Abstract
The vascular type of Ehlers-Danlos syndrome (vEDS) is a rare inherited disease of the connective tissues, and is caused by abnormal type III collagen resulting from heterogeneous mutations of the type III collagen COL3A1 gene. We herein report the case of a vEDS patient who developed a sigmoid colon perforation and was given a definitive diagnosis by a genetic and biomolecular assay. The patient demonstrated clinical manifestations caused by tissue weakness such as frequent pneumothorax events and a detached retina. During the operation, we noticed easy bruising and thin skin with visible veins on the patient’s abdominal wall. Finally, a diagnosis was confirmed by the reduction of type III collagen synthesis and by the identification of a mutation in the gene for type III collagen. We conclude that it is difficult to diagnose a vEDS patient without clinical experiences and specialized genetic methods. Furthermore, all organs must be treated gently during therapy, because the tissues of vEDS patients are extremely fragile.
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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.
Watanabe A, Shimada T. The vascular type of Ehlers-Danlos syndrome. J Nippon Med Sch 2008;75:254–261.
Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, et al. Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan. Circ J 2007;71:261–265.
Yang JH, Lee ST, Kim JA, Kim SH, Jang SY, Ki CS, et al. Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV. J Korean Med Sci 2007;22:698–705.
Hata R, Kurata S, Shinkai H. Existence of malfunctioning pro a2(I) collagen genes in a patient with a pro a2(I)-chain-defective variant of Ehlers-Danlos syndrome. Eur J Biochem 1988;174:231–237.
Hatamochi A, Ono M, Ueki H, Namba M. Regulation of collagen gene expression by transformed human fibroblasts: decreased type I and type III collagen RNA transcription. J Invest Dermatol 1991;96:473–477.
Fleischmajer R, Perlish JS, Krieg T, Timple R. Variability in collagen and fibronectin synthesis by scleroderma fibroblasts in primary culture. J Invest Dermatol 1981;76:400–403.
Okita H, Ikeda Y, Mitsuhashi Y, Namikawa H, Kitamura Y, Hamasaki Y, et al. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome. Arch Dermatol Res 2009;302:395–9.
Matsushima K, Takara H. Endovascular treatment for a spontaneous rupture of the posterior tibial artery in a patient with Ehlers-Danlos syndrome type IV: report of a case. Surg Today 2009;39:523–526.
Freeman RK, Swegle J, Sise MJ. The surgical complications of Ehlers-Danlos syndrome. Am Surg 1996;62:869–873.
Privitera A, Milkhu C, Datta V, Sayegh M, Cohen R, Windsor A. Spontaneous rupture of the spleen in type IV Ehlers-Danlos syndrome: report of a case. Surg Today 2009;39(1):52–54.
Fuchs JR, Fishman SJ. Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. J Pediatr Surg 2004;39(2):e1–e3.
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Omori, H., Hatamochi, A., Koike, M. et al. Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: Report of a case. Surg Today 41, 733–736 (2011). https://doi.org/10.1007/s00595-010-4316-y
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DOI: https://doi.org/10.1007/s00595-010-4316-y