Case Report
Copyright ©2014 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Clin Cases. Mar 16, 2014; 2(3): 75-77
Published online Mar 16, 2014. doi: 10.12998/wjcc.v2.i3.75
Homozygous factor V Leiden mutation in type IV Ehlers-Danlos patient
Marwan Refaat, Mostafa Hotait, Brion Winston
Marwan Refaat, Mostafa Hotait, Brion Winston, Department of Cardiology, American University Medical Center, Beirut 110 72020, Lebanon
Brion Winston, Capital Cardiology Associates, 7 Southwoods Blvd. Albany, NY 12211, United States
Author contributions: Refaat M, Hotait M and Winston B reviewed, designed, edited, and organized the report.
Correspondence to: Marwan Refaat, MD, FACC, FAHA, FHRS, FASE, FESC, FACP, Assistant Professor of Medicine, Department of Cardiology, American University Medical Center, Cairo St, Beirut 110 72020, Lebanon. mr48@aub.edu.lb
Telephone: +961-78-929290 Fax: +961-78-929290
Received: November 12, 2013
Revised: January 2, 2014
Accepted: February 20, 2014
Published online: March 16, 2014
Processing time: 128 Days and 14.2 Hours
Core Tip

Core tip: Hemostatic abnormalities that have already been described in Ehlers-Danlos syndrome patients include platelet abnormalities (release defects, δ-storage pool disease) as well as clotting factor deficiencies that increase the bleeding tendencies of patients. The coexistence of platelet δ-storage pool disease and factor V Leiden mutation in our patient manifested as having aneurysms of the splenic, renal, hepatic, gastric, mesenteric arteries and diffuse aneurysms of the upper and lower extremities as well as bilateral lower extremity deep vein thromboses and pulmonary emboli. This propensity to both bleeding and clotting made the management of our patient challenging on this presentation with acute anterolateral myocardial infarction.