Congenital prekallikrein deficiency

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ORPHA:749OMIM:612423D68.8
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Overview

Congenital prekallikrein deficiency, also known as Fletcher factor deficiency, is a rare inherited blood disorder. It affects a protein in the blood called prekallikrein (sometimes called Fletcher factor), which plays a role in the contact activation pathway — a system that helps blood clot and also affects inflammation and other body processes. When this protein is missing or not working properly, certain lab tests that measure clotting time come back abnormal, which can be alarming at first. Despite the abnormal lab results, most people with congenital prekallikrein deficiency do not have serious bleeding problems in everyday life. This is one of the most important things to understand about this condition: unlike many other clotting disorders, it usually does not cause spontaneous bleeding or excessive bleeding after injury. The condition is often discovered by accident when routine blood tests are done before surgery or for another reason. Because most people with this condition live normal lives without symptoms, treatment is rarely needed. However, it is important for affected individuals to inform their doctors and surgeons before any procedures, so that the care team is aware of the abnormal clotting test results and can plan accordingly. Regular follow-up with a hematologist (blood specialist) is recommended to monitor the condition and provide guidance.

Key symptoms:

Abnormal blood clotting test results (prolonged aPTT) found on routine lab workUsually no spontaneous bleeding episodesRarely, mild bruisingRarely, mild bleeding after surgery or dental proceduresNo joint bleeds (unlike hemophilia)No internal bleeding in most cases

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 Congenital prekallikrein deficiency.

View clinical trials →

No actively recruiting trials found for Congenital prekallikrein deficiency at this time.

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Specialists

1 foundView all specialists →
LM
Lauge Farnaes, MD
Little Rock, Arkansas
Specialist

Rare Disease Specialist

PI on 3 active trials

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 Congenital prekallikrein deficiency.

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Community

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Latest news about Congenital prekallikrein deficiency

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Does my prekallikrein level put me at any real risk of bleeding during surgery or dental procedures?,Should I carry a medical alert card or letter explaining my diagnosis?,Do my close family members need to be tested for this condition?,How often should I have follow-up blood tests or specialist visits?,Are there any medications I should avoid that might increase my bleeding risk?,What should I tell my surgeon or dentist before a procedure?,Is there any new research or treatment being developed for this condition?

Common questions about Congenital prekallikrein deficiency

What is Congenital prekallikrein deficiency?

Congenital prekallikrein deficiency, also known as Fletcher factor deficiency, is a rare inherited blood disorder. It affects a protein in the blood called prekallikrein (sometimes called Fletcher factor), which plays a role in the contact activation pathway — a system that helps blood clot and also affects inflammation and other body processes. When this protein is missing or not working properly, certain lab tests that measure clotting time come back abnormal, which can be alarming at first. Despite the abnormal lab results, most people with congenital prekallikrein deficiency do not have s

How is Congenital prekallikrein deficiency inherited?

Congenital prekallikrein deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Congenital prekallikrein deficiency?

1 specialists and care centers treating Congenital prekallikrein deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.