Ehlers-Danlos Syndrome

Pediatric Intracranial Aneurysms: New and Enlarging Aneurysms after Index Aneurysm Treatment or Observation

“…Ehlers-Danlos syndrome type IV (the vascular type or Sack-Barabas syndrome) results from autosomal dominant mutations in the gene for type III procollagen (COL3A1) and leads to sudden transverse or longitudinal arterial tears (dissections) followed by pseudoaneurysms, walled-in hematomas, and ruptures with only occasional documentation of pre-existing aneurysms. [16][17][18] Loss of function mutations in the pericentrin gene result in clinical MOPD II (as in patient 9 of our series), that in turn results not only in dwarfism but also in cerebrovascular malformations involving weak-walled arteries, including both aneurysms and Moyamoya disease. 19,20 Presumably other as yet undetermined genetic factors play a role in various familial aneurysm syndromes that typically present in adulthood.…”

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

“…We could not determine from the data we had whether there was preexisting aortic enlargement or dissection. The striking excess of deaths in young males, previously commented on by Barabas,13 raises the question of whether assessment of the arterial tree in the second decade in those who can be identified as a result of their positive family history could identify changes that would increase the risk for rupture or dissection.…”

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

“…The vascular type of EDS constitutes approximately 5% of all EDS cases, but this is probably underestimated since only 16% of patients with vascular EDS have symptoms that could indicate EDS before the occurrence of a serious complication [9], and if serious complications occur, it is possible that the complication is not seen in the context of a systemic connective tissue disease [6]. This results in a late or alternatively postmortem diagnosis of EDS [11]. The purpose of this review is to present the most common gastrointestinal diseases and complications in patients with EDS and to describe the investigation and surgical treatment methods recommended for this heterogeneous and complex group of patients.…”