Blood Disorders: Information To Be Aware Of

What is blood?

Blood is a fluid that transports oxygen and nutrients to the cells and carries away carbon dioxide and other waste products. The heart transports blood to all parts of the body. 

What are arteries?

Arteries are blood vessels responsible for carrying oxygen-rich blood away from the heart to the body. 

What are veins?

Veins are blood vessels that carry oxygen-poor blood from the body back to the heart for reoxygenation. 

What is bleeding?

Bleeding, known as a hemorrhage, is a term used to describe blood loss. Internal bleeding occurs when blood leaks through a damaged blood vessel or organ. External bleeding happens when blood exits through a break in the skin. 

What is a blood clot?

Blood clots are semi-solid or gel-like masses that form in your arteries and veins. Blood clots help to control bleeding. Blood clots help to control bleeding, but can cause issues including deep vein thrombosis, pulmonary embolism, and heart attack. 

What is a bleeding disorder?

A bleeding disorder occurs when blood does not clot properly. Improper blood clotting is caused by insufficient amounts of clotting factors. The clotting factor is a protein that works with platelets to help blood clot. The absence of any clotting factors can result in a bleeding disorder. 

A bleeding disorder can cause a person to bleed longer than normal after an injury. They may also experience spontaneous bleeding in joints, muscles, or other parts of their bodies. This bleeding can damage organs and tissue and may be life-threatening. 

Hemophilia

About 1 in 10,000 people are born with hemophilia. Hemophilia is an inherited condition that affects mainly males. Hemophilia causes a wound to bleed for a longer time than normal. Hemophilia Type A occurs when there is not enough clotting factor eight. Hemophilia Type B is caused by low amounts of clotting factor nine. Hemophilia Type B is less common. 

Symptoms of hemophilia types A and B include the following:

  • Large bruises
  • Bleeding into muscles and joints
  • Spontaneous bleeding in the body for no apparent reason
  • Prolonged bleeding following a cut, dental extraction, or surgery.
  • Bleeding for a long time following an incident.

Diagnosis of Hemophilia Types A and B

Hemophilia is diagnosed using the following:

  • Personal and family history
  • Physical exams
  • Blood tests determine how long it takes for blood to clot and whether a person has low levels or is missing clotting factor eight (for type a) or nine (for type b).
  • Chronic villus sampling or fetal blood sampling can be used to diagnose a fetus in-utero if the mother is a known carrier of hemophilia.

Treatment

The main treatment for hemophilia is replacement therapy. During replacement therapy, the patient receives the appropriate clotting factor via injection or intravenous drip. Replacement therapy may be given on a regular (preventative) basis, or it may be used as needed to stop bleeding when it occurs.

Other treatments for hemophilia include the following:

  • Desmopressin
  • Antifibrinolytic medicines 
  • Gene therapy
  • Pain medication
  • Steroids
  • Physical therapy. 

Von Willebrand Disease (VWD)

Von Willebrand Disease is the most common bleeding disorder. It affects 1% of the population. Individuals with VWD have a problem with a protein in their blood called von Willebrand factor (VWF), which helps blood to clot. Symptoms are commonly mild and are not exposed until there is a serious injury or need for surgery. 

Three types of VWD:

Type 1: Lower than normal levels of VWF and generally mild symptoms.

Type 2: Moderate symptoms due to a defect in the VWF structure that causes it to not work properly.

Type 3: Little or no VWF is present, causing severe symptoms, including bleeding into muscles and joints. Sometimes without injury. 

Symptoms of VWD:

Many people with VWD have few or no symptoms. When symptoms do occur, they are more prominent in women than in men.

Symptoms of VWD include the following:

  • Bruising easily
  • Frequent or prolonged nosebleeds
  • Bleeding from gums
  • Prolonged bleeding from minor cuts
  • Heavy or prolonged menstrual bleeding
  • Bleeding in the upper and lower gastrointestinal tract 
  • Prolonged bleeding following injury surgery or dental work.
  • Prolonged bleeding in women following childbirth.

Diagnosis of VWD

VWD is not easy to diagnose and often requires the assistance of a hematologist who specializes in bleeding disorders. 

Tools used to diagnose VWD include the following:

  • Personal and family histories
  • Physical exams
  • Blood tests measure a person’s VWF level activity as well as the amount of clotting factor eight in their blood.

Treatment of VWD

The primary treatment for VWD is a man-made hormone called desmopressin. Desmopressin is administered through an injection or nasal spray. Desmopressin causes the body to release more VWF into the bloodstream and is effective for people with VWD types 1 and 2. Replacement therapy is used for those who can’t take or don’t respond to desmopressin, or who have VWD type 2 or 3. During replacement therapy, the individual receives concentrated VWF through injection or intravenous drip. 

Other treatments of VWD include the following:

  • Antifibrinolytic medicines
  • Fibrin glue
  • Birth control pills or devices
  • Endometrial ablation or hysterectomy (for women having children).

What is Thrombosis?

Thrombosis is the presence of a blood clot in a blood vessel. This can cause serious complications or death if untreated. Thrombosis can be caused by a genetic predisposition, genetic defect, or other factors, including the following:

  • Surgery
  • Hormonal contraceptives
  • Pregnancy 
  • Long periods of inactivity or mobility
  • A medical condition (like cancer or inflammatory bowel disease)
  • Obesity
  • Old age
  • Inherited clotting disorder

There are many types of thrombosis. Commonly seen types of thrombosis include deep vein thrombosis and pulmonary embolism.

What is Deep Vein Thrombosis (DVT)?

DVT occurs when a blood clot forms in a deep vein. DVT usually develops in the lower leg, thigh, or pelvis. If the blood clot breaks loose, it could travel through the bloodstream to the lungs, causing a pulmonary embolism. A pulmonary embolism (PE) is a clot from your leg that travels to your long and stays there. 

Symptoms of DVT include the following:

  • Swelling
  • Pain
  • Tenderness
  • Redness of the skin

Diagnosis of Deep Vein Thrombosis 

Deep vein Thrombosis is diagnosed using the following  diagnostic testing:

  • Duplex ultrasound
  • Venography
  • D-dimer
  • Magnetic Resonance Imaging (MRI)
  • Computerized tomography (CT) scan

Treatment of DVT

Treatment of DVT involves medication. Compression stockings are sometimes recommended to prevent DVT and relieve pain and swelling. In severe cases, the clot is removed surgically. 

Pulmonary Embolism (PE)

PE occurs when a blood clot in the vein breaks loose and travels into the lungs where it obstructs the blood vessels and reduces or prevents blood flow to the lungs. This can cause heart failure or sudden death. 

Symptoms of a Pulmonary Embolism:

  • Difficulty breathing
  • Faster than a normal or irregular heartbeat.
  • Chest pain or discomfort that worsens with a deep breath or coughing.
  • Anxiety 
  • Coughing up blood
  • Very low blood pressure, lightheadedness, or fainting

Diagnosis of a Pulmonary Embolism:

Pulmonary embolism is diagnosed using  the following diagnostic testing:

Computerized tomography (CT) scan

Pulmonary ventilation or perfusion scan

Pulmonary angiogram

Treatment of PE

PE requires immediate medical attention for treatment. Thrombolytic medications are used to dissolve a clot in life-threatening situations. Blood thinning medications may be prescribed to prevent future clot formation. 

Unsure of your health insurance options? Contact Bell & Associates Consulting Firm today for assistance.

References

Understanding Bleeding Disorders – Penn Medicine

Blood | Definition, Composition, & Functions | Britannica

Hemorrhage: Causes, Emergency Symptoms, First Aid & More (healthline.com)

Pulmonary Embolism (PE): Symptoms, Signs & Treatment (clevelandclinic.org)

Artery vs. Vein: What’s the Difference? (healthline.com)

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