Hemophilia
A hereditary bleeding disorder, hemophilia results from the deficiency of specific clotting factors. Hemophilia A (classic hemophilia), which affects more than 80% of all hemophiliacs, results from a deficiency of factor VIII; hemophilia B (Christmas disease), which affects 15% of hemophiliacs, results from a deficiency of factor IX.
The severity and prognosis of bleeding disorders vary with the degree of deficiency and the site of bleeding. The overall prognosis is best in mild hemophilia, which doesn’t cause spontaneous bleeding and joint deformities.
Advances in treatment have greatly improved the prognosis, and many hemophiliacs live normal life spans. Surgical procedures can be done safely at special treatment centers for hemophiliacs under the guidance of a hematologist.
Causes
Hemophilia is caused by a deficiency of clotting factors that are genetically transmitted. (See X factor.)
Incidence
Hemophilia is the most common X-linked genetic disease, occurring in about 1.25 in 10,000 live male births. Hemophilia A is five times more common than hemophilia B. Hemophilia causes abnormal bleeding because of a specific clotting factor malfunction. After a person with hemophilia forms a platelet plug at a bleeding site, clotting factor deficiency impairs the capacity to form a stable fibrin clot.
Signs and symptoms
Hemophilia produces abnormal bleeding, which may be mild, moderate, or severe, depending on the degree of factor deficiency.
Mild hemophilia
The mild form of hemophilia frequently goes undiagnosed until adulthood because the patient with a mild deficiency doesn’t bleed spontaneously or after minor trauma but has prolonged bleeding if challenged by major trauma or surgery. Postoperative bleeding continues as a slow ooze or ceases and starts again up to 8 days after surgery.
Moderate and severe hemophilia
Moderate hemophilia causes symptoms similar to those of severe hemophilia but produces only occasional spontaneous bleeding episodes.
Severe hemophilia causes spontaneous bleeding. The first sign of severe hemophilia is usually excessive bleeding after circumcision. Later, spontaneous bleeding or severe bleeding after minor trauma may produce large subcutaneous and deep intramuscular hematomas.
Bleeding into joints and muscles causes pain, swelling, extreme tenderness and, possibly, permanent deformity. Bleeding near peripheral nerves may cause peripheral neuropathies, pain, paresthesia, and muscle atrophy.
If bleeding impairs blood flow through a major vessel, it can cause ischemia and gangrene. Pharyngeal, lingual, intracardial, intracerebral, and intracranial bleeding may lead to shock and death.
Diagnosis
A history of prolonged bleeding after trauma or surgery (including dental extractions) or of episodes of spontaneous bleeding into muscles or joints usually indicates some defect in the hemostatic mechanism.
Specific coagulation factor assays can diagnose the type and severity of hemophilia. A positive family history can also help diagnose hemophilia, but 20% of all cases have no family history.
Characteristic findings in hemophilia A include:
❑ factor VIII assay 0% to 30% of normal
❑ prolonged partial thromboplastin time (PTT)
❑ normal platelet count and function, bleeding time, and prothrombin time.
Characteristics of hemophilia B include:
❑ deficient factor IX-C
❑ baseline coagulation results similar to those in hemophilia A, with normal factor VIII.
In hemophilia A or hemophilia B, the degree of factor deficiency determines severity:
❑ mild hemophilia — factor levels 5% to 40% of normal
❑ moderate hemophilia — factor levels 1% to 5% of normal
❑ severe hemophilia — factor levels less than 1% of normal.
Treatment
Hemophilia isn’t curable, but treatment can prevent crippling deformities and prolong life expectancy. Correct treatment quickly stops bleeding by increasing plasma levels of deficient clotting factors to help prevent disabling deformities that result from repeated bleeding into muscles and joints. Treatment varies according to the type of hemophilia. Gene therapy has shown promise for both types.
❑ In hemophilia A, cryoprecipitated antihemophilic factor (AHF), lyophilized AHF, or both, given in doses large enough to raise clotting factor levels above 25% of normal can permit normal hemostasis. Before surgery, AHF is administered to raise clotting factors to hemostatic levels. Levels are then kept within a normal range until the wound has completely healed.
❑ In hemophilia B, administration of factor IX concentrate during bleeding episodes increases factor IX levels.
A person with hemophilia who undergoes surgery needs careful management by a hematologist with expertise in hemophilia care. The patient requires replacement of the deficient factor before and after surgery. Such replacement may be necessary even for minor surgery such as a dental extraction.
In addition, aminocaproic acid is commonly used for oral bleeding to inhibit the active fibrinolytic system present in the oral mucosa. Preventive treatment teaches the patient how to avoid trauma, manage minor bleeding, and recognize bleeding that requires immediate medical intervention. (See Managing hemophilia.)
Special considerations
During bleeding episodes:
❑ Give deficient clotting factor or plasma, as needed. The body uses up AHF in 48 to 72 hours, so repeat infusions, as needed, until bleeding stops.
❑ Apply cold compresses or ice bags, and raise the injured part.
❑ To prevent recurrence of bleeding, restrict activity for 48 hours after bleeding is under control.
❑ Control pain with an analgesic, such as acetaminophen, propoxyphene, codeine, or meperidine, as needed. Avoid I.M. injections because of possible hematoma formation at the injection site. Aspirin and aspirin-containing medications are contraindicated because they decrease platelet adherence and may increase the bleeding.
If the patient has bled into a joint:
❑ Immediately elevate the joint.
❑ To restore joint mobility, begin range-of-motion exercises at least 48 hours after the bleeding is controlled. Tell the patient to avoid weight bearing until the bleeding stops and swelling subsides.
After bleeding episodes and surgery:
❑ Watch closely for signs of further bleeding, such as increased pain and swelling, fever, and shock.
❑ Closely monitor PTT.
❑ Teach parents special precautions to prevent bleeding episodes, signs of internal bleeding, and how to administer emergency first aid.
❑ Refer new patients to a hemophilia treatment center for evaluation. The center will devise a treatment plan for the patient’s primary physician and serve as a resource for everyone involved in the patient’s care.
Clinical tip Referral to a local or national acquired immu-nodeficiency syndrome support group may be helpful for patients who test positive for human immunodeficiency virus.
❑ Refer the patient and family for genetic counseling to understand how the disease is inherited, and discuss prenatal testing.
Pictures
Book Source Details
- Book Title: Handbook of Diseases
- Author(s): Springhouse
- Year of Publication: 2003
- Copyright Details: Handbook of Diseases, Copyright © 2003 Lippincott Williams & Wilkins.
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Copyright Details: Handbook of Diseases, Copyright © 2008 Williams & Wilkins.
More About Causes of Clotting symptoms
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More About This Book:
Title: Handbook of Diseases
Authors: Springhouse
Publisher: Lippincott Williams & Wilkins
Copyright: 2003
ISBN: 1-58255-266-5
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» Next page: Thrombocytopenia (Handbook of Diseases)
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