Proconvertin deficiency, congenital
Proconvertin deficiency, congenital | |
---|---|
[[File:|250px|]] | |
Synonyms | Factor VII deficiency |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Easy bruising, nosebleeds, heavy menstrual bleeding |
Complications | Hemorrhage |
Onset | Birth |
Duration | Lifelong |
Types | N/A |
Causes | Genetic mutation |
Risks | Family history |
Diagnosis | Blood test, Genetic testing |
Differential diagnosis | N/A |
Prevention | N/A |
Treatment | Replacement therapy, Vitamin K |
Medication | N/A |
Prognosis | N/A |
Frequency | Rare |
Deaths | N/A |
Proconvertin deficiency, congenital, also known as Factor VII deficiency, is a rare genetic disorder characterized by a deficiency in Factor VII, a crucial protein in the coagulation cascade. This condition leads to a tendency for bleeding due to impaired blood clotting.
Pathophysiology[edit | edit source]
Factor VII is a vitamin K-dependent glycoprotein produced in the liver. It plays a vital role in the initiation of the coagulation cascade by activating Factor X in the presence of tissue factor. A deficiency in Factor VII results in a prolonged prothrombin time (PT) and can lead to bleeding diathesis.
Genetics[edit | edit source]
Congenital proconvertin deficiency is inherited in an autosomal recessive manner. Mutations in the F7 gene, located on chromosome 13, are responsible for this condition. Both parents must carry one copy of the mutated gene to pass the condition to their offspring.
Clinical Presentation[edit | edit source]
Symptoms of congenital proconvertin deficiency can vary widely, ranging from mild to severe. Common symptoms include:
- Easy bruising
- Frequent nosebleeds (epistaxis)
- Heavy or prolonged menstrual bleeding (menorrhagia)
- Bleeding after surgery or trauma
Severe cases may present with spontaneous intracranial hemorrhage or gastrointestinal bleeding.
Diagnosis[edit | edit source]
Diagnosis is typically made through:
- Coagulation tests: Prolonged prothrombin time (PT) with normal activated partial thromboplastin time (aPTT).
- Genetic testing: Identification of mutations in the F7 gene.
Treatment[edit | edit source]
Management of congenital proconvertin deficiency focuses on preventing and controlling bleeding episodes. Treatment options include:
- Replacement therapy: Administration of recombinant Factor VIIa or plasma-derived Factor VII concentrates.
- Vitamin K supplementation: May be beneficial in some cases, especially if dietary intake is inadequate.
- Antifibrinolytic agents: Such as tranexamic acid, to prevent bleeding during surgical procedures.
Prognosis[edit | edit source]
With appropriate management, individuals with congenital proconvertin deficiency can lead relatively normal lives. However, they must be cautious to avoid situations that could lead to bleeding and should be under regular medical supervision.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD