What blood disorder causes internal bleeding?

According to the Centers for Disease Control and Prevention, von Willebrand disease is the most common inherited bleeding disorder, affecting up to 1% of the U.S. population. Understanding what blood disorder causes internal bleeding is crucial for proper diagnosis and treatment, as these conditions prevent the body's natural ability to form clots.

Quick Summary

Several disorders cause internal bleeding by interfering with the blood's clotting process, including inherited conditions like hemophilia and von Willebrand disease, and acquired issues like severe thrombocytopenia and disseminated intravascular coagulation (DIC).

Key Points

• Hemophilia: This is an inherited bleeding disorder caused by a lack of specific clotting factors, leading to spontaneous or injury-induced internal bleeding into joints and muscles.

• Von Willebrand Disease (VWD): The most common hereditary bleeding disorder, VWD is caused by a defect in von Willebrand factor, which impairs platelet function and clotting.

• Immune Thrombocytopenia (ITP): An autoimmune disorder, ITP causes the body to destroy its own platelets, resulting in a low platelet count and increased risk of bleeding.

• Disseminated Intravascular Coagulation (DIC): This is a life-threatening, acquired condition where the body's clotting system fails, leading to both excessive clotting and widespread internal bleeding.

• Diagnosis: Diagnosing these disorders involves specialized blood tests, including clotting factor assays and platelet counts, often starting with a review of a patient’s bleeding history.

The complex role of blood clotting

Your body's ability to stop bleeding is a marvel of biological engineering, involving a complex cascade of clotting factors and platelets. When a blood vessel is injured, platelets rush to the site to form a plug. This triggers a series of chemical reactions involving various proteins, known as clotting factors, that ultimately create a stable fibrin clot to seal the wound. In individuals with certain blood disorders, this process is disrupted, leading to prolonged and potentially life-threatening bleeding, both externally and internally.

Hemophilia: The classic bleeding disorder

Hemophilia is a well-known inherited bleeding disorder that primarily affects males. It is caused by a deficiency in specific clotting factors.

• Hemophilia A: This is the most common type, resulting from a missing or defective clotting factor VIII.
• Hemophilia B: Also known as Christmas disease, this is caused by a deficiency of clotting factor IX.

For individuals with severe forms of hemophilia, internal bleeding can occur spontaneously, without any apparent injury. Common sites for internal bleeding include:

• Joints: Bleeding into joints, especially knees, elbows, and ankles, can cause significant pain, swelling, and long-term joint damage.
• Muscles: Bleeding into muscles can lead to hematomas (large areas of bruising) and nerve damage.
• The Brain: This is the most serious complication of hemophilia, as bleeding in the brain can be life-threatening.

Von Willebrand disease (VWD): The most common hereditary type

Von Willebrand disease is the most common inherited bleeding disorder, caused by a deficiency or defect in von Willebrand factor (VWF). VWF is a protein that helps platelets stick together and carries clotting factor VIII. Because VWD can be mild, many people are unaware they have it until a surgical procedure or traumatic event. The severity depends on the type.

• Type 1: The most common and mildest form, with lower than normal levels of VWF.
• Type 2: Normal or near-normal levels of VWF, but the protein does not work correctly. There are several subtypes.
• Type 3: The rarest and most severe form, with very low or no VWF. This type can cause severe internal bleeding, similar to hemophilia.

Immune thrombocytopenia (ITP): When the immune system attacks

Unlike inherited disorders, Immune thrombocytopenia is an autoimmune condition where the body's immune system mistakenly attacks and destroys its own platelets. With a low platelet count (thrombocytopenia), the blood's ability to clot is severely compromised. ITP can be acute, often following a viral infection in children, or chronic, lasting for months or years in adults. The risk of internal bleeding increases significantly as the platelet count drops. Internal bleeding signs may include blood in the urine or stool and, in severe cases, bleeding in the brain.

Disseminated intravascular coagulation (DIC): A widespread clotting catastrophe

Disseminated intravascular coagulation is a severe, life-threatening condition where the body's clotting system becomes overactive and then crashes. It is not a primary disease but a complication of another severe medical condition, such as sepsis, trauma, or cancer. In DIC, the body first forms tiny, widespread clots that consume all the available clotting factors and platelets. This is followed by a dangerous phase of excessive bleeding, both internal and external, as the body can no longer form clots to stop blood flow.

How blood disorders cause internal bleeding

Blood disorders cause internal bleeding by fundamentally disrupting the hemostatic process—the body's natural method of stopping blood loss. The specific mechanism depends on the disorder:

• Insufficient clotting factors: In hemophilia, the deficiency of factor VIII or IX prevents the coagulation cascade from completing, so a stable fibrin clot cannot form.
• Faulty platelet adhesion: VWD impairs the function of von Willebrand factor, which is essential for platelets to adhere to the site of injury and each other.
• Low platelet count: In ITP, the destruction of platelets means there are not enough of these crucial cellular fragments to initiate the initial plug formation.
• Systemic coagulation failure: DIC involves a two-phase process where initial widespread clotting consumes all necessary resources, leading to a profound bleeding state.

Comparison of blood disorders causing internal bleeding

Feature	Hemophilia	Von Willebrand Disease (VWD)	Immune Thrombocytopenia (ITP)	Disseminated Intravascular Coagulation (DIC)
Cause	Inherited deficiency of factor VIII or IX	Inherited defect or deficiency of von Willebrand factor (VWF)	Autoimmune destruction of platelets	Systemic complication of severe illness or trauma
Mechanism	Impaired coagulation cascade	Defective platelet adhesion and reduced VWF/Factor VIII	Low platelet count	Widespread clotting followed by bleeding
Severity	Ranges from mild to severe	Ranges from mild (most common) to severe (rare)	Ranges from mild to life-threatening	Always a severe, critical condition
Onset	Present at birth	Present at birth	Can be acute or chronic; onset at any age	Acute, develops secondary to another illness
Internal Bleeding Risk	Spontaneous or traumatic, especially in joints and muscles	In severe cases, spontaneous bleeding can occur	High risk with very low platelet counts	Very high risk; widespread and life-threatening

Diagnosis and treatment

Diagnosing these conditions involves a thorough review of medical and family history, a physical exam, and specific blood tests. Treatment strategies vary widely depending on the underlying cause and severity.

1. Blood Tests: A complete blood count (CBC) measures platelet levels. Specific tests like clotting factor assays or VWF analysis are used to diagnose hemophilia and VWD.
2. Genetic Testing: Can identify specific genetic mutations causing inherited disorders.
3. Treatment Options:
   • Replacement Therapy: For hemophilia, regular infusions of the missing clotting factor are the standard treatment.
   • Desmopressin (DDAVP): A medication that can increase VWF and factor VIII levels, effective for mild VWD and some types of hemophilia.
   • Medications for ITP: Corticosteroids or other drugs can suppress the immune system to slow platelet destruction. Platelet transfusions may be used for severe bleeding.
   • Addressing the Underlying Cause: The primary focus for DIC is to treat the medical condition that triggered it, such as an infection or trauma.

If you experience unexplained or excessive bleeding, it is crucial to seek prompt medical attention. Proper diagnosis and management are essential for preventing severe complications from these potentially dangerous disorders. For more information on hemophilia and other blood disorders, visit the National Hemophilia Foundation.

Frequently Asked Questions

What are the common early signs of a bleeding disorder?

Early signs can include easy or excessive bruising, frequent and heavy nosebleeds, prolonged bleeding from minor cuts, and unexplained blood in urine or stool. Women may also experience unusually heavy menstrual bleeding.

Can a person have a bleeding disorder and not know it?

Yes, it is possible. Many people with mild forms of bleeding disorders like von Willebrand disease have few or no symptoms and may not be diagnosed until adulthood, often following a surgical procedure or injury.

Is internal bleeding from a blood disorder always painful?

Not necessarily. While bleeding into joints or muscles can cause significant pain, internal bleeding into organs like the brain can initially be painless. Other forms of bleeding, such as into the gastrointestinal tract, may manifest as bloody or dark, tarry stools.

How is a blood disorder that causes internal bleeding diagnosed?

Diagnosis typically involves a physical examination and several blood tests. These can include a complete blood count (CBC) to check platelet levels, as well as specific tests to measure clotting factor activity and function.

How is internal bleeding from a blood disorder treated?

Treatment varies by condition. For hemophilia, it involves replacing the missing clotting factor. For ITP, medications can suppress the immune system. For DIC, treating the underlying medical condition is the priority, along with supportive care like transfusions.

What is the difference between an inherited and acquired blood disorder?

An inherited blood disorder, like hemophilia, is caused by genetic mutations and is present from birth. An acquired disorder, such as ITP or DIC, develops later in life and is often triggered by other illnesses, medications, or immune responses.

Are there medications that can worsen bleeding disorders?

Yes. Medications such as aspirin, NSAIDs (nonsteroidal anti-inflammatory drugs) like ibuprofen, and blood-thinning medications can increase the risk of bleeding and should be used with caution by individuals with bleeding disorders, and only under medical supervision.