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Hemophilia, Type B
Updated: Oct 6, 2008
Introduction
Background
Hemophilia B is an inherited, X-linked, recessive disorder resulting in deficiency of functional plasma coagulation factor IX. Spontaneous mutation and acquired immunologic processes can result in this disorder as well.
Morbidity and death are primarily the result of hemorrhage, although infectious diseases (eg, HIV, hepatitis) became prominent, particularly in patients who received blood products prior to 1985.
For related information, see Medscape's Hematology-Oncology Resource Center.
Pathophysiology
Factor IX deficiency, dysfunctional factor IX, or factor IX inhibitors lead to disruption of the normal intrinsic coagulation cascade, resulting in spontaneous hemorrhage and/or excessive hemorrhage in response to trauma.
Hemorrhage sites include joints (eg, knee, elbow), muscles, CNS, GI system, genitourinary (GU) system, pulmonary system, and cardiovascular system.
Patients who acquired HIV, hepatitis, or other viruses suffer from maladies associated with those infections.
Frequency
United States
Occurrence in males is estimated to be 1 per 25,000 males.
International
The prevalence of hemophilia B is 1 in 60,000 people.
Mortality/Morbidity
The death rate for those affected with hemophilia B is not reported. The life span approaches that of the healthy population, excluding individuals infected with HIV.- Severe disease, defined as less than 1% factor IX activity, accounts for 50% of those with hemophilia B.
- Moderate disease, defined as 1-5% factor IX activity, typically presents in children aged 1-2 years and accounts for 30% of those with hemophilia B.
- Mild disease is defined as levels greater than 5% factor IX activity and accounts for 20% of those with hemophilia B.
Race
Rates of hemophilia among whites, African Americans, and Hispanic males in the US are similar.
Sex
- Because hemophilia is an X-linked, recessive condition, it occurs primarily in males.
- Occasionally, cases are reported in females; however, females usually are asymptomatic carriers.
Age
The disease usually presents in infancy or childhood.
Clinical
History
Hemophilia is suggested by a history of hemorrhage disproportionate to trauma, spontaneous hemorrhage, or familial hemorrhage. Concomitant illness may include chronic inflammatory disorders, autoimmune diseases, hematologic malignancies (acquired form), and allergic drug reactions.
For individuals with documented hemophilia, inquire regarding the type of deficiency (eg, VIII, IX, von Willebrand), percent factor deficiency, known presence of inhibitors, and HIV/hepatitis status. For patients with mild-to-moderate hemophilia A, determine responsiveness to desmopressin acetate (DDAVP).
- Hemorrhage - In infants, bleeding may occur from blood sticks, immunizations, or circumcision. Children may exhibit bleeding with tooth loss, excessive bruising, or spontaneous hemorrhage. With mild disease, hemorrhage is most likely to occur with trauma or surgery.
- General - Weakness, orthostasis
- Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children)
- CNS - Headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes
- GI - Hematemesis, melena, frank red blood per rectum, and abdominal pain
- GU - Hematuria, renal colic, and postcircumcision bleeding
- Other - Epistaxis, oral mucosal hemorrhage, hemoptysis, dyspnea (hematoma leading to airway obstruction), compartment syndrome symptoms, and contusions
- Joint and muscle hemorrhage are the most common manifestations of moderate and severe hemophilia.
- Infectious disease
- HIV/AIDS-related symptoms
- Hepatitis-related symptoms
Physical
- General signs of hemorrhage - Tachycardia, tachypnea, hypotension, and orthostasis
- Organ system specific signs of hemorrhage
- Musculoskeletal (joints) - Tenderness, pain with movement, decreased range of motion, swelling, effusion, and warmth
- CNS - Abnormal neurologic exam findings, altered mental status, and meningismus
- GI - Can be painless, hepatic/splenic tenderness, and peritoneal signs
- GU - Bladder spasm/distension/pain, costovertebral angle pain
- Other - Hematoma leading to location-specific signs (eg, airway obstruction, compartment syndrome)
- Infectious disease
- HIV/AIDS-related signs
- Hepatitis-related signs
Causes
Hemophilia B is caused by an inherited or acquired genetic mutation or an acquired factor IX inhibitor.
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| Follow-up: Hemophilia, Type B |
| References |
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References
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Further Reading
Keywords
hemophilia type B, hemophilia type B, blood disorder, deficiency of factor IX, factor IX deficiency, dysfunctional factor IX, factor IX inhibitors, hemorrhage, bleeding, bleeding disorder, factor IX activity, plasma coagulation
