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Hemophilia
A. Carlson Merrow, Jr., MD, FAAP
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Hemophilia A: Factor VIII deficiency
            • Hemophilia B: Factor IX deficiency, Christmas disease
            • Hemophilia C: Factor XI deficiency, Rosenthal disease
          • Definitions

            • Hemophilia: X-linked recessive bleeding disorder due to clotting factor deficiencies
            • Hemophilic arthropathy: Spontaneous bleeding into joint → inflamed & friable synovium → recurrent bleeding → pain & loss of function with accelerated joint degeneration
              • Target joint: Any joint in which ≥ 3 spontaneous bleeds occur in 6-month period
                • Often progress to arthropathy
              • Index joint: Knee, elbow, ankle
            • Hemophilic pseudotumor: Nonneoplastic mass from focally recurrent intraosseous, subperiosteal, or soft tissue bleeds

          IMAGING

          • General Features

            • Radiographic Findings

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Doyle AJ et al: Characteristics and management of the haemophilia-associated pseudotumours. Haemophilia. 26(1):33-40, 2020
                                2. Buccheri E et al: Haemophilic arthropathy: a narrative review on the use of intra-articular drugs for arthritis. Haemophilia. 25(6):919-27, 2019
                                3. De la Corte-Rodriguez H et al: Accelerating recovery from acute hemarthrosis in patients with hemophilia: the role of joint aspiration. Blood Coagul Fibrinolysis. 30(3):111-9, 2019
                                4. Kizilocak H et al: Diagnosis and treatment of hemophilia. Clin Adv Hematol Oncol. 17(6):344-51, 2019
                                5. Rodríguez-Merchán EC: The role of orthopaedic surgery in haemophilia: current rationale, indications and results. EFORT Open Rev. 4(5):165-73, 2019
                                6. Weyand AC et al: New therapies for hemophilia. Blood. 133(5):389-98, 2019
                                7. Young G: How I treat children with haemophilia and inhibitors. Br J Haematol. 186(3):400-8, 2019
                                8. Zanon E et al: Intracranial haemorrhage in children and adults with haemophilia A and B: a literature review of the last 20 years. Blood Transfus. 17(5):378-84, 2019
                                9. Ligocki CC et al: A systematic review of ultrasound imaging as a tool for evaluating haemophilic arthropathy in children and adults. Haemophilia. 23(4):598-612, 2017
                                10. Soliman M et al: Imaging of haemophilic arthropathy in growing joints: pitfalls in ultrasound and MRI. Haemophilia. 23(5):660-72, 2017
                                11. Wyseure T et al: Advances and challenges in hemophilic arthropathy. Semin Hematol. 53(1):10-9, 2016
                                12. Dale TM et al: Hemophilic arthropathy of the elbow: prophylaxis, imaging, and the role of invasive management. J Shoulder Elbow Surg. 24(10):1669-78, 2015
                                13. Doria AS et al: Diagnostic accuracy of ultrasound for assessment of hemophilic arthropathy: MRI correlation. AJR Am J Roentgenol. 204(3):W336-47, 2015
                                14. Keshava SN et al: Imaging evaluation of hemophilia: musculoskeletal approach. Semin Thromb Hemost. 41(8):880-93, 2015
                                15. Rodriguez-Merchan EC: Hemophilic synovitis of the knee: radiosynovectomy or arthroscopic synovectomy? Expert Rev Hematol. 7(4):507-11, 2014
                                16. Chen YC et al: Hemophilic arthropathy of shoulder joints: clinical, radiographic, and ultrasonographic characteristics of seventy patients. J Bone Joint Surg Am. 95(7):e43, 2013
                                17. Cross S et al: Hemophilic arthropathy: a review of imaging and staging. Semin Ultrasound CT MR. 34(6):516-24, 2013
                                18. Jaganathan S et al: Musculoskeletal manifestations of hemophilia: imaging features. Curr Probl Diagn Radiol. 40(5):191-7, 2011
                                19. Kim HK et al: MR findings of synovial disease in children and young adults: Part 1. Pediatr Radiol. 41(4):495-511; quiz 545-6, 2011
                                20. Geyskens W et al: MR imaging of intra-osseous hemophilic pseudotumor: case report and review ofthe literature. JBR-BTR. 87(6):289-93, 2004
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Synonyms

                                          • Hemophilia A: Factor VIII deficiency
                                          • Hemophilia B: Factor IX deficiency, Christmas disease
                                          • Hemophilia C: Factor XI deficiency, Rosenthal disease
                                        • Definitions

                                          • Hemophilia: X-linked recessive bleeding disorder due to clotting factor deficiencies
                                          • Hemophilic arthropathy: Spontaneous bleeding into joint → inflamed & friable synovium → recurrent bleeding → pain & loss of function with accelerated joint degeneration
                                            • Target joint: Any joint in which ≥ 3 spontaneous bleeds occur in 6-month period
                                              • Often progress to arthropathy
                                            • Index joint: Knee, elbow, ankle
                                          • Hemophilic pseudotumor: Nonneoplastic mass from focally recurrent intraosseous, subperiosteal, or soft tissue bleeds

                                        IMAGING

                                        • General Features

                                          • Radiographic Findings

                                            • Ultrasonographic Findings

                                              • MR Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Doyle AJ et al: Characteristics and management of the haemophilia-associated pseudotumours. Haemophilia. 26(1):33-40, 2020
                                                              2. Buccheri E et al: Haemophilic arthropathy: a narrative review on the use of intra-articular drugs for arthritis. Haemophilia. 25(6):919-27, 2019
                                                              3. De la Corte-Rodriguez H et al: Accelerating recovery from acute hemarthrosis in patients with hemophilia: the role of joint aspiration. Blood Coagul Fibrinolysis. 30(3):111-9, 2019
                                                              4. Kizilocak H et al: Diagnosis and treatment of hemophilia. Clin Adv Hematol Oncol. 17(6):344-51, 2019
                                                              5. Rodríguez-Merchán EC: The role of orthopaedic surgery in haemophilia: current rationale, indications and results. EFORT Open Rev. 4(5):165-73, 2019
                                                              6. Weyand AC et al: New therapies for hemophilia. Blood. 133(5):389-98, 2019
                                                              7. Young G: How I treat children with haemophilia and inhibitors. Br J Haematol. 186(3):400-8, 2019
                                                              8. Zanon E et al: Intracranial haemorrhage in children and adults with haemophilia A and B: a literature review of the last 20 years. Blood Transfus. 17(5):378-84, 2019
                                                              9. Ligocki CC et al: A systematic review of ultrasound imaging as a tool for evaluating haemophilic arthropathy in children and adults. Haemophilia. 23(4):598-612, 2017
                                                              10. Soliman M et al: Imaging of haemophilic arthropathy in growing joints: pitfalls in ultrasound and MRI. Haemophilia. 23(5):660-72, 2017
                                                              11. Wyseure T et al: Advances and challenges in hemophilic arthropathy. Semin Hematol. 53(1):10-9, 2016
                                                              12. Dale TM et al: Hemophilic arthropathy of the elbow: prophylaxis, imaging, and the role of invasive management. J Shoulder Elbow Surg. 24(10):1669-78, 2015
                                                              13. Doria AS et al: Diagnostic accuracy of ultrasound for assessment of hemophilic arthropathy: MRI correlation. AJR Am J Roentgenol. 204(3):W336-47, 2015
                                                              14. Keshava SN et al: Imaging evaluation of hemophilia: musculoskeletal approach. Semin Thromb Hemost. 41(8):880-93, 2015
                                                              15. Rodriguez-Merchan EC: Hemophilic synovitis of the knee: radiosynovectomy or arthroscopic synovectomy? Expert Rev Hematol. 7(4):507-11, 2014
                                                              16. Chen YC et al: Hemophilic arthropathy of shoulder joints: clinical, radiographic, and ultrasonographic characteristics of seventy patients. J Bone Joint Surg Am. 95(7):e43, 2013
                                                              17. Cross S et al: Hemophilic arthropathy: a review of imaging and staging. Semin Ultrasound CT MR. 34(6):516-24, 2013
                                                              18. Jaganathan S et al: Musculoskeletal manifestations of hemophilia: imaging features. Curr Probl Diagn Radiol. 40(5):191-7, 2011
                                                              19. Kim HK et al: MR findings of synovial disease in children and young adults: Part 1. Pediatr Radiol. 41(4):495-511; quiz 545-6, 2011
                                                              20. Geyskens W et al: MR imaging of intra-osseous hemophilic pseudotumor: case report and review ofthe literature. JBR-BTR. 87(6):289-93, 2004