Haemophilia

 

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Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.

Top Contributors - Chelsea Reinhart, Alyssa Elliott, Tarina van der Stockt, Kim Jackson, Mandy Roscher, Robin Tacchetti, Elaine Lonnemann, WikiSysop, Lucinda hampton, Tony Lowe, Jess Bell, Aminat Abolade and Stacy Schiurring  

Definition/Description

Hemophilia is a congenital X-linked bleeding disorder in which blood does not properly clot. It is categorized as a disorder of hemostasis. Hemostasis, the stopping of bleeding after a blood vessel is injured, normally is divided into two separate processes—primary and secondary hemostasis. In hemophilia, secondary hemostasis (which essentially results in the formation of a fibrin clot) is defected. Thus, deficient clotting is due to an abnormality of the functional plasma-clotting proteins, factors VIII and IX, that are involved in this process.

There are two primary types of this disease—hemophilia A and hemophilia B. Hemophilia A (or classic hemophilia) affects approximately 80% of all cases. Hemophilia B (or Christmas disease) constitutes for approximately 15% of all cases. The difference between the two types is which clotting factor is deficient.

Injuries and surgeries can cause bleeding episodes in individuals with hemophilia. Most also experience episodes of spontaneous bleeding. In regards to bleeding, they do not bleed any faster than the average person, but they do bleed for a longer period of time.

Severity of the disease is determined by blood tests. These tests determine the percentage of clotting factor present in blood plasma; concentrations from 50%-150% is normal. The severity of hemophilia can be described as mild, moderate, and severe.

            -Mild hemophilia:
                       -25% of cases
                       -Spontaneous hemorrhages are rare
                       -Deep muscle and joint bleeding are uncommon
                       -Injury, trauma, surgery, and dental injury trigger bleeding
                            -these symptoms are addressed the same as with individuals with severe hemophilia
            -Moderate hemophilia:
                       -15% of cases
                       -Spontaneous hemorrhages are usually not an issue
                       -Minor trauma can result in major bleeding incidences
            -Severe hemophilia:
                       -60% of cases
                       -Spontaneous bleeding
                       -Slight trauma may precipitate bleeding into deep muscle and joints

The Diagnostic section on this page includes a table displaying severity and the levels of factor VIII or IX for each in the blood.

Prevalence

Hemophilia, the most common inherited blood clotting disorder associated with clotting factor deficiencies, affects 1 in 5,000 male births. It is estimated that approximately 20,000 males in the United States, and approximately 400,000 people in the world have hemophilia. All racial and ethnic groups are affected by this disease.

Characteristics/Clinical Presentation

Hemophilia A and hemophilia B both present in similar ways. Bleeding occurrences can first be noted in infants when being circumcised or when receiving heel sticks, immunizations, or blood draws. Other features to be noted include the formation of hematomas (or bruising). Hematomas can present in infants or children from receiving injections or while being held (such as from being lifted by the elbows or from under the armpits). Hematomas can result from excessive bruising due to minor trauma, delayed hemorrhage after minor injury, persistent bleeding after losing a tooth, or bleeding into joints and muscles. 

Clinical signs and symptoms of hemophilia can present in several different ways. The most common presentation of hemophilia is hemarthrosis, in which bleeding occurs inside joint spaces. The occurrence of joint bleeds increases as a baby begins to walk; these episodes can vary in severity, from swelling with mild pain to extremely swollen with severe pain. The joint most commonly affected is the knee “followed by the ankle, elbow, hip, shoulder, and wrist.”

Acute hemarthrosis symptoms include:
     • swelling
     • pain
     • heat around joint
     • tenderness
     • decreased motion
     • tingling, aura, or prickling sensation
     • stiffening into the position that is comfortable (usually flexion)
These signs and symptoms are very important for individuals with hemophilia to be aware of. When they present, steps should be taken to address the episode of acute bleeding.

If there are recurrent episodes of hemarthrosis, hemophiliac joint disease may develop. This disease can lead to further symptoms such as:
     • progressive decreased motion
     • flexion contractures
     • muscle atrophy

The second most common presentation of hemophilia is muscle hemorrhage, where bleeding occurs into muscles. A muscle hemorrhage can be massive and more insidious. They commonly occur in muscles that flex such as the gastrocnemius, iliopsoas, and the forearm flexor surface. The symptoms presenting with muscle hemorrhage can include:
     • gradually intensifying pain
     • loss of sensation
     • decreased motion at surrounding joints
     • muscle assuming comfortable position (usually shortened)
     • protective muscle spasms

Associated Co-morbidities

• HIV (more common prior to 1986 because purification techniques were not in place)
• AIDs
• Hepatitis A
• Hepatitis B
• Hepatitis C
• Parovirus B19
• Osteoporosis

Individuals with hemophilia are also at a higher risk for developing hypertension, heart disease, kidney disease, obesity, and sexual dysfunction compared to the general population.

Medications

Individuals with hemophilia may take pain medications “to control pain in acute bleeding and chronic arthropathies” (joint diseases). Common pain medications, including acetylsalicylic acid (ASA) and nonsteroidal anti-inflammatory drugs (NSAIDs), for instance ibuprofen and aspirin, cannot be used due to their platelet inhibiting function. In addition, any medication with derivatives of aspirin must be used cautiously (i.e. corticosteroids which may be used for chronic synovitis). Certain COX-2 inhibitors as well as acetaminophen are safe pain medication alternatives.

Diagnostic Tests/Lab Tests/Lab Values

In order to diagnose hemophilia, screening tests will be performed, as well as clotting factor tests (also called factor assays). The blood tests reveal the type and severity of hemophilia. If there is a family history of hemophilia, a mother can also request to have a blood test performed from the baby boy’s umbilical cord immediately after birth.

Screening Tests:

Complete Blood Count (CBC)

• This test measures the number and size of red blood cells, the amount of hemoglobin, and the platelet number in the blood. This value is      normal for people with hemophilia, but the red blood cell and hemoglobin counts can be low with bleeding for an extended period of time or when individuals have unusually heavy episodes of bleeding.

Activated Partial Thromboplastin Time (APTT) Test

• This test measures the time it takes for blood to clot while measuring the “clotting ability of factors VIII (8), IX (9), XI (11), and XII (12).” A person with hemophilia would display an increased blood clotting time in their results.

Prothrombin Time (PT) Test

• This test measures how long it takes for the blood to clot while primarily measuring the “clotting ability of factors I (1), II (2), V (5), VII (7), and X (10).” Results will typically be normal for individuals with hemophilia.

Fibrinogen Test

• This test allows physicians to assess their patient’s ability to form blood clots. This test is usually performed if a patient has abnormal APTT and/or PT test results, and may also be performed along with other clotting tests.

Clotting Factor Tests:
• These are required for a bleeding disorder to be diagnosed. This blood test reveals the type and severity of hemophilia.

Etiology/Causes

Blood clotting factors VIII and IX are found on the X chromosome making this an X-linked disorder, and thus making hemophilia rare in females. Since females carry two X-chromosomes, they only develop hemophilia when both chromosomes are affected. Males will always develop hemophilia when they carry an affected X-chromosome (since they only have one). Two-thirds of hemophilia cases have an evident familial history, however, one-third of cases result from spontaneous genetic mutation.

Systemic Involvement

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Medical Management (current best evidence)

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Physical Therapy Management (current best evidence)

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Differential Diagnosis

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Case Reports/ Case Studies

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Resources

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Recent Related Research (from Pubmed)

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References

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