Submitted by: Sepi Jooniani, MD, MPH (Blog Editor for the month)
Introduction to Hemophilia
The term Hemophilia encompasses a group of hereditary genetic disorders that alter homoeostatis, wherein to due certain deficiencies in the clotting cascade, the human body is rendered inept at controlling bleeding from an ulcerated blood vessel. Depending on the subtype and severity of the disease, as well as the presence of trauma, hemophilia can cause severe hemorrhage, anemia, and possibly even death if left untreated. Although hemophilia is seen in both
genders, it is typically more common in males due to its classification as an X-linked disorder.
- Hemophilia A — the most common of the hemophilic disorders, and is seen in about 1 out of every 5,000-10,000 births.1 This disease is specifically due to a deficiency of clotting factor VIII, and is caused by the inability of the liver’s sinusoidal endothelial cells to synthesize factor VIII effectively.
- Hemophilia B — also known as Christmas disease. It is the second most common hemophilic disorder and occurs in about 1 out of every 20,000-34,000 male births. This disease is caused by a deficiency of clotting factor IX.
- Hemophilia C — is caused by a deficiency of factor XI. It is a non-sex linked hemophilia, which can affect either gender and is typically seen in Ashkenazi Jews.
Hemophilia symptoms are categorized as mild, moderate, or severe.
- Mild Hemophilia — patients suffer minor symptoms such as easy bruising. The condition generally becomes apparent after a surgical procedures or tooth extraction, or upon incurring trauma. While normal clotting factor levels range between 50% to 150%, in mild hemophilia these levels fall between 6 and 49%.
- Moderate/Severe Hemophilia — Patients with moderate or severe hemophilia have the propensity to bleed internally. This most commonly manifests as a ‘joint bleed’ where blood enters a joint space causing pain, limitation of movement, and dis-figuration of the joint if left untreated. Joint bleeds often occur spontaneously, in the absence of any notable trauma. In moderate hemophilia, factor levels are between 1 to 5 %, with severe hemophiliacs averaging levels less than 1%.
Management of Hemophiliacs in the ED
In terms of management and effective treatment of hemophiliac patients, the primary set back in the ED is not knowing the exact type of hemophilia the patient has, and therefore not knowing the exact clotting factor they are deficient in. Fortunately, many families are aware of the exact details of their condition and from experience, know the treatments they are most responsive to. In the ED, the physician should perform a thorough physical examination after obtaining a complete medical history. Looking for ecchymosis, hematomas, frank bleeding, swelling, skin and neurovascular integrity of all extremities, in addition to muscle strength. Neurological assessment is also highly recommended to rule out CNS and spinal cord hemorrhage.
If hemophilia is suspected, an IV line must be placed promptly and laboratory tests
obtained, specifically complete blood count, to look for anemia, and bleeding times. If
the patient or family members know which factor is deficient, the physician can then
order a factor level assay immediately, but should begin treatment while the results are
still pending. Factor replacement is the first intervention and it should be started
empirically, prior to any further diagnostic testing.
- Factor Replacement Therapy
When managing an acute bleed in a hemophiliac patient in the ED, administration of the factor concentrate requires several considerations. The factor baseline for the individual and the time at which the last dose of factor replacement was given must be known, and the infusion rate must be calculated. Additionally, the attending ED physician should be aware if the patient’s routine treatment includes prothrombin complex concentrate (PCC) or activated prothrombin concentrate (aPCC), in order to avoid causing the adverse effect of disseminated intravascular coagulation (DIC) that is seen if patients receiving the above treatment receive excessive doses of replacement factors.
- Analgesic Administration and Immobilization
Pain medications containing aspirin or ibuprofen should be avoided. Instead other non-steroidal anti-inflammatory drugs should be used, however only after consultation with a hematologist. In cases of muscle bleeding, splinting and applying ice to the affected area play an important part in the reduction of swelling. Finally, many of these patients also require intensive psychosocial support and family education in order to better cope with this condition, reduce the likelihood of complications, and to successfully return to normal daily activities.
- ED physicians should also be aware of the specific drugs targeted to hemophiliacs for acute bleeding crises:
- AMICAR (aminocaproic acid) — For hemophiliac A patients, AMICAR acts as an inhibitor of fibrinolysis, can be given orally or intravenously.
- TXA (tranexamic acid) — An anti-fibrinolytic agent, used for heavy bleeding states, administered in tablets or syrup form.
- Desmopressin (synthetic vasopressin analogue) — Increases plasma concentration of factor VIII and von Willebrand’s factor. Since its first clinical use in 1977, Desmopressin has become the treatment of choice for patients with hemophilia A who have factor VIII coagulant activity of at least 5%.
- FEIBA — Most recently, the FDA also approved Baxter's anti-inhibitor coagulant complex, which is also indicated for spontaneous bleeding episodes. It additionally can be used in Hemophilia A or B patients as prophylaxis during surgical interventions.
1. Zaiden, Robert A, MD. Mary A Furlong, MD. Gary D Crouch, MD. Emmanuel C Besa, MD. (2013, December 23). Hemophilia A Clinical Presentation. Retrieved on December 28, 2013 from: Medscape. http://emedicine.medscape.com/article/779322-overview.
2. Riley, Leticia RN, BSN. Womack, Mack RN, BSN. Zappa, Susan RN, CPN (Original Author: Nancy Roy, RN, MSN, ARNP, FNP). Emergency Room Care. National Hemophilia Foundation. www.hemophilia.org. 2012.
3. Castaman G. (2008, January 14). Desmopressin for the treatment of haemophilia. Suppl 1:15-20. Retrieved on January 2, 2014 from PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/18173690.
4. Tucker, Miriam. E. (2013, December 23). FDA Approves Hemophilia Drug FEIBA for Bleeding Prophylaxis. Disclosures. Retrieved on December 28, 2013 from: Medscapehttp://www.medscape.com/viewarticle/818236.