Congenital factor XI deficiency

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ORPHA:329OMIM:612416D68.1
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1FDA treatments3Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Congenital factor XI deficiency, also known as hemophilia C or Rosenthal syndrome, is a rare inherited bleeding disorder. It is caused by low levels or poor function of factor XI, a protein in the blood that helps form clots to stop bleeding. Unlike other types of hemophilia, the severity of bleeding in factor XI deficiency does not always match how low the factor level is, which can make it unpredictable. People with this condition may experience prolonged bleeding after surgery, dental procedures, or trauma. Women may have heavy or prolonged menstrual periods and bleeding after childbirth. Spontaneous bleeding into joints or muscles, which is common in hemophilia A and B, is rare in factor XI deficiency. Many people with mild deficiency may not know they have the condition until they face a surgical challenge or injury. Treatment focuses on preventing and managing bleeding episodes, especially around surgeries or procedures. Options include fresh frozen plasma, factor XI concentrates (where available), and antifibrinolytic drugs like tranexamic acid. There is no cure, but with proper planning and management, most people with factor XI deficiency live normal, healthy lives.

Also known as:

Key symptoms:

Prolonged bleeding after surgery or dental workHeavy or prolonged menstrual periodsExcessive bleeding after childbirthProlonged bleeding after injury or traumaEasy bruisingNosebleeds that are hard to stopBleeding from the gumsBlood in the urineProlonged bleeding after circumcisionBleeding after tonsil removal or other throat surgery

Clinical phenotype terms (9)— hover any for plain English
Reduced factor XI activityHP:0001929Prolonged bleeding after dental extractionHP:0006298Abnormality of the intrinsic pathwayHP:0010989
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Sep 2018

COAGADEX: FDA approved

COAGADEX is indicated in adults and children with hereditary Factor X deficiency for routine prophylaxis to reduce the frequency of bleeding episodes; on-demand treatment and control of bleeding episodes; and perioperative management of bleeding in patients with mild and moderate hereditary Factor X deficiency.

FDAcompleted

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

COAGADEX

Coagulation factor X (human)· Bio Products Laboratory LimitedOrphan Drug
COAGADEX is indicated in adults and children with hereditary Factor X deficiency for routine prophylaxis to reduce the frequency of bleeding episodes; on-demand treatment and control of bleeding episo

COAGADEX is indicated in adults and children with hereditary Factor X deficiency for routine prophylaxis to reduce the frequency of bleeding episodes; on-demand treatment and control of bleeding episodes; and perioperative management of bleeding in patients with mild and moderate hereditary Factor X deficiency.

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

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Congenital factor XI deficiency community →

Specialists

3 foundView all specialists →
RD
Robert H. Hyland, DPhil
Specialist
PI on 2 active trials
KS
Kenneth E Sherman
Specialist
PI on 1 active trial
PA
Professor Seyed-Moayed Alavian
Specialist
PI on 1 active trial

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 factor XI deficiency.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Congenital factor XI deficiency

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Caregiver Resources

NORD Caregiver Resources

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

Mental Health Support

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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.What is my (or my child's) factor XI level, and what does that mean for bleeding risk?,What precautions should I take before surgery, dental work, or other procedures?,Should I carry a medical alert card or bracelet?,Are there any medications I should avoid, such as aspirin or blood thinners?,What treatment options are available in my area if I have a bleeding episode?,Should my family members be tested for factor XI deficiency?,If I am a woman, how should I manage heavy periods or plan for pregnancy and childbirth?

Common questions about Congenital factor XI deficiency

What is Congenital factor XI deficiency?

Congenital factor XI deficiency, also known as hemophilia C or Rosenthal syndrome, is a rare inherited bleeding disorder. It is caused by low levels or poor function of factor XI, a protein in the blood that helps form clots to stop bleeding. Unlike other types of hemophilia, the severity of bleeding in factor XI deficiency does not always match how low the factor level is, which can make it unpredictable. People with this condition may experience prolonged bleeding after surgery, dental procedures, or trauma. Women may have heavy or prolonged menstrual periods and bleeding after childbirth.

Which specialists treat Congenital factor XI deficiency?

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

What treatment and support options exist for Congenital factor XI deficiency?

1 patient support program are currently tracked on UniteRare for Congenital factor XI deficiency. See the treatments and support programs sections for copay assistance, eligibility, and contact details.