Living with Congenital afibrinogenemia
A rare inherited bleeding disorder where the blood does not clot well, with bleeding often starting in the newborn period.
Understanding Congenital afibrinogenemia
People bleed more than expected. Newborns often bleed for a long time from the umbilical cord stump. Nosebleeds and bleeding from the gums or tongue are common, with or without an injury. Some have bleeding into joints or muscles. Women can have heavy periods and may have trouble carrying a pregnancy to term without proper treatment.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bleeding tendency
- Nosebleeds
- Bleeding gums
- Joint swelling from bleeding
- Heavy or long periods
- Long bleeding from the umbilical cord stump in newborns
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Bleeding Disorders Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: congenital hypofibrinogenemia; familial afibrinogenemia; fibrinogen deficiency
Patient organizations
- National Bleeding Disorders FoundationCongenital afibrinogenemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital afibrinogenemia.
Explore research for Congenital afibrinogenemia
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- Eligibility is confirmed by the study team
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