Ehlers–Danlos Syndrome Type IV (Vascular): Gastrointestinal Features

Chapter

Abstract

Ehlers–Danlos syndrome is a group of inherited connective tissue disorders caused by a defect in the synthesis of collagen. Severity of the disease depends on the mutation inherited. The disorder occurs in approximately one in 5,000 births.

Gastrointestinal (GI) signs and findings include:

Epigastric discomfort, hematemesis, melena, abdominal pain, constipation, peritoneal signs

In general, Ehlers–Danlos Syndrome is characterized by skin hyperextensibility, joint hypermobility, and wound-healing abnormalities

Type IV (vascular) Ehlers–Danlos is most often associated with GI pathology

Type IV has less skin hyperextensibility; major skin finding is very translucent skin with easily visible veins (particularly on the chest); thin faces, pinched nose, and large eyes

Keywords

Perforation Constipation Pneumothorax Diverticulitis 

References

  1. 1.
    Malfait F, Wenstrup RJ, Paepe AD. Clinical and genetic aspects of Ehlers–Danlos syndrome, classic type. Genet Med. 2010;12:597–605.PubMedCrossRefGoogle Scholar
  2. 2.
    Solomon JA, Abrams L, Lichtenstein GR. GI manifestations of Ehlers–Danlos syndrome. Am J Gastroenterol. 1996;91:2282–8.PubMedGoogle Scholar
  3. 3.
    Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Eng J Med. 2000;342:673–80.CrossRefGoogle Scholar
  4. 4.
    Bläker H, Funke B, Hausser I, et al. Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. Virchows Arch. 2007;450:713–7.PubMedCrossRefGoogle Scholar
  5. 5.
    Smith LT, Schwarze U, Goldstein J, Byers PH. Mutations in the COL3A1 gene results in Ehlers–Danlos syndrome type IV and alterations in the size and distribution of the major collage fibrils of the dermis. J Invest Dermatol. 1997;108:241–7.PubMedCrossRefGoogle Scholar
  6. 6.
    Ward SK, Roenigk HH, Gordon KB. Dermatological manifestations of gastroenterological disorders. Gastroenterol Clin North Am. 1998;27:624–5.CrossRefGoogle Scholar
  7. 7.
    Watanabe A, Shimada T. The vascular type of Ehlers–Danlos syndrome. J Nippon Med Sch. 2008;75:254–61.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Yale Department of Internal MedicineYale New Haven HospitalNew HavenUSA

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