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Ann R Coll Surg Engl ; 97(5): e73-6, 2015 Jul.
Article in English | MEDLINE | ID: mdl-26264107

ABSTRACT

We report two patients who presented with extensive aneurysmal disease, in association with minimal external physical signs. Patient 1 remained genetically undiagnosed despite multiple structural, biochemical and genetic investigations. He made a good recovery following surgery for popliteal and left axillary artery aneurysms. Patient 2 was diagnosed with vascular type Ehlers-Danlos syndrome, associated with a high degree of tissue and blood vessel fragility, and is being managed conservatively. Early multidisciplinary assessment of such patients facilitates accurate diagnosis and management.


Subject(s)
Aneurysm/genetics , Aneurysm/surgery , Aneurysm/diagnosis , DNA Mutational Analysis , Ehlers-Danlos Syndrome/diagnosis , Ehlers-Danlos Syndrome/genetics , Ehlers-Danlos Syndrome/surgery , Female , Humans , Male , Middle Aged , Vascular Surgical Procedures
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