Clotting Factor Deficiencies
Bleeding disorders from missing clotting proteins
Quick Facts
- Type: Bleeding (coagulation) disorder
- Cause: Missing or low clotting factor proteins
- Inherited examples: Hemophilia, von Willebrand disease
- Main feature: Easy bruising and prolonged bleeding
Overview
When a blood vessel is injured, the body forms a clot to stop the bleeding. This requires a series of proteins called clotting factors, which work together in a step-by-step chain. A clotting factor deficiency means that one of these proteins is missing, present in low amounts, or not working properly. Without enough of a particular factor, the blood cannot clot effectively, and bleeding lasts longer than it should.
Some factor deficiencies are inherited and present from birth, such as hemophilia and von Willebrand disease. Others are acquired later in life from conditions like liver disease, vitamin K deficiency, or the use of blood-thinning medications. The severity ranges from mild, with bleeding only after surgery or injury, to severe, with frequent spontaneous bleeding into joints and muscles.
Symptoms
Symptoms reflect a reduced ability to stop bleeding and vary with how severe the deficiency is.
- Easy or excessive bruising
- Prolonged bleeding from cuts, dental work, or surgery
- Frequent or hard-to-stop nosebleeds
- Heavy or prolonged menstrual periods
- Bleeding into joints or muscles, causing pain and swelling, in severe deficiencies
- Blood in the urine or stool
Severe or uncontrolled bleeding, bleeding into the head or a joint, or signs of internal bleeding such as severe headache or weakness are emergencies. Call emergency services right away.
Causes
Factor deficiencies are grouped by whether they are inherited or acquired.
- Inherited deficiencies: Genetic conditions present from birth, including hemophilia (low factor VIII or IX) and von Willebrand disease, as well as rarer deficiencies of other factors.
- Liver disease: The liver makes most clotting factors, so liver damage reduces their levels.
- Vitamin K deficiency: Vitamin K is needed to make several clotting factors.
- Anticoagulant medications: Blood thinners deliberately reduce the activity of certain factors.
- Acquired inhibitors: Rarely, the immune system makes antibodies that block a clotting factor.
Risk Factors
- A family history of a bleeding disorder
- Liver disease
- Poor nutrition or conditions that reduce vitamin K
- Use of anticoagulant (blood-thinning) medications
- Certain autoimmune conditions that can produce factor inhibitors
Diagnosis
Diagnosis identifies which factor is deficient and how severely.
- Clotting tests: Screening blood tests measure how long the blood takes to clot and point to where the problem lies.
- Specific factor assays: Measure the level and activity of individual clotting factors.
- Inhibitor testing: Checks for antibodies that block a factor.
- Additional tests: Liver function and vitamin K status when an acquired cause is suspected.
Treatment
Treatment depends on which factor is affected, the severity, and whether the cause is inherited or acquired.
- Factor replacement: Concentrates of the missing factor are given to treat or prevent bleeding, the mainstay for hemophilia and some other deficiencies.
- Other targeted therapies: Medicines that help release stored clotting factors or newer treatments that improve clotting.
- Vitamin K and plasma: Vitamin K for deficiency, and plasma products to replace multiple factors when needed.
- Treating the cause: Managing liver disease, adjusting anticoagulants, or suppressing factor inhibitors.
- Supportive measures: Avoiding drugs that worsen bleeding and protecting joints from injury.
Prevention and Self-Care
- If you have an inherited deficiency, follow your hematologist's treatment and prevention plan
- Avoid aspirin and anti-inflammatory painkillers unless approved by your doctor
- Wear medical identification noting your bleeding disorder
- Take steps to prevent injury, and care for joints if they are affected
- Maintain good nutrition and treat liver disease and vitamin deficiencies
When to See a Doctor
See a doctor for unexplained easy bruising, prolonged bleeding, or a family history of a bleeding disorder. Seek emergency care immediately for:
- Bleeding that will not stop
- Bleeding into a joint or muscle with pain and swelling
- A head injury, severe headache, confusion, or weakness, which may signal bleeding in the brain
- Signs of internal bleeding, such as vomiting blood or black stools
Frequently Asked Questions
What are clotting factor deficiencies?
They are bleeding disorders caused by a missing, low, or poorly working clotting factor, one of the proteins the blood needs to form a clot. Without enough of a particular factor, bleeding lasts longer than it should, causing easy bruising and prolonged bleeding.
Are factor deficiencies inherited?
Some are. Hemophilia and von Willebrand disease are inherited and present from birth. Others are acquired later in life from liver disease, vitamin K deficiency, blood-thinning medications, or rarely antibodies that block a factor.
How are clotting factor deficiencies treated?
Treatment depends on the specific factor and cause. Inherited deficiencies are often treated by replacing the missing factor with concentrates. Acquired forms are managed by treating the cause, giving vitamin K or plasma, or adjusting medications.
When is bleeding an emergency?
Bleeding that will not stop, bleeding into a joint or muscle, or any sign of bleeding in the brain, such as a severe headache, confusion, or weakness after a head injury, is an emergency. Call emergency services right away.
Can people with factor deficiencies take painkillers?
They should avoid aspirin and anti-inflammatory painkillers like ibuprofen unless a doctor approves, because these increase bleeding. Acetaminophen is often a safer choice for pain, but it is best to check with your care team.
References
- National Heart, Lung, and Blood Institute (NHLBI). Bleeding Disorders.
- National Hemophilia Foundation. Bleeding disorders.
- MedlinePlus, U.S. National Library of Medicine. Bleeding disorders.
- Centers for Disease Control and Prevention (CDC). Hemophilia and bleeding disorders.