Blood Reviews
Volume 23, Issue 5 , Pages 191-197 , September 2009

Bleeding in the heritable connective tissue disorders: Mechanisms, diagnosis and treatment

References 

  1. Birk DE. Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly. Micron. 2001;32:223–237
  2. Gibbins JM. Platelet adhesion signalling and the regulation of thrombus formation. J Cell Sci. 2004;117:3415–3425
  3. Cunniff C, Williamson-Kruse L. Ehlers–Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time. Clin Dysmorphol. 1995;4:145–149
  4. Chouza CCJ, De Medina O, Bogacz J, Oehninger C, Vignale R, De Anda G, et al. Familial spastic ataxia associated with Ehlers–Danlos syndrome with platelet dysfunction. Can J Neurol Sci. 1984;11:541–549
  5. Anstey A, Mayne K, Winter M, Van de Pette J, Pope FM. Platelet and coagulation studies in Ehlers–Danlos syndrome. Br J Dermatol. 1991;125:155–163
  6. Estes JW. Platelet size and function in the heritable disorders of connective tissue. Ann Intern Med. 1968;68:1237–1249
  7. Onel D, Ulutin SB, Ulutin ON. Platelet defect in a case of Ehlers–Danlos syndrome. Acta Haematol. 1973;50:238–244
  8. Kashiwagi H, Riddle JM, Abraham JP, Frame B. Functional and ultrastructural abnormalities of platelets in Ehlers–Danlos syndrome. Ann Intern Med. 1965;63:249–254
  9. Uden A. Collagen and bleeding diathesis in Ehlers–Danlos syndrome. Scand J Haematol. 1982;28:425–430
  10. Espanol I, Hernandez A, Pujol RM, Urrutia T, Pujol-Moix N. Type IV Ehlers–Danlos syndrome with platelet delta-storage pool disease. Ann Hematol. 1998;77:47–50
  11. Bertin P, Treves R, Julia A, Gaillard S, Desproges-Gotteron R. Ehlers–Danlos syndrome, clotting disorders and muscular dystrophy. Ann Rheum Dis. 1989;48:953–956
  12. Clough V, MacFarlane IA, O’Connor J, Wood JK. Acquired von Willebrand’s syndrome and Ehlers–Danlos syndrome presenting with gastro-intestinal bleeding. Scand J Haematol. 1979;22:305–310
  13. Gamba G, Gatti V, Longoni P, Grignani G, Rizzo SC, Cetta G. Type IV Ehlers–Danlos syndrome and factor IX deficiency: a case report. Haematologica. 1986;71:139–141
  14. Fantl P, Morris KN, Sawers RJ. Repair of cardiac defect in patient with Ehlers–Danlos syndrome and deficiency of Hageman factor. Br Med J. 1961;5234:1202–1204
  15. Grenko RT, Burns SL, Golden EA, Byers PH, Bovill EG. Type IV Ehlers–Danlos syndrome with aspirin sensitivity. A family study. Arch Pathol Lab Med. 1993;117:989–992
  16. Steinmann B, Royce P, Superti-Furga A. The Ehlers–Danlos syndrome. In:  Royce P,  Steinmann B editor. Connective tissue and its heritable disorders. 2nd ed.. New York: Wiley-Liss, Inc.; 2002;p. 431–523
  17. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers–Danlos National Foundation (USA) and Ehlers–Danlos Support Group (UK). Am J Med Genet. 1998;77:31–37
  18. Sack G. Status dysvascularis, ein Fall van besonderer Zerreislichkeit der blutgefässe. Dtsch Arch Klin Med. 1936;178:663–669
  19. Barabas AP. Heterogeneity of the Ehlers–Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s). Br Med J. 1967;2:612–613
  20. Barabas GM, Barabas AP. The Ehlers–Danlos syndrome. A report of the oral and haematological findings in nine cases. Br Dent J. 1967;123:473–479
  21. Pepin M, Superti-Furga A, Byers PH. Natural history of Ehlers–Danlos syndrome type IV: a review of 137 cases. Am J Hum Genet. 1992;51(4):[abstract A44]
  22. Clark JG, Kuhn C, Uitto J. Lung collagen in type IV Ehlers–Danlos syndrome: ultrastructural and biochemical studies. Am Rev Respir Dis. 1980;122:971–978
  23. Pope FM, Nicholls AC. Pregnancy and Ehlers–Danlos syndrome type IV. Lancet. 1983;1:249–250
  24. Rudd NL, Nimrod C, Holbrook KA, Byers PH. Pregnancy complications in type IV Ehlers–Danlos syndrome. Lancet. 1983;1:50–53
  25. Peaceman AM, Cruikshank DP. Ehlers–Danlos syndrome and pregnancy: association of type IV disease with maternal death. Obstet Gynecol. 1987;69:428–431
  26. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342:673–680
  27. North KN, Whiteman DA, Pepin MG, Byers PH. Cerebrovascular complications in Ehlers–Danlos syndrome type IV. Ann Neurol. 1995;38:960–964
  28. Dalgleish R. The human collagen mutation database 1998. Nucleic Acids Res. 1998;26:253–255
  29. Schwarze U, Schievink WI, Petty E, et al. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers–Danlos syndrome, Ehlers–Danlos syndrome type IV. Am J Hum Genet. 2001;69:989–1001
  30. Palmeri S, Mari F, Meloni I, et al. Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism. Clin Genet. 2003;63:510–515
  31. Milewicz DM, Witz AM, Smith AC, Manchester DK, Waldstein G, Byers PH. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers–Danlos syndrome type IV in the heterozygous offspring. Am J Hum Genet. 1993;53:62–70
  32. Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers–Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. Am J Hum Genet. 1992;51:497–507
  33. Richards AJ, Ward PN, Narcisi P, Nicholls AC, Lloyd JC, Pope FM. A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers–Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. Hum Genet. 1992;89:414–418
  34. Nusgens BV, Verellen-Dumoulin C, Hermanns-Le T, et al. Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis. Nat Genet. 1992;1:214–217
  35. Petty EM, Seashore MR, Braverman IM, Spiesel SZ, Smith LT, Milstone LM. Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Arch Dermatol. 1993;129:1310–1315
  36. Fujimoto A, Wilcox WR, Cohn DH. Clinical, morphological, and biochemical phenotype of a new case of Ehlers–Danlos syndrome type VIIC. Am J Med Genet. 1997;68:25–28
  37. Colige A, Sieron AL, Li SW, et al. Human Ehlers–Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet. 1999;65:308–317
  38. Colige A, Nuytinck L, Hausser I, et al. Novel types of mutation responsible for the dermatosparactic type of Ehlers–Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol. 2004;123:656–663
  39. Colige A, Li SW, Sieron AL, Nusgens BV, Prockop DJ, Lapiere CM. cDNA cloning and expression of bovine procollagen I N-proteinase: a new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components. Proc Natl Acad Sci USA. 1997;94:2374–2379
  40. Wang WM, Lee S, Steiglitz BM, et al. Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. J Biol Chem. 2003;278:19549–19557
  41. Colige A, Ruggiero F, Vandenberghe I, et al. Domains and maturation processes that regulate the activity of ADAMTS-2, a metalloproteinase cleaving the aminopropeptide of fibrillar procollagens types I-III and V. J Biol Chem. 2005;280:34397–34408
  42. Schalkwijk J, Zweers MC, Steijlen PM, et al. A recessive form of the Ehlers–Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001;345:1167–1175
  43. Egging DF, van Vlijmen-Willems I, Choi J, et al. Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. Cell Tissue Res. 2008;332:523–532
  44. Stewart RE, Hollister DW, Rimoin DL. A new variant of Ehlers–Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. Birth Defects Orig Artic Ser. 1977;13:85–93
  45. Linch DC, Acton CH. Ehlers–Danlos syndrome presenting with juvenile destructive periodontitis. Br Dent J. 1979;147:95–96
  46. Hartsfield JK, Kousseff BG. Phenotypic overlap of Ehlers–Danlos syndrome types IV and VIII. Am J Med Genet. 1990;37:465–470
  47. Rahman N, Dunstan M, Teare MD, et al. Ehlers–Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am J Hum Genet. 2003;73:198–204
  48. Colombi M, Moro L, Zoppi N, Ghinelli A, Barlati S. Altered fibronectin mRNA splicing in skin fibroblasts from Ehlers–Danlos syndrome patients: in situ hybridization analysis. Cell Biol Int Rep. 1991;15:1195–1206
  49. Barlati S, Moro L, Gardella R, Colombi M. Phenotypic correction of the defective fibronectin extracellular matrix of Ehlers–Danlos syndrome fibroblasts. Cell Biol Int Rep. 1991;15:1183–1194
  50. Cutolo M, Castellani P, Borsi L, Zardi L. Altered fibronectin distribution in cultured fibroblasts from patients with Ehlers–Danlos syndrome. Clin Exp Rheumatol. 1986;4:125–128
  51. Shirakami A, Shigekiyo T, Hirai Y, et al. Plasma fibronectin deficiency in eight members of one family. Lancet. 1986;1:473–474
  52. Malfait F, Symoens S, De Backer J, et al. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers–Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. 2007;28:387–395
  53. Mayer SA, Rubin BS, Starman BJ, Byers PH. Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. Neurology. 1996;47:552–556
  54. Robinson PN, Arteaga-Solis E, Baldock C, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006;43:769–787
  55. Pereira L, Andrikopoulos K, Tian J, et al. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet. 1997;17:218–222
  56. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33:407–411
  57. Marini JC, Forlino A, Cabral WA, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28:209–221
  58. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312:117–121
  59. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788–798
  60. Vanakker OM, Martin L, Gheduzzi D, et al. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol. 2007;127:581–587
  61. Freeman RK, Swegle J, Sise MJ. The surgical complications of Ehlers–Danlos syndrome. Am Surg. 1996;62:869–873
  62. Cikrit DF, Miles JH, Silver D. Spontaneous arterial perforation: the Ehlers–Danlos specter. J Vasc Surg. 1987;5:248–255
  63. Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan’s syndrome. N Engl J Med. 1994;330:1335–1341
  64. Stine KC, Becton DL. DDAVP therapy controls bleeding in Ehlers–Danlos syndrome. J Pediatr Hematol Oncol. 1997;19:156–158
  65. Faber P, Craig WL, Duncan JL, Holliday K. The successful use of recombinant factor VIIa in a patient with vascular-type Ehlers–Danlos syndrome. Acta Anaesthesiol Scand. 2007;51:1277–1279

PII: S0268-960X(09)00038-1

doi: 10.1016/j.blre.2009.06.001

Blood Reviews
Volume 23, Issue 5 , Pages 191-197 , September 2009

Article Tools