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SECTION G: HEMATOLOGICAL

HEMOPHILIA

CONDITION/DISORDER SYNONYMS

  • Christmas disease

  • Classic hemophilia

  • Coagulation defects

  • Disorders of blood coagulation

  • Hemophilia A

  • Hemophilia B

  • von Willebrand disease

ICD-9-CM CODES1

  • 286.0 Congenital factor VIII disorder

  • 286.1 Congenital factor IX disorder

  • 286.2 Congenital factor XI deficiency

  • 286.3 Congenital deficiency of other clotting factors

  • 286.4 von Willebrand disease

ICD-10-CM CODES2

  • D66 Hereditary factor VIII deficiency

  • D67 Hereditary factor IX deficiency

  • D68.0 von Willebrand disease

  • D68.1 Hereditary factor XI deficiency

  • D86.2 Hereditary deficiency of other clotting factors

PREFERRED PRACTICE PATTERN3

  • 4D: Impaired Joint Mobility, Motor Function, Muscle Performance, and Range of Motion Associated with Connective Tissue Dysfunction

PATIENT PRESENTATION

A 12-year-old male presents with right knee pain and swelling after being tackled with a planted right leg during a youth league football game. Family history is significant for a bleeding disorder in his paternal uncle. Vitals are Temperature: 98.4°F, Pulse: 87, Respirations: 20, Blood Pressure: 110/72, and SpO2% of 98%. Physical examination of the right knee demonstrates swelling, tenderness along the medial joint line, pain with valgus deviation. Lab tests show a prolonged partial prothrombin time, normal prothrombin time, normal bleeding time, and decreased factor VIII.

FIGURE 45-1

Structure and inheritance of the factor VIII molecule. The function, the result of deficiency, and the method of testing of the various components are also shown. (From Chandrasoma P, Taylor CR. Concise Pathology, 3rd ed. http://www.accessmedicine.com. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

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KEY FEATURES

Description

  • Disorders involving slower than normal blood clotting that occurs spontaneously or as an excessive response to injury leading to bleeding into joints (termed hemarthrosis) or tissues

Essentials of Diagnosis

  • Factor VIII deficiency is the most common clotting deficiency

  • Severity of hemophilia, plasma level of factor VIII or IX

    • Mild: More than 5%

    • Moderate: Between 1% and 5%

    • Severe: Less than 1%

FIGURE 45-2

Tests used clinically to detect abnormalities in the blood coagulation and fibrinolytic systems. PTT, partial thromboplastin time. (From Chandrasoma P, Taylor CR. Concise Pathology, 3rd ed. http://www.accessmedicine.com. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

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FIGURE 45-3

Evaluation of bleeding patient. Screening tests assess the degree of hemorrhage and the adequacy of hemostasis in a bleeding patient. (Used with permission from Kulkarni R, Gera R, Scott-Emuakpor AB. Adolescent hematology. In: Greydanus DE, Patel DR, Pratt HD, eds. Essential Adolescent Medicine. New York, NY: McGraw Hill; 2006:371–390.)

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General Considerations

  • Genetic ...

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