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Hemophilia
Donna G. Blankenbaker, MD, FACR; B. J. Manaster, MD, PhD, FACR
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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)
            • Hemophilic arthropathy: recurrent hemarthroses leading to specific changes in synovium and cartilage
          • Definitions

            • X-linked recessive bleeding disorder resulting from clotting factor deficiencies
            • Pseudotumor of hemophilia: nonneoplastic mass lesion that occurs with repeated focal intraosseous, subperiosteal, or soft tissue bleeding

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      Selected References

                                      1. Gooding R et al: Asymptomatic joint bleeding and joint health in hemophilia: a review of variables, methods, and biomarkers. J Blood Med. 12:209-20, 2021
                                      2. Foppen W et al: MRI predicts 5-year joint bleeding and development of arthropathy on radiographs in hemophilia. Blood Adv. 4(1):113-21, 2020
                                      3. Hotta M et al: Fluorodeoxyglucose PET/CT of arthritis in rheumatic diseases: a pictorial review. Radiographics. 40(1):223-40, 2020
                                      4. Pasta G et al: The progression of hemophilic arthropathy: the role of biomarkers. Int J Mol Sci. 21(19), 2020
                                      5. Rodriguez-Merchan EC: HemophiliC pseudotumors: diagnosis and management. Arch Bone Jt Surg. 8(2):121-30, 2020
                                      6. Zhang T et al: Clinical outcomes of arthroscopic synovectomy for adolescent or young adult patients with advanced haemophilic arthropathy. Exp Ther Med. 16(5):3883-8, 2018
                                      7. de Almeida AM et al: Arthroscopic partial anterior synovectomy of the knee on patients with haemophilia. Knee Surg Sports Traumatol Arthrosc. 23(3):785-91, 2015
                                      8. Huang SY et al: A study of 65 patients with acquired hemophilia A in Taiwan. J Formos Med Assoc. 114(4):321-7, 2015
                                      9. Mingot-Castellano ME et al: Adult severe haemophilia A patients under long-term prophylaxis with factor VIII in routine clinical practice. Blood Coagul Fibrinolysis. (5):509-14, 2015
                                      10. Rodriguez-Merchan EC et al: Safety of radiation exposure after radiosynovectomy in paediatric patients with haemophilia. Haemophilia. 21(4):411-8, 2015
                                      11. Timmer MA et al: Differentiating between signs of intra-articular joint bleeding and chronic arthropathy in haemophilia: a narrative review of the literature. Haemophilia. 1(3):289-96, 2015
                                      12. 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. 21(3):e185-92, 2015
                                      13. van Vulpen LF et al: The detrimental effects of iron on the joint: a comparison between haemochromatosis and haemophilia. J Clin Pathol. 68(8):592-600, 2015
                                      14. Maclachlan J et al: Haemophilia imaging: a review. Skeletal Radiol. 38(10):949-57, 2009
                                      15. Hatzipantelis ES et al: Tibial pseudotumor in a child with hemophilia. Pediatr Hematol Oncol. 24(8):623-30, 2007
                                      16. Lewis TR et al: Hemophilic pseudotumor. J Okla State Med Assoc. 98(10):485-7, 2005
                                      17. Ng WH et al: Role of imaging in management of hemophilic patients. AJR Am J Roentgenol. 184(5):1619-23, 2005
                                      18. Geyskens W et al: MR imaging of intra-osseous hemophilic pseudotumor: case report and review ofthe literature. JBR-BTR. 87(6):289-93, 2004
                                      19. Park JS et al: Hemophilic pseudotumor involving the musculoskeletal system: spectrum of radiologic findings. AJR Am J Roentgenol. 183(1):55-61, 2004
                                      20. Kerr R: Imaging of musculoskeletal complications of hemophilia. Semin Musculoskelet Radiol. 7(2):127-36, 2003
                                      21. Kilcoyne RF et al: Radiological evaluation of hemophilic arthropathy. Semin Thromb Hemost. 29(1):43-8, 2003
                                      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)
                                                • Hemophilic arthropathy: recurrent hemarthroses leading to specific changes in synovium and cartilage
                                              • Definitions

                                                • X-linked recessive bleeding disorder resulting from clotting factor deficiencies
                                                • Pseudotumor of hemophilia: nonneoplastic mass lesion that occurs with repeated focal intraosseous, subperiosteal, or soft tissue bleeding

                                              IMAGING

                                              • General Features

                                                • Radiographic Findings

                                                  • CT Findings

                                                    • MR Findings

                                                      • Ultrasonographic Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Gross Pathologic & Surgical Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          Selected References

                                                                          1. Gooding R et al: Asymptomatic joint bleeding and joint health in hemophilia: a review of variables, methods, and biomarkers. J Blood Med. 12:209-20, 2021
                                                                          2. Foppen W et al: MRI predicts 5-year joint bleeding and development of arthropathy on radiographs in hemophilia. Blood Adv. 4(1):113-21, 2020
                                                                          3. Hotta M et al: Fluorodeoxyglucose PET/CT of arthritis in rheumatic diseases: a pictorial review. Radiographics. 40(1):223-40, 2020
                                                                          4. Pasta G et al: The progression of hemophilic arthropathy: the role of biomarkers. Int J Mol Sci. 21(19), 2020
                                                                          5. Rodriguez-Merchan EC: HemophiliC pseudotumors: diagnosis and management. Arch Bone Jt Surg. 8(2):121-30, 2020
                                                                          6. Zhang T et al: Clinical outcomes of arthroscopic synovectomy for adolescent or young adult patients with advanced haemophilic arthropathy. Exp Ther Med. 16(5):3883-8, 2018
                                                                          7. de Almeida AM et al: Arthroscopic partial anterior synovectomy of the knee on patients with haemophilia. Knee Surg Sports Traumatol Arthrosc. 23(3):785-91, 2015
                                                                          8. Huang SY et al: A study of 65 patients with acquired hemophilia A in Taiwan. J Formos Med Assoc. 114(4):321-7, 2015
                                                                          9. Mingot-Castellano ME et al: Adult severe haemophilia A patients under long-term prophylaxis with factor VIII in routine clinical practice. Blood Coagul Fibrinolysis. (5):509-14, 2015
                                                                          10. Rodriguez-Merchan EC et al: Safety of radiation exposure after radiosynovectomy in paediatric patients with haemophilia. Haemophilia. 21(4):411-8, 2015
                                                                          11. Timmer MA et al: Differentiating between signs of intra-articular joint bleeding and chronic arthropathy in haemophilia: a narrative review of the literature. Haemophilia. 1(3):289-96, 2015
                                                                          12. 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. 21(3):e185-92, 2015
                                                                          13. van Vulpen LF et al: The detrimental effects of iron on the joint: a comparison between haemochromatosis and haemophilia. J Clin Pathol. 68(8):592-600, 2015
                                                                          14. Maclachlan J et al: Haemophilia imaging: a review. Skeletal Radiol. 38(10):949-57, 2009
                                                                          15. Hatzipantelis ES et al: Tibial pseudotumor in a child with hemophilia. Pediatr Hematol Oncol. 24(8):623-30, 2007
                                                                          16. Lewis TR et al: Hemophilic pseudotumor. J Okla State Med Assoc. 98(10):485-7, 2005
                                                                          17. Ng WH et al: Role of imaging in management of hemophilic patients. AJR Am J Roentgenol. 184(5):1619-23, 2005
                                                                          18. Geyskens W et al: MR imaging of intra-osseous hemophilic pseudotumor: case report and review ofthe literature. JBR-BTR. 87(6):289-93, 2004
                                                                          19. Park JS et al: Hemophilic pseudotumor involving the musculoskeletal system: spectrum of radiologic findings. AJR Am J Roentgenol. 183(1):55-61, 2004
                                                                          20. Kerr R: Imaging of musculoskeletal complications of hemophilia. Semin Musculoskelet Radiol. 7(2):127-36, 2003
                                                                          21. Kilcoyne RF et al: Radiological evaluation of hemophilic arthropathy. Semin Thromb Hemost. 29(1):43-8, 2003