Dysfibrinogenemia

What is dysfibrinogenemia? 

Symptoms of dysfibrinogenemia

Some children with dysfibrinogenemia may not have any symptoms at all.

Signs and symptoms of dysfibrinogenemia may include: 

• Prolonged bleeding or bleeding more than usual 
• Blood clot formation in a blood vessel (thrombosis)

Causes of dysfibrinogenemia

There are 2 types of dysfibrinogenemia: inherited and acquired.

Inherited dysfibrinogenemia is caused by a gene change (mutation) passed down to a child from one of their parents. 

Acquired dysfibrinogenemia is linked to another cause or underlying condition, such as cancers or treatments. Acquired dysfibrinogenemia can also happen if your child has an autoimmune disease (when the body’s immune system attacks itself).  

Diagnosis of dysfibrinogenemia  

Your child’s doctor may refer your child to a hematologist, a doctor who diagnoses and treats blood disorders. Dysfibrinogenemia is diagnosed based on your child’s medical history, physical exam, and lab tests.

Lab tests may include:  

• A complete blood count (CBC) 
• A blood test to measure the amount of fibrinogen protein in the blood 
• Blood clotting tests 

Blood clotting tests (also called blood coagulation panels) measure the time it takes for blood to clot. This test shows if the fibrinogen protein is working correctly.

Blood clotting tests include other blood tests like PT (prothrombin time), aPTT (activated partial thromboplastin time), and TT (thrombin time). These tests give the care team more detailed blood clotting information.

Treatment of dysfibrinogenemia  

Your child’s treatment will depend on their symptoms, their medical problems, and your family’s history of blood clotting and bleeding problems. If dysfibrinogenemia is linked to another condition, it is important to identify and treat the underlying cause.

Many people with dysfibrinogenemia do not need treatment. But your child may need treatments to manage bleeding or to help prevent complications.

Treatments include: 

• Aminocaproic acid (Amicar®): This is a medicine that helps stop nosebleeds, gum bleeding, mouth and lip bleeds, and heavy periods in females. 
• Heparin: This medicine can help stop blood clots from forming if blood clots are forming too much. 
• Cryoprecipitate: This is a blood product made by combining frozen blood and frozen blood plasma (the liquid part of the blood) to help your child’s blood clot properly if they need surgery or are injured.

Tips to prevent bleeding

• Do not give your child aspirin or NSAIDs such as Ibuprofen, as they can cause more bleeding in people with dysfibrinogenemia.  
• Practice good oral care to prevent tooth decay and gum problems. Brush teeth gently with a soft toothbrush. Get regular dental check-ups. 
• Let all health care providers know about your child’s risk of bleeding, especially before surgery or dental procedures. Special care may be needed before and after the procedure. 
• Have your child wear a medical alert bracelet with information about their health conditions. 
• Be sure your child wears protective equipment for physical activities. Avoid sports with physical contact, such as boxing, soccer, lacrosse, and football. Your child could bleed more if injured.  

Questions to ask your care team

• What type of dysfibrinogenemia does my child have?
• What are my child’s treatment options?
• How will dysfibrinogenemia affect my child’s daily life?
• Are there any medicines, supplements, or activities that my child should avoid due to the risk of injury or bleeding?
• What symptoms do I need to watch for and report immediately?
• What is the long-term outlook for my child?
• What follow-up appointments and medical care will my child need?

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