A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease.
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.
Outer London North West Vascular Unit, Northwick Park Hospital, London North West Healthcare NHS Trust , UK.
K A
KA
Jones
A M T L
AM
Choong
North West London Regional Genetics Service, Level 8V, Saint Mark's Hospital, London North West Healthcare NHS Trust , UK.
N
N
Canham
Outer London North West Vascular Unit, Northwick Park Hospital, London North West Healthcare NHS Trust , UK.
S
S
Renton
Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospitals NHS Foundation Trust , UK.
R
R
Pollitt
Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospitals NHS Foundation Trust , UK.
M
M
Nesbitt
Department of Radiology, Northwick Park Hospital, London North West Healthcare NHS Trust , UK.
D
D
Kopcke
West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust , UK.
L
L
Islam
Department of Infectious diseases, Northwick Park Hospital, London North West Healthcare NHS Trust , UK.
J
J
Buckley
N
N
Ghali
A
A
Vandersteen
D000783:Aneurysm / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D014656:Vascular Surgical Procedures
Aneurysmosis; Ehlers–Danlos syndrome; Genetics; Loeys–Dietz syndrome; Marfan syndrome