Preferred Label : Hereditary factor V deficiency;
ICD-11 definition : Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma
levels of factor V (FV) and characterized by mild to severe bleeding symptoms. Prevalence
of homozygous forms is estimated at 1/1,000,000. Both sexes are equally affected.
Congenital FV deficiency can manifest at any age, with the most severe forms manifesting
early in life. Common clinical signs include epistaxis, bruising, mucosal bleeding,
soft tissue bleeding, and hemarthrosis. Excessive and prolonged bleeding during or
following surgery, delivery or trauma are frequent. Women may present with menorrhagia.
In severe forms of the disease, there can be a risk of intracranial, pulmonary or
gastrointestinal bleedings. The severity of the bleeding manifestations correlates
with the FV levels. Congenital FV deficiency is caused by mutations in the F5 gene
(1q23) controlling the production of plasma FV. Transmission is autosomal recessive.
Diagnosis is based on prolonged prothrombin and activated partial thromboplastin times
(PT, aPTT) and on low FV levels measured using a PT based assay. The bleeding time
(BT) may be prolonged. Molecular testing is available, but unnecessary for diagnosis.
Differential diagnoses include factor VIII deficiency, and combined deficiency of
factor V and factor VIII (see these terms). Fresh frozen plasma (FFP) is the only
treatment as FV concentrates are not available. In acute cases of severe bleeding,
the addition of platelet concentrates may be helpful. Prognosis is good with early
diagnosis and adequate treatment.;
ICD-11 synonym : Proaccelerin deficiency; Parahemophilia; Owren disease;
ICD-11 inclusion : Deficiency of factor V; congenital factor V deficiency; hereditary factor V deficiency disease; Deficiency of factor V, labile;
Origin ID : 1969994731;
Automatic exact mappings (from CISMeF team)
- Validated automatic mappings to NTBT
Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma
levels of factor V (FV) and characterized by mild to severe bleeding symptoms. Prevalence
of homozygous forms is estimated at 1/1,000,000. Both sexes are equally affected.
Congenital FV deficiency can manifest at any age, with the most severe forms manifesting
early in life. Common clinical signs include epistaxis, bruising, mucosal bleeding,
soft tissue bleeding, and hemarthrosis. Excessive and prolonged bleeding during or
following surgery, delivery or trauma are frequent. Women may present with menorrhagia.
In severe forms of the disease, there can be a risk of intracranial, pulmonary or
gastrointestinal bleedings. The severity of the bleeding manifestations correlates
with the FV levels. Congenital FV deficiency is caused by mutations in the F5 gene
(1q23) controlling the production of plasma FV. Transmission is autosomal recessive.
Diagnosis is based on prolonged prothrombin and activated partial thromboplastin times
(PT, aPTT) and on low FV levels measured using a PT based assay. The bleeding time
(BT) may be prolonged. Molecular testing is available, but unnecessary for diagnosis.
Differential diagnoses include factor VIII deficiency, and combined deficiency of
factor V and factor VIII (see these terms). Fresh frozen plasma (FFP) is the only
treatment as FV concentrates are not available. In acute cases of severe bleeding,
the addition of platelet concentrates may be helpful. Prognosis is good with early
diagnosis and adequate treatment.
