Respiratory complications of Ehlers-Danlos syndrome type IV

Clin Genet. 1996 Dec;50(6):510-4. doi: 10.1111/j.1399-0004.1996.tb02724.x.


Pulmonary complications are described in a case of Ehlers-Danlos syndrome type IV, established by studies of collagen biosynthesis. At age 20.5 years the patient, who had previously suffered a spontaneous colonic perforation, developed intermittent recurrent hemoptysis and had a spontaneous hemopneumothorax. At presentation, imaging studies revealed multiple scattered cavitary lesions in both lungs. On separate occasions large parenchymal cysts ensued and subsequently regressed. Reviews of other reported patients indicate that pulmonary complications do occur in patients with Ehlers-Danlos syndrome type IV but have not resulted directly in patient mortality.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Collagen / genetics
  • Colonic Diseases / etiology
  • Cysts / diagnostic imaging
  • Cysts / etiology*
  • Ehlers-Danlos Syndrome / classification
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / genetics
  • Hemothorax / etiology
  • Humans
  • Intestinal Perforation / etiology
  • Lung Diseases / diagnostic imaging
  • Lung Diseases / etiology*
  • Male
  • Pneumothorax / etiology
  • Radiography


  • Collagen