Congenital factor VII deficiency
Congenital factor VII deficiency
Also known as:F7 deficiency, hypoproconvertinemia, Alexander disease, China Second Rare Disease Catalog item 17
Congenital factor VII deficiency is a rare inherited bleeding disorder caused by F7 gene variants, ranging from no symptoms to nosebleeds, heavy menstrual bleeding, surgical bleeding, or rarely life-threatening bleeding.
Start Here
A quick guide to the next step: which department to start with, what to prepare, and what to ask.
Recurrent nosebleeds, gum bleeding, easy bruising, prolonged bleeding after dental work or surgery, or heavy menstrual bleeding should be assessed by hematology or a coagulation clinic. Severe bleeding needs emergency care.
Factor VII is part of the clotting cascade. In congenital deficiency, the extrinsic pathway is affected, often causing prolonged PT/INR with a usually normal APTT.
Mild disease may need treatment only for bleeding, surgery, trauma, childbirth, or dental work. Severe or frequent bleeding may require recombinant activated factor VII, prothrombin complex concentrate, plasma, antifibrinolytics, or prophylaxis.
It is usually autosomal recessive and related to the F7 gene. Parents may be healthy carriers, so genetic counseling and family assessment are useful after diagnosis.
Some people have little everyday bleeding and are found only during preoperative testing. Prolonged PT may first be attributed to liver disease, vitamin K deficiency, or anticoagulants.
This page helps patients and families organize care leads. It does not replace a clinician’s diagnosis or treatment plan. For testing, medication, referrals, emergency care, and support applications, follow qualified clinicians, medical institutions, support organizations, and official sources.
Diagnosis Path
Organized around the practical patient journey: identify clues, avoid common delays, then prepare for care.
When to Suspect It
- Repeated nosebleeds, gum bleeding, easy bruising, or bleeding that lasts longer than expected after minor injury.
- Significant bleeding after dental extraction, surgery, circumcision, childbirth, or postpartum.
- Heavy or prolonged menstrual bleeding with anemia or repeated iron treatment.
- Laboratory tests show prolonged PT/INR with normal or near-normal APTT and usually normal platelets.
- Umbilical stump bleeding, intracranial bleeding, gastrointestinal bleeding, or joint or muscle bleeding in infancy requires urgent attention.
Common Wrong Turns
- Treating nose, gum, or menstrual bleeding without coagulation screening.
- Giving vitamin K for prolonged PT without checking factor VII activity.
- Proceeding with surgery, dental work, or childbirth without a hemostasis plan.
- Not warning patients about aspirin, NSAIDs, intramuscular injections, or other avoidable bleeding risks.
Departments to Start With
- Hematology
- Coagulation or rare bleeding disorder clinic
- Pediatric hematology
- High-risk obstetrics
Before the Visit
- Record all bleeding events, including site, duration, trigger, transfusion, and hemostatic treatment.
- Bring PT/INR, APTT, fibrinogen, platelets, liver tests, vitamin K treatment records, and factor activity results.
- Summarize dental work, surgeries, childbirth, menstrual bleeding, anemia treatment, and family bleeding history.
- List anticoagulants, antiplatelet medicines, pain medicines, and supplements.
Tests to Ask About
- Repeat coagulation screening: PT/INR, APTT, fibrinogen, and platelet count.
- Factor VII activity, and sometimes other factor assays to rule out common pathway problems.
- F7 genetic testing and family confirmation for genetic counseling.
- Imaging or site-specific assessment for severe bleeding such as head, joint, muscle, urinary, or gastrointestinal bleeding.
Questions for the Doctor
- What is my factor VII activity, and how well does it predict my actual bleeding risk?
- Do I need regular treatment or only treatment for bleeding, surgery, dental work, or childbirth?
- Which medicines and procedures should I avoid, and how should injections or vaccines be handled?
- Should relatives be tested, and how should pregnancy or future children be planned?
- What should I do for nosebleeds, head injury, black stools, blood in urine, or joint swelling?
Basic Information
Medical Notes
More complete medical explanations are kept here for discussion with clinicians.
Symptoms
Congenital factor VII deficiency varies widely. Some people never have notable bleeding. Common symptoms include nosebleeds, gum bleeding, easy bruising, prolonged bleeding after injury or surgery, blood in urine, joint or muscle bleeding, and heavy menstrual or postpartum bleeding.
Severe cases may present in infancy with umbilical stump bleeding, intracranial bleeding, or gastrointestinal bleeding. Bleeding risk does not always match factor VII activity perfectly, so personal bleeding history matters.
Diagnosis
The typical laboratory clue is prolonged PT/INR with a usually normal APTT. Diagnosis requires factor VII activity testing and exclusion of vitamin K deficiency, liver disease, warfarin or other anticoagulants, acquired factor VII deficiency, and other clotting factor problems.
F7 genetic testing can support the congenital diagnosis and family counseling, but treatment decisions still combine bleeding history, factor activity, age, surgery or pregnancy plans, and medication access.
Treatment
Treatment is tailored to bleeding risk and the situation. Mild disease may require treatment only for surgery, dental work, trauma, childbirth, or active bleeding. Options include recombinant activated factor VII, prothrombin complex concentrate, plasma, and antifibrinolytic medicines, depending on bleeding site, severity, and thrombosis risk.
People with severe or frequent bleeding may need prophylaxis. Patients should avoid self-medicating with drugs that increase bleeding risk and should contact hematology before invasive procedures.
Long-term Care
Long-term care includes a personal bleeding record, emergency card or diagnosis letter, dental and surgery plans, menstrual and pregnancy planning, anemia monitoring, and periodic review of factor activity and treatment response.
Children should be followed by a coagulation center, and schools or caregivers should know which injuries or symptoms require urgent care.
Fertility and Family
The condition is usually autosomal recessive. Parents are often carriers, and sibling or child risk depends on partner and family variant status. Genetic counseling and selected relative testing are recommended after diagnosis.
Women with the condition need a delivery and postpartum bleeding plan jointly managed by hematology and obstetrics.
When to Seek Urgent Care
Seek emergency care for head injury followed by headache, vomiting, confusion, or seizures; black stools or vomiting blood; visible blood in urine; rapidly swollen painful joints or muscles; nosebleeds not controlled by pressure; postpartum bleeding; or any uncontrolled bleeding. State clearly that factor VII deficiency is present.
Prognosis
Many mildly affected people do well with situation-based bleeding plans, while severe bleeding phenotypes require long-term hematology follow-up and an emergency plan.