ, Genescà J, Hernández-Gea V, Llop-Herrera E, Masnou-Ridaura H, Mateo J, Navascués CA, Puente Á, Romero-Gutiérrez M, Simón-Talero M, Téllez L, Turon F, Villanueva C, Zarrabeitia R, García-Pagán JC
Gastroenterol Hepatol 2017 Oct;40(8):538-580. Epub 2017 Jun 11 doi: 10.1016/j.gastrohep.2017.03.011. PMID: 28610817
Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R
Am J Med Genet A 2006 Mar 1;140(5):463-70. doi: 10.1002/ajmg.a.31101. PMID: 16470787

Recent clinical studies

Etiology

De Gottardi A, Berzigotti A, Buscarini E, García Criado A
Ultraschall Med 2018 Aug;39(4):382-405. Epub 2018 Aug 2 doi: 10.1055/a-0647-1658. PMID: 30071557
Ginon I, Decullier E, Finet G, Cordier JF, Marion D, Saurin JC, Dupuis-Girod S
Eur J Intern Med 2013 Apr;24(3):e35-9. Epub 2013 Jan 9 doi: 10.1016/j.ejim.2012.12.013. PMID: 23312966
Dupuis-Girod S, Ginon I, Saurin JC, Marion D, Guillot E, Decullier E, Roux A, Carette MF, Gilbert-Dussardier B, Hatron PY, Lacombe P, Lorcerie B, Rivière S, Corre R, Giraud S, Bailly S, Paintaud G, Ternant D, Valette PJ, Plauchu H, Faure F
JAMA 2012 Mar 7;307(9):948-55. doi: 10.1001/jama.2012.250. PMID: 22396517
Buscarini E, Leandro G, Conte D, Danesino C, Daina E, Manfredi G, Lupinacci G, Brambilla G, Menozzi F, De Grazia F, Gazzaniga P, Inama G, Bonardi R, Blotta P, Forner P, Olivieri C, Perna A, Grosso M, Pongiglione G, Boccardi E, Pagella F, Rossi G, Zambelli A
Dig Dis Sci 2011 Jul;56(7):2166-78. Epub 2011 Feb 3 doi: 10.1007/s10620-011-1585-2. PMID: 21290179Free PMC Article
Goffette PP, Laterre PF
Eur Radiol 2002 May;12(5):994-1021. Epub 2002 Mar 23 doi: 10.1007/s00330-002-1396-0. PMID: 11976843

Diagnosis

De Gottardi A, Berzigotti A, Buscarini E, García Criado A
Ultraschall Med 2018 Aug;39(4):382-405. Epub 2018 Aug 2 doi: 10.1055/a-0647-1658. PMID: 30071557
Geisthoff UW, Nguyen HL, Röth A, Seyfert U
Br J Haematol 2015 Nov;171(4):443-52. Epub 2015 Jul 23 doi: 10.1111/bjh.13606. PMID: 26205234
Khalid SK, Garcia-Tsao G
Semin Liver Dis 2008 Aug;28(3):247-58. Epub 2008 Sep 23 doi: 10.1055/s-0028-1085093. PMID: 18814078
Garcia-Tsao G
J Hepatol 2007 Mar;46(3):499-507. Epub 2007 Jan 2 doi: 10.1016/j.jhep.2006.12.008. PMID: 17239481
Buscarini E, Danesino C, Olivieri C, Lupinacci G, Zambelli A
Dig Liver Dis 2005 Sep;37(9):635-45. doi: 10.1016/j.dld.2005.04.010. PMID: 15923156

Therapy

Serra MM, Besada CH, Cabana Cal A, Saenz A, Stefani CV, Bauso D, Golimstok AB, Bandi JC, Giunta DH, Elizondo CM
Orphanet J Rare Dis 2017 May 18;12(1):92. doi: 10.1186/s13023-017-0632-2. PMID: 28521822Free PMC Article
Geisthoff UW, Nguyen HL, Röth A, Seyfert U
Br J Haematol 2015 Nov;171(4):443-52. Epub 2015 Jul 23 doi: 10.1111/bjh.13606. PMID: 26205234
Dupuis-Girod S, Ginon I, Saurin JC, Marion D, Guillot E, Decullier E, Roux A, Carette MF, Gilbert-Dussardier B, Hatron PY, Lacombe P, Lorcerie B, Rivière S, Corre R, Giraud S, Bailly S, Paintaud G, Ternant D, Valette PJ, Plauchu H, Faure F
JAMA 2012 Mar 7;307(9):948-55. doi: 10.1001/jama.2012.250. PMID: 22396517
Chavan A, Caselitz M, Gratz KF, Lotz J, Kirchhoff T, Piso P, Wagner S, Manns M, Galanski M
Eur Radiol 2004 Nov;14(11):2079-85. Epub 2004 Aug 17 doi: 10.1007/s00330-004-2455-5. PMID: 15316741
Chavan A, Galanski M, Wagner S, Caselitz M, Schlitt HJ, Gratz KF, Manns M
Radiology 1998 Dec;209(3):735-9. doi: 10.1148/radiology.209.3.9844667. PMID: 9844667

Prognosis

Alagappan A, Sahoo B, Prakash JH, Panigrahi MK, Tripathy T
Sultan Qaboos Univ Med J 2023 Nov;23(4):551-555. Epub 2023 Nov 30 doi: 10.18295/squmj.1.2023.011. PMID: 38090247Free PMC Article
Geisthoff UW, Nguyen HL, Röth A, Seyfert U
Br J Haematol 2015 Nov;171(4):443-52. Epub 2015 Jul 23 doi: 10.1111/bjh.13606. PMID: 26205234
Al-Saleh S, John PR, Letarte M, Faughnan ME, Belik J, Ratjen F
Pediatrics 2011 Jun;127(6):e1615-20. Epub 2011 May 2 doi: 10.1542/peds.2010-2366. PMID: 21536610Free PMC Article
Chavan A, Caselitz M, Gratz KF, Lotz J, Kirchhoff T, Piso P, Wagner S, Manns M, Galanski M
Eur Radiol 2004 Nov;14(11):2079-85. Epub 2004 Aug 17 doi: 10.1007/s00330-004-2455-5. PMID: 15316741
Goffette PP, Laterre PF
Eur Radiol 2002 May;12(5):994-1021. Epub 2002 Mar 23 doi: 10.1007/s00330-002-1396-0. PMID: 11976843

Clinical prediction guides

Serra MM, Besada CH, Cabana Cal A, Saenz A, Stefani CV, Bauso D, Golimstok AB, Bandi JC, Giunta DH, Elizondo CM
Orphanet J Rare Dis 2017 May 18;12(1):92. doi: 10.1186/s13023-017-0632-2. PMID: 28521822Free PMC Article
Dupuis-Girod S, Ginon I, Saurin JC, Marion D, Guillot E, Decullier E, Roux A, Carette MF, Gilbert-Dussardier B, Hatron PY, Lacombe P, Lorcerie B, Rivière S, Corre R, Giraud S, Bailly S, Paintaud G, Ternant D, Valette PJ, Plauchu H, Faure F
JAMA 2012 Mar 7;307(9):948-55. doi: 10.1001/jama.2012.250. PMID: 22396517
Dupuis-Girod S, Chesnais AL, Ginon I, Dumortier J, Saurin JC, Finet G, Decullier E, Marion D, Plauchu H, Boillot O
Liver Transpl 2010 Mar;16(3):340-7. doi: 10.1002/lt.21990. PMID: 20209594
Goffette PP, Laterre PF
Eur Radiol 2002 May;12(5):994-1021. Epub 2002 Mar 23 doi: 10.1007/s00330-002-1396-0. PMID: 11976843
Chavan A, Galanski M, Wagner S, Caselitz M, Schlitt HJ, Gratz KF, Manns M
Radiology 1998 Dec;209(3):735-9. doi: 10.1148/radiology.209.3.9844667. PMID: 9844667

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