Læknablaðið - 15.06.2012, Síða 35

SJÚKRATILFELLI
Þegar einstaklingur hefur verið greindur með EDS IV skal
fræða hann og læknateymið vel um forvarnir, svo sem að forðast
beri áverka sem hljótast í sumum íþróttum og valkvæðar skurð-
aðgerðir. Mælt er með því að sjúklingar með EDS IV gangi með
MedicAlert-merki eða neyðarkort sem innihaldi helstu upplýsingar
um heilkennið, fylgikvilla þess og frábendingar.
Heimildir
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ENGLISH SUMMARY
Ehlers-Danlos syndrome type IV. Case study and clinical findings
Gudmundsdottir SA', Möller PH'-2, Arngrimsson R' 3
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 indi-
viduals, 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
Key words: Ehlers-Danlos syndrome IV, clinical symptoms, complications.
Correspondence. Reynir Arngrimsson, reynirar@landspitali.is
’Faculty of Medicine, University of lceland. 2Department of Surgery, Landspitali - University Hospital, Reykjavik, lceland 3Department of Genetics and Mole-
cular Medicine, Landspitali - University Hospital, Reykjavik, lceland.
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.
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