[Ehlers-Danlos syndrome type IV. Case study and clinical findings].
We describe Ehlers-Danlos syndrome type IV in adult patients with a confirmed diagnosis and a systematic review of expected clinical findings in the disease. Serious complications were found in four individuals, two with gastrointestinal perforation at the age of 32 years, two had died from an aortic rupture (34 and 44 years old) and one has been diagnosed with aortic root dilatation. Most had also less severe clinical features such as varicose veins, easy bruising, thin and translucent skin, chronic joint subluxation or dislocation or pes planus. None of the females had uterine rupture or premature birth. Management and surveillance options were reviewed.
University of Iceland, Iceland.
Signy Asta
SA
Gudmundsdottir
Pall Helgi
PH
Moller
Reynir
R
Arngrimsson
D000328:Adult; D000368:Aged; D001014:Aortic Aneurysm / Q000209:etiology; D001019:Aortic Rupture / Q000209:etiology; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000628:therapy; D017809:Fatal Outcome; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016896:Treatment Outcome