Clinical presentations of Ehlers Danlos syndrome type IV.

Abstract

Ehlers Danlos syndrome type IV is an often lethal disease caused by various mutations of type III collagen genes. It presents in infancy and childhood in several ways, and the symptoms and signs include low birth weight, prematurity, congenital dislocation of the hips, easy inappropriate bruising (sometimes suspected as child battering), and a diagnostic facial phenotype. These features predict a lethal adult disease often complicated by fatal arterial rupture in early or middle adult life. Most affected patients can be diagnosed from radiolabelled collagen protein profiles by polyacrylamide gel electrophoresis. Prenatal diagnosis by specific type III collagen restriction fragment length polymorphisms is possible in some families, and will become increasingly important. Prenatal diagnosis and prevention of the disease in selected families is already possible and will be widely available in the future.

Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

“…Patients with EDS have been reported to suffer from rectal prolapse from early childhood to the sixth decade [37,16]. Surgical treatment of rectal prolapse has been reported to be associated with risk of complications, which is why some authors recommend careful consideration in planning the surgical treatment [38,18]. Because of the risk of chronic constipation [35], it is suggested that patients with EDS maintain a regular laxative regime in order to try to avoid rectal prolapse [18].…”

“…Rectum Data regarding rectal diseases in patients with EDS are based on a single clinical study [16] and on case report data [37,38]. Patients with EDS have been reported to suffer from rectal prolapse from early childhood to the sixth decade [37,16].…”

Ehlers-Danlos Syndrome Type IV Associated with Arterial and Bowel Perforation

“…3 The hallmarks of the disease, however, are severe surgical complications, some of which are frequently fatal, and account for the reduced life expectancy of these patients, resulting in a mean age at death of 35 to 40 years. 7,8 These are spontaneous ruptures of aneurysms, arteriovenous fistulas or large-size arteries 14 (as occurred in our patient). Splenic rupture has also been reported.…”

“…Joint dislocations and severe bruising with thin skin and capillary prominence or telangiectasia are common. 8 They include typical facial features (i.e., a thin, pinched nose and large eyes with a startling and prominent appearance, because of paucity of adipose tissue) and acrogeria (defining hands with fine fingers and covered by thin and wrinkled skin, which looks prematurely aged). 7 The association of both club foot and spontaneous penumothorax with this syndrome has also been noted.…”

Endovascular Treatment of Spontaneous Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV

“…However, phenotypic features of EDS IV may not always be particularly evident. A typical facial appear ance, with thin nose and lips, large and expressive eyes, lobeless ears [4][5][6] and a prematurely aged appearance (acrogeric form of EDS IV), is a feature of some patients, although others may not show skin involvement or such facial features. We describe a sporadic case of EDS IV occurring in a woman who presented with a spontaneous carotid-caver nous fistula (CCF) that was successfully treated endovascularlv, with long-term relief.…”