eMedicine Specialties > Radiology > Musculoskeletal

Hemophilia, Musculoskeletal Complications: Follow-up

Author: Ray F Kilcoyne, MD, † Former Professor Emeritus, Department of Radiology, University of Colorado Health Sciences Center
Contributor Information and Disclosures

Updated: Mar 21, 2008

Intervention

Aggressive treatment of hemophilia with factor VIII or factor IX replacement, sometimes on a prophylactic basis, is the current standard of care for this condition. Early factor replacement may prevent the later joint destruction that is so commonly seen in patients with hemophilia, and studies remain ongoing. Educating patients about the use of ports for intravenous infusion makes home care prophylaxis possible. Recombinant clotting factors have also been used to treat affected patients,7 but these factor-replacement treatments are expensive. An ongoing concern is the development of patient antibodies to the factor replacement; this occurs in about 20% of cases.7 Plasma-free factor derivatives have eliminated the AIDS risk in transfusions.

MRI is used to detect early hemophilic disease and to help direct the appropriate therapy.

Radioactive injections into joints (radiosynoviorthesis) can control hemorrhage. This treatment was initially used in cases of JRA. Subsequently, radiosynoviorthesis was shown to be effective in reducing bleeding and effusion in selected cases of hemophilic arthropathy.

Surgical total joint replacement is a valuable treatment for end-stage hemophilic disease. Soft-tissue pseudocysts may be drained percutaneously (with adequate factor replacement during the procedure); imaging may aid in needle placement for this procedure.

Gene therapy offers an appealing alternative for preventing transmission of this inherited disease, and research is under way for gene therapy as a means of eliminating the hemophilia genes.

Medicolegal Pitfalls

  • AIDS was a devastating complication of transfusion treatment in the 1980s. Once the causal association between tainted transfusions and HIV was recognized, the prevalence of transfusion-related AIDS diminished drastically.
  • Surgical replacement of joints can lead to postoperative complications.
  • Radionuclide synovectomy has a good record for low complication rates; however, there remains concern that the radiation exposure in young children could lead to radiation necrosis or tumor induction.

Special Concerns

  • Many affected families recognize hemophilia as a condition that recurs regularly in their offspring, either as active disease or in the carrier state.
    • Making certain that such families have access to adequate medical care is a key public health concern.
    • Genetic counseling may be useful.
 


More on Hemophilia, Musculoskeletal Complications

Overview: Hemophilia, Musculoskeletal Complications
Imaging: Hemophilia, Musculoskeletal Complications
Follow-up: Hemophilia, Musculoskeletal Complications
Multimedia: Hemophilia, Musculoskeletal Complications
References
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References

  1. Aronova-Tiuntseva Y, Herreid CF. Hemophilia: "The Royal Disease". National Center for Case Study Teaching in Science. Available at http://ublib.buffalo.edu/libraries/projects/cases/hemo.htm. Accessed August 30, 2007.

  2. Resnick D. Diagnosis of Bone and Joint Disorders. 4th ed. Philadelphia, Pa: WB Saunders Co; 2002.

  3. Roosendaal G, Lafeber FP. Blood-induced joint damage in hemophilia. Semin Thromb Hemost. Feb 2003;29(1):37-42. [Medline].

  4. Nuss R, Kilcoyne RF. Diagnosis by imaging of haemophilic joints. In: Rodriguez-Merchan EC, ed. The Haemophilic Joints: New Perspectives. Malden, England: Blackwell Publishing; 2003:24-9.

  5. Pettersson H, Ahlberg A, Nilsson IM. A radiologic classification of hemophilic arthropathy. Clin Orthop Relat Res. Jun 1980;149:153-9. [Medline].

  6. Arnold WD, Hilgartner MW. Hemophilic arthropathy. Current concepts of pathogenesis and management. J Bone Joint Surg Am. Apr 1977;59(3):287-305. [Medline]. [Full Text].

  7. National Heart, Lung, and Blood Institute. Hemophilia. NHLBI Diseases and Conditions Index. Available at http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_all.html. Accessed August 30, 2007.

  8. Bernabeu-Taboada D, Martin-Hervas C. Sonography of haemophilic joints. In: Rodriguez-Merchan EC, ed. The Haemophilic Joints: New Perspectives. Malden, England: Blackwell Publishers; 2003:30-5.

  9. Nuss R, Kilcoyne RF, Geraghty S, et al. MRI findings in haemophilic joints treated with radiosynoviorthesis with development of an MRI scale of joint damage. Haemophilia. May 2000;6(3):162-9. [Medline].

  10. Doria AS, Babyn PS, Lundin B, et al, for the Expert MRI Working Group of the International Prophylaxis Study Group. Reliability and construct validity of the compatible MRI scoring system for evaluation of haemophilic knees and ankles of haemophilic children. Haemophilia. Sep 2006;12(5):503-13. [Medline].

  11. Jorge Filho D, Battistella LR, Lourenço C. Computerized pedobarography in the characterization of ankle-foot instabilities of haemophilic patients. Haemophilia. Mar 2006;12(2):140-6. [Medline].

  12. Kilcoyne RF, Lundin B, Pettersson H. Evolution of the imaging tests in hemophilia with emphasis on radiography and magnetic resonance imaging. Acta Radiol. Apr 2006;47(3):287-96. [Medline].

  13. Lundin B, Berntorp E, Pettersson H, et al. Gadolinium contrast agent is of limited value for magnetic resonance imaging assessment of synovial hypertrophy in hemophiliacs. Acta Radiol. Jun 2007;48(5):520-30. [Medline].

  14. Pergantou H, Matsinos G, Papadopoulos A, Platokouki H, Aronis S. Comparative study of validity of clinical, x-ray and magnetic resonance imaging scores in evaluation and management of haemophilic arthropathy in children. Haemophilia. May 2006;12(3):241-7. [Medline].

  15. Zukotynski K, Jarrin J, Babyn PS, et al. Sonography for assessment of haemophilic arthropathy in children: a systematic protocol. Haemophilia. May 2007;13(3):293-304. [Medline].

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Further Reading

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Keywords

hemophilic arthropathy, hemophilic soft-tissue bleeding, pseudotumor, hemophilia A, classic hemophilia, factor VIII deficiency, hemophilia B, Christmas disease, factor IX deficiency, bleeding disorder, Arnold-Hilgartner staging/classification, hemarthrosis

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Contributor Information and Disclosures

Author

Ray F Kilcoyne, MD, † Former Professor Emeritus, Department of Radiology, University of Colorado Health Sciences Center
Ray F Kilcoyne, MD is a member of the following medical societies: American College of Radiology, American Medical Association, American Roentgen Ray Society, Association of University Radiologists, International Skeletal Society, Radiological Society of North America, and Society of Skeletal Radiology
Disclosure: Nothing to disclose.

Medical Editor

Amilcare Gentili, MD, Professor of Clinical Radiology, University of California at San Diego; Consulting Staff, Department of Radiology, Thornton Hospital; Chief of Radiology, San Diego VA Health Care System
Amilcare Gentili, MD is a member of the following medical societies: American Roentgen Ray Society, Radiological Society of North America, and Society of Skeletal Radiology
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

Managing Editor

Javier Beltran, MD, Chair, Department of Radiology, Maimonides Medical Center
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Resolution Imaging Medical Corporation
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

Felix S Chew, MD, MBA, EdM, Professor, Department of Radiology, Vice Chairman for Radiology Informatics, Section Head of Musculoskeletal Radiology, University of Washington
Felix S Chew, MD, MBA, EdM is a member of the following medical societies: American Roentgen Ray Society, Association of University Radiologists, and Radiological Society of North America
Disclosure: Nothing to disclose.

 
 
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