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
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
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.
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.)
Factor VIII deficiency is the most common clotting deficiency
Severity of hemophilia, plasma level of factor VIII or IX
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.)
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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