ABSTRACT
Congenital factor XI deficiency is a rare intrinsic coagulation factor. We treated a 67-year-old man with abdominal aortic aneurysm, in whom activated partial thromboplastin time (APTT) found to be prolonged preoperatively. After fresh frozen plasma (FFP) was given before surgery, aneurysm was successfully replaced by a woven Dacron graft. No bleeding tendency was noted during the operation and FFP was also administered during and after surgery. The patient recovered without incident and left the hospital 13 days after the operation. Since several days are required to determine factor XI activity, APTT is useful as a parameter of coagulation factor activity in the perioperative period.
ABSTRACT
Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder. Bleeding manifestations and clinical findings vary widely, ranging from asymptomatic subjects to patients with hemorrhages that may cause significant handicaps. Treatment has traditionally involved factor VII(FVII) replacement therapy using fresh frozen plasma, prothrombin complex concentrates or plasma-derived FVII concentrates. Recombinant activated FVII (NovoSeven(R)) is currently considered the first-line treatment for replacement therapy of FVII deficiency. Here we present a case of severe intracerebral and intraventricular hemorrhage in a neonate with congenital FVII deficiency.
Subject(s)
Humans , Infant, Newborn , Blood Coagulation Factors , Factor VII , Factor VII Deficiency , Hemorrhage , Intracranial Hemorrhages , Plasma , ProthrombinABSTRACT
Cerebral arteriovenous malformation is a common cerebrovascular disease.Its exact pathogenesis remains unclear.At present,it is thought that this disease is caused by kinds of factors,including congenital and acquired factors.
ABSTRACT
Congenital factor Vll deficiency is a rare bleeding disorder with an estimated incidence of 1 in 500,000. It is inherited as an autosomal recessive pattern with variable expression and high penetrance. In severely affected patients, repeated hemarthroses, chronic crippling hemarthropathy, and dangerous hematomas can occur. Other types of hemorrhage include epistaxis, menorrhagia, hematuria, gastrointestinal and gingival bleeding. Fetal cerebral hemorrhage has been reported, although less frequently than in severe hemophilia A or B. It is characterized by normal partial thromboplastin time and prolonged prothrombin time. Definitive diagnosis rests on a specific assay for factor Vll clotting activity. Replacement therapy is necessary to control the hemorrhage. Conventional prophylaxis and therapy in this disorder have consisted of fresh frozen plasma (FFP) or prothrombin complex concentrate. We experienced a case of intraventricular hemorrhage and hydrocephalus in a 4-year-old girl who had been diagnosed with congenital factor Vll deficiency during her neonatal period. She presented with episodes of frontal headache, frequent vomiting and malnutrition. We report this case with a brief review and related literatures.
Subject(s)
Child, Preschool , Female , Humans , Cerebral Hemorrhage , Diagnosis , Epistaxis , Factor VII Deficiency , Factor VII , Headache , Hemarthrosis , Hematoma , Hematuria , Hemophilia A , Hemorrhage , Hydrocephalus , Incidence , Malnutrition , Menorrhagia , Partial Thromboplastin Time , Penetrance , Plasma , Prothrombin , Prothrombin Time , VomitingABSTRACT
Congenital factor VII deficiency is a rare coagulation disorder transmitted in autosomal recessive pattern and is characterized by prolonged prothrombin time with normal activated partial thromboplastin time. It is confirmed by specific factor VII assay. Heterozygotes are generally asymptomatic and homozygotes may present variety of bleeding symptom. But heterozygotes are not always asymptomatic and that patients should receive replacement of factor VII for their operation or abnormal bleeding. We experienced 2 cases of congenital factor VII deficiency diagnosed by prolonged prothrombin time and factor VII assay in routine preoperative evaluation. One was a 27-year-old female who seemed to be an asymptomatic heterozygote underwent orthopedic surgical procedure successfully without abnormal bleeding after receiving fresh frozen plasma. Another was a 18-year-old male who also seemed to be a heterozygote including his family had bleeding symptom such as epistaxis.