eMedicine Specialties > Emergency Medicine > Hematology & Oncology

Hemophilia, Type A

Author: Brendan R Furlong, MD, Clinical Chief, Department of Emergency Medicine, Georgetown University Hospital
Coauthor(s): Mary A Furlong, MD, Associate Professor and Program/Residency Director, Department of Pathology, Georgetown University School of Medicine
Contributor Information and Disclosures

Updated: Oct 6, 2008

Introduction

Background

Hemophilia A is an inherited, X-linked, recessive disorder resulting in deficiency of functional plasma coagulation factor VIII. Significant rates of spontaneous mutation and acquired immunologic processes can result in this disorder as well.

Morbidity and death are primarily the result of hemorrhage, although infectious diseases (eg, HIV, hepatitis) became prominent, particularly in patients who received blood products prior to 1985.

For related information, see Medscape's Hematology-Oncology Resource Center.

Pathophysiology

Factor VIII deficiency, dysfunctional factor VIII, or factor VIII inhibitors lead to the disruption of the normal intrinsic coagulation cascade, resulting in spontaneous hemorrhage and/or excessive hemorrhage in response to trauma.

Hemorrhage sites include joints (eg, knee, elbow), muscles, CNS, GI system, genitourinary system, pulmonary system, and cardiovascular system. Intracranial hemorrhage is most common in patients younger than 18 years and can be a fatal event.

Patients who acquired HIV, hepatitis, or other viruses suffer from maladies associated with those infections.

Frequency

United States

An estimated 17,000 people were affected with hemophilia A in the United States in 2003.

Approximately 1 per 5,000-10,000 males are born with hemophilia A.

Mortality/Morbidity

The death rate for those affected with hemophilia A is not reported. The life span approaches that of the healthy population, excluding individuals infected with HIV.
  • Severe disease, defined as less than 1% factor VIII activity, presents in children younger than 1 year and accounts for 43-70% of those with hemophilia A.
  • Moderate disease, defined as 1-5% factor VIII activity, presents in children aged 1-2 years and accounts for 15-26% of those with hemophilia A.
  • Mild disease, defined as greater than 5% factor VIII activity, presents in children older than 2 years and accounts for 15-31% of those with hemophilia A.

Race

Hemophilia occurs in all races and ethnic groups. Rates of hemophilia among whites, African Americans, and Hispanic males in the US are similar.

Sex

  • Because hemophilia is an X-linked, recessive condition, it occurs predominantly in males.
  • Occasionally, cases are reported in females; however, females usually are asymptomatic carriers.

Age

Patients often present in infancy or childhood.

Clinical

History

For patients in whom hemophilia is suspected, ascertain the history of hemorrhage disproportionate to trauma, spontaneous hemorrhage, familial hemorrhage, concomitant illness (eg, chronic inflammatory disorders, autoimmune diseases, hematologic malignancies [acquired form], allergic drug reactions), and pregnancy.

For individuals with documented hemophilia, ascertain the type of deficiency (eg, VIII, IX, von Willebrand), percent factor deficiency, known presence of inhibitors, and HIV/hepatitis status. For patients with mild-to-moderate disease, determine responsiveness to desmopressin acetate (DDAVP).

  • Hemorrhage
    • General - Weakness and orthostasis
    • Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children)
    • CNS - Headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes
    • GI - Hematemesis, melena, frank red blood per rectum, and abdominal pain
    • Genitourinary - Hematuria, renal colic, and postcircumcision bleeding
    • Other - Epistaxis, oral mucosal hemorrhage, hemoptysis, dyspnea (hematoma leading to airway obstruction), compartment syndrome symptoms, and contusions; excessive bleeding with routine dental procedures
  • Infectious disease
    • HIV/AIDS-related symptoms
    • Hepatitis-related symptoms

Physical

  • General signs of hemorrhage
    • Tachycardia
    • Tachypnea
    • Hypotension
    • Orthostasis
  • Organ system–specific signs of hemorrhage
    • Musculoskeletal (joints) - Tenderness, pain with movement, decreased range of motion, effusion, and warmth
    • CNS - Abnormal neurologic exam findings, altered mental status, and meningismus
    • GI - Can be painless, hepatic/splenic tenderness, and peritoneal signs
    • Genitourinary - Bladder spasm/distension/pain and costovertebral angle pain
    • Other - Hematoma leading to location-specific signs (eg, airway obstruction, compartment syndrome)
  • Infectious disease
    • HIV/AIDS-related signs
    • Hepatitis-related signs

Causes

Hemophilia A is caused by an inherited or acquired genetic mutation or an acquired factor VIII inhibitor.

More on Hemophilia, Type A

Overview: Hemophilia, Type A
Differential Diagnoses & Workup: Hemophilia, Type A
Treatment & Medication: Hemophilia, Type A
Follow-up: Hemophilia, Type A
References

References

  1. Coagulation Factor VIIa Recombinant [package insert]. Denmark: Novo Nordisk; 2006. [Full Text].

  2. Bell B, Canty D, Audet M. Hemophilia: an updated review. Pediatr Rev. Aug 1995;therapeutic use(8):290-8. [Medline].

  3. Bolan CD, Alving BM. Pharmacologic agents in the management of bleeding disorders. Transfusion. Jul-Aug 1990;30(6):541-51. [Medline].

  4. Brettler DB, Levine PH. Clinical manifestations and therapy of inherited coagulation factor deficiencies. In: Hemostasis and Thrombosis: Basic Principles and Clinical Practice. 3rd ed. 1994:169-83.

  5. DiMichele D, Neufeld EJ. Hemophilia. A new approach to an old disease. Hematol Oncol Clin North Am. Dec 1998;12(6):1315-44. [Medline].

  6. Furie B, Limentani SA, Rosenfield CG. A practical guide to the evaluation and treatment of hemophilia. Blood. Jul 1 1994;therapeutic use(1):3-9. [Medline].

  7. Goldsmith JC. Hemophilia: Current Medical Management. The National Hemophilia Foundation; 1994:1-30.

  8. Luck JV, Silva M, Rodriguez-Merchan EC, et al. Hemophilic arthropathy. J Am Acad Orthop Surg. Jul-Aug 2004;12(4):234-45. [Medline].

  9. Ludlam CA. Treatment of haemophilia. Br J Haematol. May 1998;101 Suppl 1:13-4. [Medline].

  10. Manco-Johnson M. Hemophilia management: optimizing treatment based on patient needs. Curr Opin Pediatr. Feb 2005;17(1):3-6. [Medline].

  11. Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Found. Recommendations concerning prophylaxis. Medical Bulletin #193. 1994;1-3.

  12. Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Found. Recommendations regarding the use of recombinant factor VIII in the treatment of hemophilia A. Medical Bulletin # 232. 1995;1-2.

  13. Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Found. Revised recommendations regarding hepatitis A vaccination in individuals with hemophilia and other congenital bleeding disorders. Medical Advisory # 277. 1997;1-2.

  14. Mudad R, Kane WH. DDAVP in acquired hemophilia A: case report and review of the literature. Am J Hematol. Aug 1993;43(4):295-9. [Medline].

  15. Schneiderman J, Nugent DJ, Young G. Sequential therapy with activated prothrombin complex concentrate and recombinant factor VIIa in patients with severe haemophilia and inhibitors. Haemophilia. Jul 2004;10(4):347-51. [Medline].

  16. Soucie JM, Evatt B, Jackson D. Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators. Am J Hematol. Dec 1998;59(4):288-94. [Medline].

  17. von Depka M. Immune tolerance therapy in patients with acquired hemophilia. Hematology. Aug 2004;9(4):245-57. [Medline].

Further Reading

Keywords

hemophilia type A, hemophilia A, deficiency of functional plasma coagulation factor VIII, factor VIII deficiency, dysfunctional factor VIII, factor VIII inhibitors, disruption of the normal intrinsic coagulation cascade

Contributor Information and Disclosures

Author

Brendan R Furlong, MD, Clinical Chief, Department of Emergency Medicine, Georgetown University Hospital
Brendan R Furlong, MD is a member of the following medical societies: American College of Emergency Physicians and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

Coauthor(s)

Mary A Furlong, MD, Associate Professor and Program/Residency Director, Department of Pathology, Georgetown University School of Medicine
Mary A Furlong, MD is a member of the following medical societies: United States and Canadian Academy of Pathology
Disclosure: Nothing to disclose.

Medical Editor

William G Gossman, MD, Associate Clinical Professor of Emergency Medicine, Creighton University School of Medicine; Consulting Staff, Department of Emergency Medicine, Creighton University Medical Center
William G Gossman, MD is a member of the following medical societies: American Academy of Emergency Medicine
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Jeffrey L Arnold, MD, FACEP, Chairman, Department of Emergency Medicine, Santa Clara Valley Medical Center
Jeffrey L Arnold, MD, FACEP is a member of the following medical societies: American Academy of Emergency Medicine and American College of Physicians
Disclosure: Nothing to disclose.

CME Editor

John D Halamka, MD, MS, Associate Professor of Medicine, Harvard Medical School, Beth Israel Deaconess Medical Center; Chief Information Officer, CareGroup Healthcare System and Harvard Medical School; Attending Physician, Division of Emergency Medicine, Beth Israel Deaconess Medical Center
John D Halamka, MD, MS is a member of the following medical societies: American College of Emergency Physicians, American Medical Informatics Association, Phi Beta Kappa, and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

Chief Editor

Steven C Dronen, MD, FAAEM, Director of Emergency Services, Director of Chest Pain Center, Department of Emergency Medicine, Ft Sanders Sevier Medical Center
Steven C Dronen, MD, FAAEM is a member of the following medical societies: American Academy of Emergency Medicine and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

 
 
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