Overview
What are the signs and symptoms of hemophilia A?
Which lab studies are performed in the evaluation of suspected hemophilia A?
Which lab values suggest hemophilia A?
What values for factor VIII (FVIII) assays indicate hemophilia A?
What is the role of imaging studies in the diagnosis of hemophilia A?
What is the role of inhibitors testing in the diagnosis of hemophilia A?
What is included in the treatment of hemophilia A?
Where is treatment for hemophilia A administered?
What are the treatment options for acute bleeds in hemophilia A?
What are the possible regimens for factor VIII (FVIII) dosing in hemophilia A?
What types of factor VIII (FVIII) are available for the treatment of hemophilia A?
What are the attributes of desmopressin vasopressin analog for the treatment of hemophilia A?
What is the role of antifibrinolytics in the treatment of hemophilia A?
Which treatments are used for hemophilia A in patients with inhibitors of factor VIII (FVIII)?
What causes morbidity and death in patients with hemophilia A?
Which lab studies are performed in the evaluation of suspected hemophilia A?
What are the treatment options for hemophilia A?
How is the severity of hemophilia A classified?
What is the historical background of hemophilia A?
What is the pathophysiology of factor VIII (FVIII) in hemophilia A?
What is the role of the von Willebrand factor (vWF) in the pathophysiology of hemophilia A?
What is the role of the coagulation system in the pathogenesis of hemophilia A?
What is the role of genetics in the pathophysiology of hemophilia A?
What is the role of factor VIII (FVIII) in the pathophysiology of hemophilia A?
What causes hemorrhage into joints in the pathophysiology of hemophilia A?
What is the role of alloantibody inhibitors in the pathogenesis of hemophilia A?
What causes inhibitor formation in patients with hemophilia A?
What are the methods used to measure levels of factor VIII (FVIII) inhibitors in hemophilia A?
What is the pathophysiology of acquired hemophilia A?
What is the role of factor VIII (FVIII) in the etiology of hemophilia A?
What is the role of genetics in the etiology of hemophilia A?
Which genetic mutations have a role in the etiology of hemophilia A?
What is the role of gene deletions in the etiology of hemophilia A?
What is the role of combined factor V (FV) and factor VIII (FVIII) in the etiology of hemophilia A?
What is the prevalence of hemophilia A?
What are the racial predilections of hemophilia A?
How does the presentation of hemophilia A differ in females?
In which age group is hemophilia A typically identified?
What is the prognosis of hemophilia A?
How have factor concentrates improved the prognosis of hemophilia A?
Which factors increase the risk of fractures in patients with hemophilia A?
How do viral infections affect the prognosis of hemophilia A?
What are the death rates of hemophilia A in the US?
Which infectious agents may be transmitted in factor concentrates to patients with hemophilia A?
What are possible life-threatening complications of hemophilia A?
What causes chronic debilitating joint disease in patients with hemophilia A?
What is the mortality rate for hemophilia A?
What is included in patient education for hemophilia A?
Presentation
What should be the focus of the history for suspected hemophilia A?
What are the signs and symptoms of hemorrhage in hemophilia A?
What is the evidence of infectious disease in hemophilia A?
Which clinical history is characteristic of severe hemophilia A?
Which clinical history is characteristic of mild or moderate hemophilia A?
What are the principal bleeding sites in patients with hemophilia A?
Which clinical history is characteristic of hemophilia A in the genitourinary tract?
Which clinical history is characteristic of acquired hemophilia A?
What are the systemic signs of hemorrhage in hemophilia A?
What are the physical findings characteristic of hemophilia A?
What are the signs of infectious disease in hemophilia A?
What is the manifestation of severe hemophilia A?
What are physical findings characteristic of hemophilia A after the immediate neonatal period of?
What are the physical findings characteristic of hemophilia A in growing children?
What is the manifestation of petechiae in hemophilia A?
How is hemophilia A classified?
What are pseudotumors in hemophilia A?
DDX
Which conditions should be included in the differential diagnosis of hemophilia A?
How is hemophilia A differentiated from hemophilia B?
What are the differential diagnoses for Hemophilia A (Factor VIII Deficiency)?
Workup
What is the role of lab studies in the workup of hemophilia A?
What is the role of imaging studies in the workup of hemophilia A?
How is the presence of factor VIII (FVIII) inhibitor confirmed in hemophilia A?
What tests are performed for hemophilia A carrier and fetal screening?
What is included in the prenatal testing of hemophilia A carriers?
What is the role of radiography in the workup of hemophilia A?
Treatment
What are the treatment options for hemophilia A?
How are dose calculations determined in the treatment of hemophilia A?
What is the role of prophylaxis in the management of hemophilia A?
What are the treatment options for hemophilia A and inhibitors of factor VIII (FVIII)?
How is synovitis due to hemophilia A joint bleeding treated?
How can fractures be prevented in hemophilia A?
What is included in prehospital care for hemophilia A?
What should be obtained before emergency department (ED) treatment is initiated for hemophilia A?
What is included in initial emergency department (ED) care for hemophilia A?
How is minor bleeding managed in hemophilia A?
How is epistaxis or moderately severe hematuria treated in hemophilia A?
How is acute joint bleeding and expanding hematuria treated in hemophilia A?
How are life-threatening bleeding episodes initially treated in patients with hemophilia A?
What are indications for admission to an intensive care unit for treatment of hemophilia A?
When should patients with hemophilia A be transferred for treatment to a hemophilia care center?
What is included in outpatient care for hemophilia A patients with minor hemorrhage?
What is included in outpatient care of hemophilia A patients with HIV seroconversion?
Which factor VIII (FVIII) concentrates are used for the treatment of hemophilia A?
What is the proper dosing of factor VIII (FVIII) concentrate for the treatment of hemophilia A?
What is the role of desmopressin vasopressin analog in the treatment of hemophilia A?
How is desmopressin vasopressin analog administered for the treatment of hemophilia A?
What are adverse effects of desmopressin vasopressin analog for hemophilia A?
What are the most common sites of clinically significant bleeding in hemophilia A?
How are musculoskeletal bleeding episodes managed in patients with hemophilia A?
How are oral bleeding episodes managed in patients with hemophilia A?
How are GI bleeding episodes managed in patients with hemophilia A?
How are intracranial bleeding episodes managed in patients with hemophilia A?
What is the primary treatment for hemophilia A with factor VIII (FVIII) inhibitors?
What are alternative treatment options for hemophilia A with factor VIII (FVIII) inhibitors?
What is the role of emicizumab in the treatment of hemophilia A?
What is the role of recombinant activated factor VIII (FVIII) the treatment of hemophilia A?
What is the role of desensitization in the treatment of hemophilia A?
How is immune tolerance induction (ITI) administered in the treatment of hemophilia A?
What is the role of rituximab in the treatment of hemophilia A?
What is the role of emicizumab in hemophilia A prophylaxis?
What are the benefits of prophylactic treatment for hemophilia A?
What is the main goal of prophylactic treatment of hemophilia A?
What is the prevalence of prophylactic treatment of hemophilia A?
What is the role of recombinant FVIII products in the treatment of hemophilia A?
How is adherence to prophylaxis for hemophilia A assessed?
How is pain managed in patients with hemophilia A?
What are potential complications of hemophilia A?
How should routine vaccinations be administered to children with hemophilia A?
How is repetitive bleeding and inflammation prevented in severe hemophilia A?
What is the role of carrier testing in the prevention of hemophilia A?
What is the role of preimplantation genetic diagnosis in the prevention of hemophilia A?
Which activity restrictions are indicated for patients with hemophilia A?
What is the role of gene therapy in the treatment of hemophilia A?
What is the efficacy of gene therapy for hemophilia A?
Which specialist consultations may be beneficial in the treatment of hemophilia A?
What is the role of radiosynovectomy in the treatment of hemophilia A?
Guidelines
What are the UK treatment guidelines for acute joint bleeds and chronic synovitis in hemophilia A?
Medications
Which medications are used in the treatment of hemophilia A?
Which medical adjuncts to factor VIII (FVIII) are used in the treatment of hemophilia A?
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Coagulation pathway.
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The hemostatic pathway. APC = activated protein C (APC); AT-III = antithrombin III; FDP = fibrin degradation products; HC-II = heparin cofactor II; HMWK = high-molecular-weight kininogen; PAI = plasminogen activator inhibitor; sc-uPA = single-chain urokinase plasminogen activator; tc-uPA = two-chain urokinase plasminogen activator; TFPI = tissue factor pathway inhibitor; tPA = tissue plasminogen activator
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Structural domains of human factor VIII. Adapted from: Stoilova-McPhie S, Villoutreix BO, Mertens K, Kemball-Cook G, Holzenburg A. 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography. Blood. Feb 15 2002;99(4):1215-23; Roberts HR, Hoffman M. Hemophilia A and B. In: Beutler E, Lichtman MA, Coller BS, et al, eds. Williams Hematology. 6th ed. NY: McGraw-Hill; 2001:1639-57; and Roberts HR. Thoughts on the mechanism of action of FVIIa. Presented at: Second Symposium on New Aspects of Haemophilia Treatment; 1991; Copenhagen, Denmark.
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Possible genetic outcomes in individuals carrying the hemophilic gene.
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Photograph of a teenage boy with bleeding into his right thigh as well as both knees and ankles.
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Photograph of the right knee in an older man with a chronically fused, extended knee following open drainage of knee bleeding that occurred many years previously.
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Photograph depicting severe bilateral hemophilic arthropathy and muscle wasting. The 3 punctures made into the left knee joint were performed in an attempt to aspirate recent aggravated bleeding.
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Radiograph depicting advanced hemophilic arthropathy of the knee joint. These images show chronic severe arthritis, fusion, loss of cartilage, and joint space deformities.
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Radiograph depicting advanced hemophilic arthropathy of the elbow. This image shows chronic severe arthritis, fusion, loss of cartilage, and joint space deformities.
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Photograph of a hemophilic knee at surgery, with synovial proliferation caused by repeated bleeding; synovectomy was required.
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Large amount of vascular synovium removed at surgery.
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Microscopic appearance of synovial proliferation and high vascularity. If stained with iron, diffuse deposits would be demonstrated; iron-laden macrophages are present.
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Large pseudocyst involving the left proximal femur.
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Transected pseudocyst (following disarticulation of the left lower extremity due to vascular compromise, nerve damage, loss of bone, and nonfunctional limb). This photo shows black-brown old blood, residual muscle, and bone.
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Dissection of a pseudocyst.
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Transected pseudocyst with chocolate brown-black old blood.
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Photograph of a patient who presented with a slowly expanding abdominal and flank mass, as well as increasing pain, inability to eat, weight loss, and weakness of his lower extremity.
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Plain radiograph of the pelvis showing a large lytic area.
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Intravenous pyelogram showing extreme displacement of the left kidney and ureter by a pseudocyst.
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Photograph depicting extensive spontaneous abdominal wall hematoma and thigh hemorrhage in an older, previously unaffected man with an acquired factor VIII inhibitor.
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Magnetic resonance image of an extensive spontaneous abdominal wall hematoma and thigh hemorrhage in an older, previously unaffected man with an acquired factor VIII inhibitor.
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Coagulation Cascade
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- Overview
- Presentation
- DDx
- Workup
- Treatment
- Approach Considerations
- Prehospital Care
- Emergency Department Care
- Factor VIII Concentrates
- Desmopressin
- Management of Bleeding Episodes by Site
- Treatment of Patients with Inhibitors
- Prophylactic Treatment
- Pain Management
- Complications
- Deterrence/Prevention
- Activity
- Gene Therapy
- Consultations
- Radiosynovectomy
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- Guidelines
- Medication
- Questions & Answers
- Media Gallery
- Tables
- References