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Hemophilia
B.J. Manaster, MD, PhD, FACR; 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
          • Definitions

            • Hemophilia: X-linked recessive bleeding disorder due to clotting factor deficiencies
            • Target joint: Any joint in which several bleeds occur in 6 month period
              • Often progress to arthropathy
            • 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

                        • Staging, Grading, & Classification

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  Selected References

                                  1. Wyseure T et al: Advances and challenges in hemophilic arthropathy. Semin Hematol. 53(1):10-9, 2016
                                  2. 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
                                  3. Doria AS et al: Diagnostic accuracy of ultrasound for assessment of hemophilic arthropathy: MRI correlation. AJR Am J Roentgenol. 204(3):W336-47, 2015
                                  4. van Galen KP et al: Joint bleeds in von Willebrand disease patients have significant impact on quality of life and joint integrity: a cross-sectional study. Haemophilia. ePub, 2015
                                  5. Rodriguez-Merchan EC: Hemophilic synovitis of the knee: radiosynovectomy or arthroscopic synovectomy? Expert Rev Hematol. 7(4):507-11, 2014
                                  6. 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
                                  7. Cross S et al: Hemophilic arthropathy: a review of imaging and staging. Semin Ultrasound CT MR. 34(6):516-24, 2013
                                  8. van Galen KP et al: Hemophilic arthropathy in patients with von Willebrand disease. Blood Rev. 26(6):261-6, 2012
                                  9. Vanderhave KL et al: Musculoskeletal care of the hemophiliac patient. J Am Acad Orthop Surg. 20(9):553-63, 2012
                                  10. Jaganathan S et al: Musculoskeletal manifestations of hemophilia: imaging features. Curr Probl Diagn Radiol. 40(5):191-7, 2011
                                  11. 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
                                  12. 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
                                          • Definitions

                                            • Hemophilia: X-linked recessive bleeding disorder due to clotting factor deficiencies
                                            • Target joint: Any joint in which several bleeds occur in 6 month period
                                              • Often progress to arthropathy
                                            • 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

                                                        • Staging, Grading, & Classification

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  Selected References

                                                                  1. Wyseure T et al: Advances and challenges in hemophilic arthropathy. Semin Hematol. 53(1):10-9, 2016
                                                                  2. 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
                                                                  3. Doria AS et al: Diagnostic accuracy of ultrasound for assessment of hemophilic arthropathy: MRI correlation. AJR Am J Roentgenol. 204(3):W336-47, 2015
                                                                  4. van Galen KP et al: Joint bleeds in von Willebrand disease patients have significant impact on quality of life and joint integrity: a cross-sectional study. Haemophilia. ePub, 2015
                                                                  5. Rodriguez-Merchan EC: Hemophilic synovitis of the knee: radiosynovectomy or arthroscopic synovectomy? Expert Rev Hematol. 7(4):507-11, 2014
                                                                  6. 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
                                                                  7. Cross S et al: Hemophilic arthropathy: a review of imaging and staging. Semin Ultrasound CT MR. 34(6):516-24, 2013
                                                                  8. van Galen KP et al: Hemophilic arthropathy in patients with von Willebrand disease. Blood Rev. 26(6):261-6, 2012
                                                                  9. Vanderhave KL et al: Musculoskeletal care of the hemophiliac patient. J Am Acad Orthop Surg. 20(9):553-63, 2012
                                                                  10. Jaganathan S et al: Musculoskeletal manifestations of hemophilia: imaging features. Curr Probl Diagn Radiol. 40(5):191-7, 2011
                                                                  11. 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
                                                                  12. Geyskens W et al: MR imaging of intra-osseous hemophilic pseudotumor: case report and review ofthe literature. JBR-BTR. 87(6):289-93, 2004