Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content ++ Hemophilia AClassic hemophiliaHemophilia BChristmas diseaseCoagulation defectsDisorders of blood coagulation ++ 286.0 Congenital factor VIII disorder286.1 Congenital factor IX disorder286.2 Congenital factor XI deficiency286.3 Congenital deficiency of other clotting factors286.4 Von Willebrand’s disease ++ D66 Hereditary factor VIII deficiencyD67 Hereditary factor IX deficiencyD68.0 Von Willebrand’s diseaseD68.1 Hereditary factor XI deficiencyD68.2 Hereditary deficiency of other clotting factors ++ Pattern 4D: Impaired joint mobility, motor function, muscle performance, and range of motion associated with connective tissue dysfunction +++ Description ++ Disorders involving slower than normal blood clotting that occurs spontaneously or as an excessive response to injury, leading to bleeding into joints (hemarthrosis) or tissues +++ Essentials of Diagnosis ++ Factor VIII deficiency is the most common clotting deficiencySeverity of hemophilia, plasma level of factor VIII or IXMild: more than 5%Moderate: between 1% and 5%Severe: less than 1% +++ General Considerations ++ Genetic factor deficiencies occur almost exclusively in males with females as asymptomatic carriersHemophilia classified as mild (asymptomatic), moderate (excessive bleeding after minor injury,) or severeBleeding into joint results in fibrosisVon Willebrand’s disease results in bleeding into skin or mucous membranes rather than joints or muscles +++ Demographics ++ InheritedFactor VIII deficiency occurs in 1 of every 5,000-10,000 malesFactor IX deficiency occurs in 1 of every 50,000 people2Von Willebrand’s disease most common bleeding disorder in Caucasians4Von Willebrand’s disease seen in both males and females7 +++ Signs and Symptoms ++ PainErythemaEdemaBruises easilyBleeding into joints or muscles without history of injuryExcessive bleeding that results from injury +++ Functional Implications ++ Joint contracturesHematoma of muscles can cause compartment syndrome3 +++ Possible Contributing Causes ++ Genetic x-linked recessive (such as factor VIII, or IX deficiencies) or autosomal dominant disorder (such as Von Willebrand’s disease)Multiple episodes of bleeding in same joint can cause hemophilic arthritis (hemarthropathy) 7 +++ Differential Diagnosis ++ Platelet disorder +++ Laboratory Tests ++ Platelet countClotting timeBleeding timeProthrombin timePartial thromboplastin timeThrombin timeDNA analysisFactor assaysFibrinogen test +++ Imaging ++ Standard radiograph for hemarthropathyMagnetic resonance imaging (MRI) or computerized axial tomography (CT scan) for head trauma or organ involvement ++ Factor VIII deficiency: prolonged partial thromboplastin time, normal prothrombin and bleeding timesVon Willebrand’s disease: prolonged partial thromboplastin and bleeding times, normal prothrombin time +++ Medications ++ Injection or infusion of blood concentrate of the deficient factorDesmopressin acetate for Von Willebrand’s ... Your Access profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free a profile for additional features.