Congenital coagulation factor V deficiency with intracranial hemorrhage

Abstract

Background Congenital coagulation factor V (FV) deficiency is a very rare hemorrhagic disease with an incidence of approximately one in a million. The common clinical manifestations of FV deficiency include ecchymosis and mucosal bleeding. Life‐threatening intracranial bleeding is rare. It has been reported in several cases. However, the molecular basis has been established in only a few cases. Methods We reported a 2‐month‐old girl with congenital FV deficiency and intracranial hemorrhage. Coagulation screening combined with clinical manifestations was performed to diagnose congenital FV deficiency. Genetic testing was performed to identify the pathogenic genes. A literature review was included to emphasize the clinical manifestation, diagnosis, and treatment for congenital FV deficiency with intracranial bleeding. Results The coagulation tests revealed a significantly prolonged prothrombin time (PT) of 51 s and an activated partial thromboplastin time (APTT) of 73.7 s. The patient had a plasma FV activity of 0.9%. Genetic testing showed compound heterozygous mutations of the patient's FV gene. A literature review showed that patients with homozygous or compound heterozygous variants of the FV gene were often associated with a severe bleeding phenotype. Conclusion Our study provides a direction for the rapid and accurate diagnosis and treatment for FV deficiency to avoid life‐threatening bleeding. Infants with spontaneous cranial hematoma and intracranial hemorrhage should be investigated for underlying hemostatic defects. Congenital coagulation factor deficiency should be considered. Once congenital FV deficiency is diagnosed, fresh frozen plasma (FFP) should be given on a regular basis. Liver transplantation may be performed in severe cases.

Severe factor V deficiency in infants

“…Factor V (FV, proaccelerin), one of the plasma coagulation factors, is a glycoprotein discovered in 1943 by Paul Owren while examining women with hemophilia-like bleeding symptoms [3]. The factor V gene (F5 gene) is located on the long arm of chromosome 1 at position 23 [4,7]. It is synthesized by hepatocytes.…”

“…Congenital factor V deficiency, also known as Owren's Disease or parahemophilia, is a very rare bleeding disorder with a frequency of 1:1,000,000 in the general population, and is inherited in an autosomal recessive manner [3,4]. The disease is diagnosed most frequently in Iranians (approx.…”

“…Due to the lack of concentrates containing only FV, the treatment of patients with a deficiency of this factor is based on the transfusion of fresh-frozen plasma [3,4,7,9]. The recommended doses, and the frequency of transfusions, depend on the activity of the factor in the patient and the clinical situation.…”

“…Congenital factor V (FV) deficiency is a very rare bleeding disorder, occurring with a frequency of 1:1,000,000 in the general population, and is inherited in an autosomal recessive manner [3,4].…”

Recovery of factor V activity is delayed with reperfusion injury after liver transplant

“…To date, 22 cases of intracranial hemorrhages have been reported in patients with congenital FV deficiency. 5 Fresh frozen plasma (FFP) administration is the mainstay of treatment for FV deficiency to keep the activity level above 20%. However, repeated administration of FFP predisposes patients to inhibitor development.…”