Ischemic stroke in young patients with activated protein C resistance : a report of three cases belonging to three different kindreds

• Published in: Stroke (1970) 1995-05, Vol.26 (5), p.885-890
• Main Authors: SIMIONI, P, DE RONDE, H, PRANDONI, P, SALADINI, M, BERTINA, R. M, GIROLAMI, A
• Format: Article
• Language: English
• Subjects: Adult; Aged; Biological and medical sciences; Brain Ischemia - etiology; Brain Ischemia - genetics; C-Reactive Protein - metabolism; Factor V - genetics; Female; Humans; Infant; Male; Medical sciences; Neurology; Pedigree; Thrombophlebitis - complications; Vascular diseases and vascular malformations of the nervous system
• ISSN: 0039-2499; 1524-4628
• DOI: 10.1161/01.STR.26.5.885

A new pathological condition termed "activated protein C (APC) resistance" has recently been reported to be the most common hereditary blood coagulation disorder associated with familial thrombosis. APC resistance is characterized by a poor anticoagulant response to APC in the plasma of patients and is due to a defect of factor V. This report deals with three Italian families with inherited APC resistance in which stroke had occurred at a young age in one of the family members. One of the patients exhibited ischemic stroke at 8 months of age. Although deep vein thrombosis is considered the main clinical manifestation of the defect, its possible association with stroke is discussed. DNA analysis confirmed the presence of the 1691GA mutation in the factor V gene (factor V Leiden) in all patients with a normalized APC sensitivity ratio of less than 0.70. In three cases the APC sensitivity ratios were very low (approximately 1.2), with a normalized APC sensitivity ratio of approximately 0.4. DNA analysis confirmed that these patients were homozygous for the mutation. The clinical history of these patients suggests that homozygosity for the defect is compatible with life and does not seem to be associated with early or more severe thrombophilia compared with homozygous defects of other clotting inhibitors. The cases reported here suggest a possible association of inherited APC resistance with ischemic stroke in young patients. Case-control studies should be performed to assess the true association.