Combined deficiency of factor V and factor VIII

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ORPHA:35909OMIM:227300D68.8
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Overview

Combined deficiency of factor V and factor VIII (also called F5F8D or combined FV and FVIII deficiency) is a rare inherited bleeding disorder where the body cannot make enough of two important clotting proteins: factor V and factor VIII. These proteins work together to help blood clot properly after an injury. Without enough of both, bleeding takes longer to stop than normal. People with this condition usually experience mild to moderate bleeding symptoms throughout their lives. Common problems include easy bruising, prolonged bleeding after cuts or surgery, heavy menstrual periods in women, and nosebleeds that are hard to stop. Bleeding into muscles or joints, which is more typical of severe hemophilia, is less common in this condition. Treatment focuses on replacing the missing clotting factors when needed, especially before surgery or after an injury. Doctors may use fresh frozen plasma to replace factor V, and factor VIII concentrates or desmopressin (DDAVP) to boost factor VIII levels. With proper medical care and planning, most people with this condition can live full, active lives. Regular follow-up with a hematologist who specializes in bleeding disorders is important for managing this condition safely.

Also known as:

Key symptoms:

Easy or unexplained bruisingProlonged bleeding after cuts, dental work, or surgeryHeavy or prolonged menstrual periodsFrequent or hard-to-stop nosebleedsBleeding from the gumsProlonged bleeding after childbirthOccasional bleeding into muscles or jointsSlow wound healingExcessive bleeding after circumcision in newborn boys

Clinical phenotype terms (18)— hover any for plain English
Reduced factor VIII activityHP:0003125Reduced coagulation factor V activityHP:0003225Prolonged bleeding after dental extractionHP:0006298Bleeding with minor or no traumaHP:0011889Prolonged bleeding following circumcisionHP:0030137Prolonged bleeding after surgeryHP:0004846
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Combined deficiency of factor V and factor VIII.

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No specialists are currently listed for Combined deficiency of factor V and factor VIII.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Combined deficiency of factor V and factor VIII.

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What are my factor V and factor VIII levels, and how severe is my condition?,What treatment will I need before surgery or dental procedures?,Should other family members be tested for this condition?,Are there any activities or medications I should avoid?,What should I do if I have a bleeding episode at home or away from home?,Is there a hemophilia treatment center near me that I should register with?,What are the options for managing heavy periods if this affects me?

Common questions about Combined deficiency of factor V and factor VIII

What is Combined deficiency of factor V and factor VIII?

Combined deficiency of factor V and factor VIII (also called F5F8D or combined FV and FVIII deficiency) is a rare inherited bleeding disorder where the body cannot make enough of two important clotting proteins: factor V and factor VIII. These proteins work together to help blood clot properly after an injury. Without enough of both, bleeding takes longer to stop than normal. People with this condition usually experience mild to moderate bleeding symptoms throughout their lives. Common problems include easy bruising, prolonged bleeding after cuts or surgery, heavy menstrual periods in women,

How is Combined deficiency of factor V and factor VIII inherited?

Combined deficiency of factor V and factor VIII follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.