Hemophilia & Rare Bleeding Disorders

There are many types of congenital and acquired bleeding disorders, ranging from the most common von Willebrand’s disease, affecting up to 1% of the  population, to rare clotting factor deficiencies and platelet disorders affecting less than one in a million.1,2  

Congenital hemophilia is an inherited disorder affecting approximately 21,000 people in the US with hemophilia according to the Centers for Disease Control and Prevention (CDC).3 Congenital hemophilia includes Hemophilia A and Hemophilia B. Hemophilia A affects approximately 1 in 5,000 male births (16,000 patients in the US).3 People with hemophilia A have an absence or deficiency of clotting Factor VIII protein in the blood.4 Hemophilia B affects about 5,000 people in the U.S.5 People living with hemophilia B have an absence or deficiency of clotting Factor IX.4 Patients with hemophilia have difficulty with clotting their blood, so they bleed for longer. Hemophilia can be classified as mild, moderate, or severe based upon the amount of clotting factor activity in the blood. Bleeding typically occurs in joints, muscles, and other tissues.6  

Rare clotting factor deficiencies are a group of congenital bleeding disorders caused by a problem with missing or abnormal clotting factors.7 Factor VII deficiency affects an estimated 1 in every 500,000 people, and unlike hemophilia, equally affects men and women.8,9 Low levels of factor VII in the blood result in mucosal bleeding (gums, menorrhagia), but also joint and potentially intracranial bleeding.10 Factor XIII deficiency is also very rare, affecting only 1 in 2 million people, with 168 people in the US currently seen in treatment centers.5,11 People with congenital factor XIII deficiency are born with low levels of factor XIII in the blood, which can result in life-threatening bleeds in the head in patients with a severe deficiency if not administered routine replacement.12  

Glanzmann’s Thrombasthenia (GT), an inherited platelet disorder, which affects one in a million men and women globally.2 This typically occurs because platelet recruitment and adhesion is impaired, which significantly impacts the blood's ability to start to form strong clots through the initial process of platelets aggregating or clumping together. This process results in the formation of a plug in the bleeding vessel. Subcutaneous and mucosal bleeding are most common, and even frequent nose or gum bleeds can become life-threatening.13-15

Acquired hemophilia, like rheumatoid arthritis or systemic lupus erythematosus, is an autoimmune disorder. In acquired hemophilia, the body makes antibodies, typically against its own clotting factor VIII. Each year, acquired hemophilia occurs in only 1.5 per million people per year.16-18 Acquired hemophilia affects both men and women almost equally and almost always occurs in adults. It most often affects the elderly, but can sometimes be seen in women after giving birth (called post-partum period).19,20  

For additional education and information on diagnosis and laboratory testing of hemophilia and rare bleeding disorders, please go to CoagsUncomplicated.com.

Hemophilia & Rare Bleeding Disorders

There are many types of congenital and acquired  bleeding disorders, ranging from the most common von Willebrand’s disease, affecting up to 1% of the  population, to rare clotting factor deficiencies and platelet disorders affecting less than one in a million.1,2  

Congenital hemophilia is an inherited disorder affecting approximately 21,000 people in the US with hemophilia according to the Centers for Disease Control and Prevention (CDC).3 Congenital hemophilia includes Hemophilia A and Hemophilia B. Hemophilia A affects approximately 1 in 5,000 male births (16,000 patients in the US).3 People with hemophilia A have an absence or deficiency of clotting Factor VIII protein in the blood.4 Hemophilia B affects about 5,000 people in the U.S.5 People living with hemophilia B have an absence or deficiency of clotting Factor IX.4 Patients with hemophilia have difficulty with clotting their blood, so they bleed for longer. Hemophilia can be classified as mild, moderate, or severe based upon the amount of clotting factor activity in the blood. Bleeding typically occurs in joints, muscles, and other tissues.6  

Rare clotting factor deficiencies are a group of congenital bleeding disorders caused by a problem with missing or abnormal clotting factors.7 Factor VII deficiency affects an estimated 1 in every 500,000 people, and unlike hemophilia, equally affects men and women.8,9 Low levels of factor VII in the blood result in mucosal bleeding (gums, menorrhagia), but also joint and potentially intracranial bleeding.10 Factor XIII deficiency is also very rare, affecting only 1 in 2 million people, with 168 people in the US currently seen in treatment centers.5,11 People with congenital factor XIII deficiency are born with low levels of factor XIII in the blood, which can result in life-threatening bleeds in the head in patients with a severe deficiency if not administered routine replacement.12  

Glanzmann’s Thrombasthenia (GT), an inherited platelet disorder, which affects one in a million men and women globally.2 This typically occurs because platelet recruitment and adhesion is impaired, which significantly impacts the blood's ability to start to form strong clots through the initial process of platelets aggregating or clumping together. This process results in the formation of a plug in the bleeding vessel. Subcutaneous and mucosal bleeding are most common, and even frequent nose or gum bleeds can become life-threatening.13-15

Acquired hemophilia, like rheumatoid arthritis or systemic lupus erythematosus, is an autoimmune disorder. In acquired hemophilia, the body makes antibodies, typically against its own clotting factor VIII. Each year, acquired hemophilia occurs in only 1.5 per million people per year.16-18 Acquired hemophilia affects both men and women almost equally and almost always occurs in adults. It most often affects the elderly, but can sometimes be seen in women after giving birth (called post-partum period).19,20  

For additional education and information on diagnosis and laboratory testing of hemophilia and rare bleeding disorders, please go to CoagsUncomplicated.com.

References

  1. What is von Willebrand Disease? NHF. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Von-Willebrand-Disease. Updated 2014. Accessed April 5 2018
  2. Poon M. Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann's thrombasthenia. Vascular Health and Risk Management. 2007;3(5): 655-664.
  3. Hemophilia: Data & Statistics. CDC. http://www.cdc.gov/ncbddd/hemophilia/data.html. Accessed April 3, 2018.
  4. Escobar MA, Key NS. Hemophilia A and Hemophilia B. In: Kaushansky K, Lichtman MA, Prchal JT, Levi MM, Press OW, Burns LJ, Caligiuri M. eds. Williams Hematology, 9e New York, NY:McGraw-Hill; http://accessmedicine.mhmedical.com/content.aspx?bookid=1581&sectionid=108082996. Accessed April 06, 2018.
  5. Community Counts: The HTC Population Profile. Available at: https://www.cdc.gov/ncbddd/hemophilia/communitycounts/documents/htc-population-profile-report-5-rev2_508compliant.pdf. Accessed February 7, 2018
  6. Srivastava A, et al. Guidelines for the management of hemophilia. Haemophilia. 2013;19(1):e1-e47
  7. What are rare clotting factor deficiencies. WFH. Available at: https://www.wfh.org/en/page.aspx?pid=662. Accessed April 4, 2018.
  8. Giansily-Blaizot M & Schved JF. Recombinant factor VIIa for long-term replacement therapy in patients with congenital factor VII deficiency. Thromb Haemost. 2005;94:901-906.
  9. Mariani G & Bernardi F. Factor VII Deficiency. Semin Thromb Hemost. 2009;35:400-406.
  10. What is Factor VII deficiency? http://www.wfh.org/en/page.aspx?pid=665. Updated May 2012. Accessed April 4 2018.
  11. Schroeder V, Kohler HP. Factor XIII deficiency: an update. Semin Thromb Hemost. 2013;39(6):632-641.
  12. Peyvandi F, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost. 2012;10:615-621.
  13. Nurden A. Glanzmann's thrombasthenia. Orphanet J Rare Dis. 2006;1:10.
  14. Poon M-C et al. Glanzmann’s thrombasthenia: strategies for identification anf management. Expert Opin Orphan Drugs. 2017;5(8):641–53.
  15. Solh T et al. Glanzmann’s thrombasthenia: pathogensis, diagnosis, and current and emerging treatment options. J Blood Med. 2015;6:219–27
  16. NORD. Acquired hemophilia. http://rarediseases.org/rare-diseases/acquired-hemophilia/. Published 2012. Accessed April 5, 2018.
  17. Collins PW. Management of acquired hemophilia A. J Thromb Haemost. 2011;9(suppl 1):226-235.
  18. Collins PW et al. Acquired hemophilia A in the United Kingdom: a 2-year national surveillance study by the United Kingdom Centre Doctors’ Organisation. Blood. 2007;109(5):1870-1877.
  19. Ma AD & Carrizosa D. Acquired factor VIII inhibitors: pathophysiology and treatment. Hematology Am Soc Hematol Educ Program. 2006;432–437.
  20. Green D & Lechner K. A survey of 215 non-hemophilic patients with inhibitors to factor VIII. Thromb Haemost. 1981; 45:200–203.