Opinion statement
Ehlers-Danlos syndrome type IV is one of the most prominent heritable disorders of connective tissues associated with neurovascular disease. It is an uncommon disorder characterized by thin translucent skin, distinctive facial features, excessive bruising, and rupture of blood vessels or viscera. The typical neurovascular complications of this syndrome are carotid cavernous fistulas, intracranial aneurysms, and cervical artery dissections. Because of the inordinate fragility of the blood vessels in patients with this syndrome, conservative treatment is always indicated. However, in select cases in which the person or family history indicates a more benign form of the disease, treatment that includes surgical or endovascular treatment of asymptomatic lesions may be indicated.
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References and Recommended Reading
van Meek’ren J: Heel-en Geneeskonstige Aanmerkkingen. Amsterdam, Netherlands: C. Commelijn; 1668:170–172.
Barabas AP: Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defects. BMJ 1967, 2:612–613.
Pepin M, Schwarze U, Superti-Furga A, et al.: Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000, 42:673–680. The most comprehensive study of patients with EDS IV.
Pope FM, Nicholls AC, Narcisi P, et al.: Type III collagen mutations in Ehlers-Danlos syndrome type IV and other related disorders. Clin Exp Dermatol 1988, 13:285–302.
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 type IV. Am J Hum Genet 2001, 69:989–1001. The first report of null mutations in EDS IV.
Graf CJ: Spontaneous carotid-cavernous fistula: Ehlers-Danlos syndrome and related disorders. Arch Neurol 1965, 13:662–672.
Compston DAS, Mitchell R, Hope DT, et al.: Type III collagen mutations cause fragile cerebral arteries. Br J Neurosurg 1991, 5:551–571.
North KN, Whiteman DA, Pepin MG, Byers PH: Cerebrovascular complications Ehlers-Danlos syndrome type IV. Ann Neurol 1995, 38:960–964.
Schievink WI, Piepgras DG, Earnest F 4th, Gordon H: Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome type IV. Case report. J Neurosurg 1991, 74:991–998.
Chuman H, Trobe JD, Petty EM, et al.: Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol 2002, 22:75–81.
Halbach VV, Higashida RT, Dowd CF, et al.: Treatment of carotid-cavernous fistulas associated with Ehlers-Danlos syndrome. Neurosurgery 1990, 26:1021–1027.
Schievink WI: Spontaneous extracranial carotid and vertebral artery dissections. N Engl J Med 2001, 344:898–906.
Schievink WI, Limburg M, Oorthuys JW, et al.: Cerebrovascular disease in Ehlers-Danlos syndrome type IV. Stroke 1990, 21:626–632.
Wiebers DO, Whisnant JP, Huston J 3rd, et al.: Unruptured intracranial aneurysms: natural history, clinical outcome, and risks of surgical and endovascular treatment. Lancet 2003, 362:90–91. The final report of the International Study of Unruptured Intracranial Aneurysms.
Schievink WI, Link MJ, Piepgras DG, Spetzler RF: Intracranial aneurysm surgery in Ehlers-Danlos syndrome type IV. Neurosurgery 2002, 51:607–611; discussion 611–613.
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Schievink, W.I. Cerebrovascular involvement in Ehlers-Danlos syndrome. Curr Treat Options Cardiovasc Med 6, 231–236 (2004). https://doi.org/10.1007/s11936-996-0018-6
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DOI: https://doi.org/10.1007/s11936-996-0018-6