Subject(s)
Arachnoid Cysts/complications , Cysts/complications , Heart Diseases/complications , Kidney Diseases, Cystic/complications , Arachnoid Cysts/diagnosis , Cysts/diagnosis , Heart Diseases/diagnosis , Humans , Kidney Diseases, Cystic/diagnosis , Magnetic Resonance Imaging , Male , Middle Aged , Tomography, X-Ray ComputedABSTRACT
Activated C protein resistance is a common coagulation defect caused by factor V Leiden mutation and is associated with an augmented risk of predominantly venous thrombosis. Augmented tendency to arterial thrombosis is sporadically reported. This case report describes femoropopliteal thrombosis in a young patient with heterozygous V Leiden factor mutation. Progressive thrombotic occlusion required amputation of the forefoot which resulted in stump dehiscence. Poor blood supply to the perilesional substrate delayed wound healing. An optimal though not yet definitive result was achieved after months of accurate medication. The criticality of lower limb ischemia in an otherwise healthy young patient underscores the grave impact this condition can have on the patient's quality of life and on health care costs.
Subject(s)
Factor V/genetics , Femoral Artery , Mutation , Popliteal Artery , Thrombosis/genetics , Activated Protein C Resistance/genetics , Adult , Amputation, Surgical/adverse effects , Amputation, Surgical/methods , Heterozygote , Humans , Male , Thrombosis/complications , Thrombosis/surgery , Wound HealingABSTRACT
Several authors have reported aortic dissection in Marfan's syndrome with familial incidence. Cases of dissecting aortic aneurysms have likewise been described in families whose members had severe systemic arterial hypertension. We report 4 cases of familial aortic aneurysm, 3 of whom had a dissection, in the absence of Marfan's phenotype but with histologic findings and genetic transmission similar to those previously described as formes frustes of Marfan's syndrome.