Advertisement

Low-Flow Vascular Malformations

  • Jovan N. MarkovicEmail author
  • Cynthia K. Shortell
Chapter

Abstract

Congenital vascular malformations (CVM) are a group of unique vascular disorders that can be defined as “diffuse or localized embryologically developed errors of vascular morphogenesis leading to true structural anomalies”. The presence of CVM in the general population is estimated to be around 1.5 %, with no known sex predilection. Venous malformations are the most common type of CVM, and they comprise approximately two-thirds of all CVMs. The diagnosis and treatment of CVM can be complex and challenging. Patients with CVM can easily be misdiagnosed and also mismanaged. Consequently, many patients have been discouraged by the lack of correct diagnosis and proper treatment despite numerous visits to different clinics (from primary care physicians to subspecialists). Moreover, patients with CVM have frequently been left untreated, due to the mistaken presumption that these types of lesions can spontaneously regress, while others were considered too high risk to treat. This chapter discusses CVM: classification, multidisciplinary approach diagnosis, and management.

Keywords

Vascular Malformation Venous Malformation Infantile Hemangioma Lymphatic Malformation Sodium Tetradecyl Sulfate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Mulliken JB, Glowacki J. Hemangiomas and vascular malformations in infants and children. A classification based on endothelial characteristics. Plast Reconstr Surg. 1982;69:412–22.PubMedCrossRefGoogle Scholar
  2. 2.
    Eifert S, Villavicencio JL, Kao TC, Taute BM, Rich NM. Prevalence of deep venous anomalies in congenital vascular malformations of venous predominance. J Vasc Surg. 2000;31:462–71.PubMedCrossRefGoogle Scholar
  3. 3.
    Young AE. Pathogenesis of vascular malformations. In: Mulliken JB, Young AE, editors. Vascular birthmarks: hemangiomas and malformations. Philadelphia: W.B. Saunders Co; 1988. p. 107–13.Google Scholar
  4. 4.
    Villavicencio JL, Scultetus A, Lee BB. Congenital vascular malformations: when and how to treat them. Semin Vasc Surg. 2002;15(1):65–71.PubMedCrossRefGoogle Scholar
  5. 5.
    Tasnadi G. Epidemiology and etiology of congenital vascular malformations. Semin Vasc Surg. 1993;6:200–3.PubMedGoogle Scholar
  6. 6.
    Boon LM, Mulliken JB, Enjolras O, Vikkula M. Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol. 2004;140(8):971–6.PubMedGoogle Scholar
  7. 7.
    Blei F, Walter J, Orlow SJ, Marchuk DA. Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait. Arch Dermatol. 1998;134:718–22.PubMedGoogle Scholar
  8. 8.
    Gallione CJ, et al. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet. 1995;32(3):197–9.PubMedCrossRefGoogle Scholar
  9. 9.
    Boon LM, Mulliken JB, Vikkula M, et al. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet. 1994;3:1583–7.PubMedCrossRefGoogle Scholar
  10. 10.
    Calvert JT, et al. Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet. 1999;8(7):1279–89.PubMedCrossRefGoogle Scholar
  11. 11.
    Irrthum A, Brouillard P, Boon LM, Warman ML, Olsen BR, Mulliken JB, Enjolras O, Vikkula M. Linkage disequilibrium narrows locus for venous malformations with glomus cells (VMGLOM) to a single 1.48-Mbp YAC. Eur J Hum Genet. 2001;9:34–8.PubMedCrossRefGoogle Scholar
  12. 12.
    Cohen Jr MM. Vasculogenesis, angiogenesis, hemangiomas, and vascular malformations. Am J Med Genet. 2002;108(4):265–74.PubMedCrossRefGoogle Scholar
  13. 13.
    Brouillard P, Olsen BR, Vikkula M. High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22. Genomics. 2000;67(1):96–101.PubMedCrossRefGoogle Scholar
  14. 14.
    Diehl S, et al. Altered expression patterns of EphrinB2 and EphB2 in human umbilical vessels and congenital venous malformations. Pediatr Res. 2005;57(4):537–44.PubMedCrossRefGoogle Scholar
  15. 15.
    Degni M, Gerson L, Ishikava K, et al. Classification of the vascular diseases of the limbs. J Cardiovasc Surg. 1973;14:109–16.Google Scholar
  16. 16.
    Belov S. Anatomopathological classification of congenital vascular defects. Semin Vasc Surg. 1993;6:219–24.PubMedGoogle Scholar
  17. 17.
    Puig S, Aref H, Chigot V, Bonin B, Brunelle F. Classification of venous malformations in children and implications for sclerotherapy. Pediatr Radiol. 2003;33:99–103.PubMedGoogle Scholar
  18. 18.
    Marler JJ, Mulliken JB. Vascular anomalies: classification, diagnosis, and natural history. Facial Plast Surg Clin North Am. 2001;9(4):495–504.PubMedGoogle Scholar
  19. 19.
    Bartels C, Horsch S. Classification of congenital arterial and venous vascular malformations. Angiology. 1995;46(3):191–200.PubMedCrossRefGoogle Scholar
  20. 20.
    Virchow R, editor. Die krankhaftenGeschwu¨ lste. Berlin: A. Hirschwald; 1863. p. 456–61.Google Scholar
  21. 21.
    Enjolras O, Mulliken JB. Vascular tumors and vascular malformations, new issues. Adv Dermatol. 1997;13:375–423.PubMedGoogle Scholar
  22. 22.
    Chiller KG, Frieden IJ, Arbiser JL. Molecular pathogenesis of vascular anomalies: classification into three categories based upon clinical and biochemical characteristics. Lymphat Res Biol. 2003;1(4):267–81.PubMedCrossRefGoogle Scholar
  23. 23.
    Belov S. Classification of congenital vascular defects. Int Angiol. 1990;9(3):141–6.PubMedGoogle Scholar
  24. 24.
    Lee BB. Critical issues in management of congenital vascular malformation. Ann Vasc Surg. 2004;18(3):380–92.PubMedCrossRefGoogle Scholar
  25. 25.
    Vikkula M, Boon LM, Mulliken JB, Olsen BR. Molecular basis of vascular anomalies. Trends Cardiovasc Med. 1998;8:281.PubMedCrossRefGoogle Scholar
  26. 26.
    Lawley LP, Cerimele F, Weiss SW, North P, Cohen C, Kozakewich HPW, Mulliken JB, Arbiser JL. Expression of wilms tumor 1 gene distinguishes vascular malformations from proliferative endothelial lesions. Arch Dermatol. 2005;141:1297–300.PubMedGoogle Scholar
  27. 27.
    Morris PN, et al. Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations. J Mol Med. 2005;83(1):58–63.PubMedCrossRefGoogle Scholar
  28. 28.
    Wouters V, Limaye N, Uebelhoer M, et al. Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. Eur J Hum Genet. 2010;18:414–20.PubMedCrossRefGoogle Scholar
  29. 29.
    Puig S, Casati B, Staudenherz A, Paya K. Vascular low-flow malformations in children: current concepts for classification, diagnosis and therapy. Eur J Radiol. 2005;53:35–45.PubMedCrossRefGoogle Scholar
  30. 30.
    Mulliken JB, Fishman SJ, Burrows PE. Vascular anomalies. Curr Probl Surg. 2000;37:517.PubMedCrossRefGoogle Scholar
  31. 31.
    Frieden IJ, Garzon M, Enjolras O. Vascular tumors and vascular malformations: does overlap occur? In: Program and abstracts of the 12th International Workshop on Vascular Anomalies, Berlin; June 27–28, 1998.Google Scholar
  32. 32.
    Enjolras O, Wassef M, Chapot R. A color atlas of vascular tumors and vascular malformations. New York: Cambridge University Press; 2007.CrossRefGoogle Scholar
  33. 33.
    Boon LM, Enjolras O, Mulliken JB. Congenital hemangioma: evidence of accelerated involution. J Pediatr. 1996;128:329–35.PubMedCrossRefGoogle Scholar
  34. 34.
    Cordoro KM, Speetzen LS, Koerper MA, et al. Physiologic changes in vascular birthmarks during early infancy: mechanisms and clinical implications. J Am Acad Dermatol. 2009;60(4):669–75.PubMedCrossRefGoogle Scholar
  35. 35.
    Boyvat A, et al. Lumbosacral vascular malformation: a hallmark for occult spinal dysraphism. Dermatology. 2000;201(4):374–6.PubMedCrossRefGoogle Scholar
  36. 36.
    Guggisberg D, Hadj-Rabia S, Vinet C, et al. Skin markers of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol. 2004;140(9):1109–15.PubMedGoogle Scholar
  37. 37.
    Legiehn GM, Heran MK. Venous malformations: classification, development, diagnosis, and interventional radiologic management. Radiol Clin North Am. 2008;46:545–97.PubMedCrossRefGoogle Scholar
  38. 38.
    Hein KD, et al. Venous malformations of skeletal muscle. Plast Reconstr Surg. 2002;110(7):1625–35.PubMedCrossRefGoogle Scholar
  39. 39.
    Gloviczki P, et al. Klippel-Trenaunay syndrome: the risks and benefits of vascular interventions. Surgery. 1991;110(3):469–79.PubMedGoogle Scholar
  40. 40.
    Lee A, et al. Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. Pediatrics. 2005;115(3):744–9.PubMedCrossRefGoogle Scholar
  41. 41.
    Nahm WK, et al. Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation. J Am Acad Dermatol. 2004;50(5 Suppl):S101–6.PubMedCrossRefGoogle Scholar
  42. 42.
    Andersen JM. Blue rubber bleb nevus syndrome. Curr Treat Options Gastroenterol. 2001;4(5):433–40.PubMedCrossRefGoogle Scholar
  43. 43.
    Rossler L, Lamesch A. The blue rubber bleb nevus or the cellular blue nevus or Bean syndrome. A rare case of iron-deficiency anemia. Phlebologie. 1992;45(4):471–5.PubMedGoogle Scholar
  44. 44.
    Lee BB, et al. Congenital vascular malformations: general diagnostic principles. Phlebology. 2007;22(6):253–7.PubMedCrossRefGoogle Scholar
  45. 45.
    Dubois J, Garel L, Grignon A, et al. Imaging of hemangiomas and vascular malformations in children. Acad Radiol. 1998;5(5):390–400.PubMedCrossRefGoogle Scholar
  46. 46.
    Paltiel HJ, Burrows PE, Kozakewich HP, Zurakowski D, Mulliken JB. Soft-tissue vascular anomalies: utility of US for diagnosis. Radiology. 2000;214(3):747–54.PubMedCrossRefGoogle Scholar
  47. 47.
    Dubois J, et al. Soft-tissue venous malformations in adult patients: imaging and therapeutic issues. Radiographics. 2001;21(6):1519–31.PubMedCrossRefGoogle Scholar
  48. 48.
    Trop I, et al. Soft-tissue venous malformations in pediatric and young adult patients: diagnosis with Doppler US. Radiology. 1999;212(3):841–5.PubMedCrossRefGoogle Scholar
  49. 49.
    Burrows PE, Laor T, Paltiel H, Robertson RL. Diagnostic imaging in the evaluation of vascular birthmarks. Dermatol Clin. 1998;16(3):455–88.PubMedCrossRefGoogle Scholar
  50. 50.
    Wilms G, et al. MRI of non-ischemic vascular disease: aneurysms and vascular malformations. Eur Radiol. 1999;9(6):1055–60.PubMedCrossRefGoogle Scholar
  51. 51.
    Herborn CU, et al. Comprehensive time-resolved MRI of peripheral vascular malformations. AJR Am J Roentgenol. 2003;181(3):729–35.PubMedCrossRefGoogle Scholar
  52. 52.
    Dubois J, Garel L. Imaging and therapeutic approach of hemangiomas and vascular malformations in the pediatric age group. Pediatr Radiol. 1999;29(12):879–93.PubMedCrossRefGoogle Scholar
  53. 53.
    Browse NL, Burnand KG, Lea TM. The Klippel-Trenaunay syndrome. In: Browse NL, Burnand KG, Thomas ML, editors. Diseases of the veins: pathology, diagnosis and treatment. London: Edward Arnold; 1988. p. 609–25.Google Scholar
  54. 54.
    Enjolras O, Ciabrini D, Mazoyer E, Laurian C, Herbreteau D. Extensive pure venous malformations in the upper or lower limb: a review of 27 cases. J Am Acad Dermatol. 1997;36(2, pt 1):219–25.PubMedCrossRefGoogle Scholar
  55. 55.
    Mazoyer E, Enjolras O, Laurian C, Houdart E, Drouet L. Coagulation abnormalities associated with extensive venous malformations of the limbs: differentiation from Kasabach-Merritt syndrome. Clin Lab Haematol. 2002;24(4):243–51.PubMedCrossRefGoogle Scholar
  56. 56.
    Mazoyer E, et al. Coagulation disorders in patients with venous malformation of the limbs and trunk: a case series of 118 patients. Arch Dermatol. 2008;144(7):861–7.PubMedGoogle Scholar
  57. 57.
    Enjolras O, Mulliken JB, Wassef M, et al. Residual lesions after Kasabach-Merritt phenomenon in 41 patients. J Am Acad Dermatol. 2000;42(2, pt 1):225–35.PubMedCrossRefGoogle Scholar
  58. 58.
    Dompmartin A, et al. Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol. 2008;144(7):873–7.PubMedGoogle Scholar
  59. 59.
    Hermans C, et al. Venous malformations and coagulopathy. Ann Chir Plast Esthet. 2006;51(4–5):388–93.PubMedCrossRefGoogle Scholar
  60. 60.
    Mazereeuw-Hautier J, et al. Extensive venous/lymphatic malformations causing life-threatening haematological complications. Br J Dermatol. 2007;157(3):558–63.PubMedCrossRefGoogle Scholar
  61. 61.
    Lee BB, Bergan JJ. Advanced management of congenital vascular malformations: a multidisciplinary approach. Cardiovasc Surg. 2002;10(6):523–33.PubMedCrossRefGoogle Scholar
  62. 62.
    Donnelly LF, Adams DM, Bisset 3rd GS. Vascular malformations and hemangiomas: a practical approach in a multidisciplinary clinic. AJR Am J Roentgenol. 2000;174(3):597–608.PubMedCrossRefGoogle Scholar
  63. 63.
    Nagy M, Brodsky L. Multidisciplinary approach to management of hemangiomas and vascular malformations. Facial Plast Surg Clin North Am. 2001;9(4):551–9.PubMedGoogle Scholar
  64. 64.
    Redondo P. The hidden face of venous malformations: a multidisciplinary therapeutic approach. Arch Dermatol. 2008;144(7):922–6.PubMedGoogle Scholar
  65. 65.
    Lee BB. What is new in venous disease: new approach to old problem of venous disease: congenital vascular malformation. In: Angelides NS, editor. Advances in phlebology. Limassol: Hadjigeogiou Printing & Co; 1998. p. 59–64.Google Scholar
  66. 66.
    Erin FDM, et al. Clinical characteristics and management of vascular anomalies: findings of a multidisciplinary vascular anomalies clinic. Arch Dermatol. 2004;140(8):979–83.Google Scholar
  67. 67.
    Reyes BA, Geronemus R. Treatment of port-wine stains during childhood with the flashlamp-pumped pulsed dye laser. J Am Acad Dermatol. 1990;23(6 Pt 1):1142–8.PubMedCrossRefGoogle Scholar
  68. 68.
    Renfro L, Geronemus RG. Anatomical differences of port-wine stains in response to treatment with the pulsed dye laser. Arch Dermatol. 1993;129(2):182–8.PubMedCrossRefGoogle Scholar
  69. 69.
    Mathur NN, Rana I, Bothra R, Dhawan R, Kathuria G, Pradhan T. Bleomycin sclerotherapy in congenital lymphatic and vascular malformations of head and neck. Int J Pediatr Otorhinolaryngol. 2005;69:75–80.PubMedCrossRefGoogle Scholar
  70. 70.
    Svendsen P, Wikholm G, Fogdestam I, Naredi S, Edén E. Instillation of alcohol into venous malformations of the head and neck. Scand J Reconstr Hand Surg. 1994;28:279–84.CrossRefGoogle Scholar
  71. 71.
    Yakes WF, Luethke JM, Parker SH, Stavros AT, Rak KM, Hopper KD, et al. Ethanol embolization of vascular malformations. Radiographics. 1990;10:787–96.PubMedCrossRefGoogle Scholar
  72. 72.
    Mason KP, Michna E, Zurakowski D, Koka BV, Burrows PE. Serum ethanol levels in children and adults after ethanol embolization or sclerotherapy for vascular anomalies. Radiology. 2000;217:127–32.PubMedCrossRefGoogle Scholar
  73. 73.
    Lee BB, Kim DI, et al. New experiences with absolute ethanol sclerotherapy in the management of a complex form of congenital venous malformation. J Vasc Surg. 2001;33(4):764–72.PubMedCrossRefGoogle Scholar
  74. 74.
    Yakes WF, Baker R. Cardiopulmonary collapse: sequelae of alcohol embolotherapy. Radiology. 1993;189:145.Google Scholar
  75. 75.
    Yakes WF, et al. Symptomatic vascular malformations: ethanol embolotherapy. Radiology. 1989;170(3 Pt 2):1059–66.PubMedGoogle Scholar
  76. 76.
    Burrows PE, Mason KP. Percutaneous treatment of low flow vascular malformations. J Vasc Interv Radiol. 2004;15(5):431–45.PubMedCrossRefGoogle Scholar
  77. 77.
    Yamaki T, et al. Prospective randomized efficacy of ultrasound-guided foam sclerotherapy compared with ultrasound-guided liquid sclerotherapy in the treatment of symptomatic venous malformations. J Vasc Surg. 2008;47(3):578–84.PubMedCrossRefGoogle Scholar
  78. 78.
    Bergan J, Cheng V. Foam sclerotherapy of venous malformations. Phlebology. 2007;22(6):299–302.PubMedCrossRefGoogle Scholar
  79. 79.
    Yamaki T, Nozaki M, Iwasaka S. Comparative study of duplex-guided foam sclerotherapy and duplex-guided liquid sclerotherapy for the treatment of superficial venous insufficiency. Dermatol Surg. 2004;30(5):718–22. discussion 722.PubMedCrossRefGoogle Scholar
  80. 80.
    Orbach EJ. Sclerotherapy of varicose veins—utilization of an intravenous air block. Am J Surg. 1944;66:362–6.CrossRefGoogle Scholar
  81. 81.
    Eckmann DM, Kobayashi S, Li M. Microvascular embolization following polidocanol microfoam sclerosant administration. Dermatol Surg. 2005;31:636–43.PubMedCrossRefGoogle Scholar
  82. 82.
    Frullini A. New technique in producing sclerosing foam in a disposable syringe. Dermatol Surg. 2000;26:705–6.PubMedCrossRefGoogle Scholar
  83. 83.
    Rao J, Goldman MP. Stability of foam in sclerotherapy: differences between sodium tetradecyl sulfate and polidocanol and the type of connector used in the double-syringe system technique. Dermatol Surg. 2005;31(1):19–22.PubMedCrossRefGoogle Scholar
  84. 84.
    Tessari L, Cavezzi A, Frullini A. Preliminary experience with a new sclerosing foam in the treatment of varicose veins. Dermatol Surg. 2001;27:58–60.PubMedCrossRefGoogle Scholar
  85. 85.
    Reiner L. The activity of anionic surface active compounds in producing vascular obliteration. Proc Soc Exp Biol Med. 1946;62:49.PubMedCrossRefGoogle Scholar
  86. 86.
    Lucchi M, Bilancini S, Tucci S. Sclerosis with foam of the great saphenous vein—short term results. Phlebologie. 2003;4:389–94.Google Scholar
  87. 87.
    Rao J, Wildemore JK, Goldman MP. Double-blind prospective comparative trial between foamed and liquid polidocanol and sodium tetradecyl sulfate in the treatment of varicose and telangiectatic leg veins. Dermatol Surg. 2005;31(6):631–5. discussion 635.PubMedCrossRefGoogle Scholar
  88. 88.
    Stirling M, Shortell CK. Endovascular treatment of varicose veins. Semin Vasc Surg. 2006;19(2):109–15.PubMedCrossRefGoogle Scholar
  89. 89.
    Bergan J, Cheng V. Foam sclerotherapy for the treatment of varicose veins. Vascular. 2007;15(5):269–72.PubMedCrossRefGoogle Scholar
  90. 90.
    Barrett J, Allen B, Ockelford A, Goldman MP. Microfoam ultrasound- guided sclerotherapy for varicose veins in a subgroup with diameter at the junction of > 10 mm compared with a subgroup < 10 mm. Dermatol Surg. 2004;30:1386–90.PubMedCrossRefGoogle Scholar
  91. 91.
    Goldman MP. Treatment of varicose and telangiectatic leg veins. Double-blind prospective comparative trial between aethoxyskerol and sotradecol. Dermatol Surg. 2002;28:52–5.PubMedCrossRefGoogle Scholar
  92. 92.
    Ceulen RP, Sommer A, Vernooy K. Microembolism during foam sclerotherapy of varicose veins. N Engl J Med. 2008;358(14):1525–6.PubMedCrossRefGoogle Scholar
  93. 93.
    Cabrera J, Cabrera J, Garcia-Olmedo MA, Redondo P. Treatment of venous malformations with sclerosant in microfoam form. Arch Dermatol. 2003;139:1494–6.Google Scholar
  94. 94.
    Pascarella L, Bergan JJ, Yamada C, Mekenas L. Venous angiomata: treatment with sclerosant foam. Ann Vasc Surg. 2005;19:457–64.PubMedCrossRefGoogle Scholar
  95. 95.
    Markovic JN, Shortell CK. Initial experience in the treatment of low flow vascular malformations with sodium tetradecyl sulfate foam sclerotherapy. Presented at the 62nd Vascular Annual Meeting of the Society for Vascular Surgery. San Diego; June 2008.Google Scholar

Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  1. 1.Department of SurgeryDuke University Medical CenterDurhamUSA
  2. 2.Department of Vascular SurgeryDuke University Medical CenterDurhamUSA

Personalised recommendations