Cardiovascular

What every nurse should know about hemophilia

As nurses, we know there’s no such thing as a simple patient. Essentially, every patient has more than one diagnosis. And as the U.S. population ages, our patients will have longer lists of chronic diagnoses and medications—and their nursing care will grow even more complex.

One diagnosis that requires particularly complex care is a bleeding disorder, such as hemophilia. Don’t confuse this with a clotting disorder, which increases the tendency to clot. Bleeding disorders, in contrast, lead to prolonged bleeding due to inability to form a strong clot. The inability stems from a missing protein or dysfunction of one of the blood substances that promote clotting.

Bleeding disorders are rarer than clotting disorders, and most nurses have little experience with them and little knowledge of how to care for patients who have them. Unlike clot prevention, which many nurses encounter on every shift, bleeding disorders rarely come up in shift report. Patients with hemophilia who are knowledgeable about their disorder quickly notice caregivers’ lack of knowledge—and it makes them uncomfortable. Learning about bleeding disorders can vastly improve the care you provide and increase patients’ confidence in your care.

Prolonged bleeding has multiple causes. This article discusses hereditary bleeding disorders—specifically hemophilia A and hemophilia B. It doesn’t cover other coagulation factor deficiencies or platelet disorders. (Von Willebrand disease is the most common hereditary bleeding disorder, but it is complex and deserves an article of its own.) If you encounter a patient with a factor deficiency, research that factor specifically; issues related to that deficiency aren’t necessarily the same as for the disorders discussed here.

Types, incidence, and severity

A genetic disorder, hemophilia can be mild, moderate, or severe. It causes prolonged bleeding, which may arise spontaneously or follow surgery or trauma. Bleeding can occur in any part of the body and usually isn’t external. Instead, most bleeding is internal, especially into the joints, which eventually causes joint damage. Many older patients who lacked good hemophilia treatment when younger have severely damaged joints due to joint bleeds.

Although hemophilia once was debilitating, treatments have improved. Chronic conditions (such as arthritis, hepatitis, human immunodeficiency virus [HIV], and chronic pain) are common in adults with hemophilia. But the improved treatments now available have made these chronic conditions less common among younger patients with hemophilia.


Hemophilia occurs in two major types—A and B.

  • Hemophilia A, a deficiency of coagulation factor VIII, occurs in approximately 1 in 10,000 males.
  • Hemophilia B, a deficiency of coagulation factor IX, occurs in approximately 1 in 50,000 males.

Due to limited diagnosis and registries in some parts of the world, hemophilia prevalence can only be estimated. According to the Centers for Disease Control and Prevention (CDC), about 20,000 Americans currently have hemophilia.

Hemophilia is categorized as mild, moderate, or severe. (See How severe is your patient’s hemophilia? by clicking the PDF icon above)

Genetic factors

Females are born with two X chromosomes—one from the mother and one from the father. Males are born with one X chromosome (from the mother) and one Y chromosome (from the father). Genetic information for coagulation factors is located on the X chromosome.

Hemophilia A and B are X-linked recessive disorders. When a mother passes her hemophilia-
affected X chromosome to her son, he will have hemophilia; when she passes it to her daughter, the daughter will be a hemophilia carrier. Female carriers of the mutated gene have a 50% chance of passing it to each child. If a female passes it to her female child, the child will become a carrier; if she passes it to her son, he will have hemophilia. Because males have only one X chromosome, males with hemophilia always pass the mutated chromosome to their daughters; they don’t pass the disorder to their sons.

Thus, females are only carriers of the mutated gene, except in rare circumstances (such as Turner Syndrome, where one X chromosome is completely or partially missing). Carriers have one X chromosome with the mutated gene and another with a normal copy of the gene. The normal copy can override the mutated gene. (Although presence of the normal copy prevents very low levels of coagulation factor, many carriers have factor levels low enough to cause prolonged bleeding. Some clinicians overlook this possibility because of the misconception that only males can have hemophilia.)

Approximately one-third of hemophilia cases result from spontaneous genetic mutations. This means some people with hemophilia have no family history of the disorder.

Treatment

For many years, blood or plasma transfusions were the main treatment for hemophilia. In the 1970s, development of factor replacement products from plasma donations improved treatment options and changed the lives of patients with hemophilia in more ways than one. No longer did they have to go to the hospital for long transfusions. Instead, they could receive a short infusion with a small needle at home to stop the bleeding.

Until recently, many people with hemophilia suffered joint damage due to recurring internal joint bleeds. Because of the bleeding risk during and after surgery, they couldn’t undergo surgery to repair damaged joints. But factor replacement products now make it possible for them to have joint surgery, which increases their mobility and reduces pain.

Although replacement factor has brought hemophilia one step closer to a cure, the promise of a cure was clouded in the 1980s with discovery that the blood supply was contaminated with HIV and other bloodborne diseases. Sadly, many people with hemophilia contracted HIV, hepatitis C, or both from transfusions and early factor products.

With safety emerging as a critical concern, pharmaceutical companies soon began heating and processing factor products in a way that greatly reduced the risk of infectious disease transmission. Eventually, they began developing factor products without human plasma. Today, most factor products used to treat hemophilia are recombinant and not processed from donated plasma.

Recombinant factor products

Several recombinant factor products are available; these products are specifically factor VIII or factor IX. Dosing varies with the type of bleeding being treated. The hematologist determines the appropriate dosage. Factor is measured in units; each lot contains a different number of units per vial. Many brands are available in units of 250, 500, 1000, 2000, and in some cases 3000—but vials rarely contain those exact amounts.

Due to the extremely high cost of factor, dosages usually are prescribed as a range. While factor is available in various dosages, it’s nearly impossible to find a vial with the exact number of units to match the prescribed dosage. For example, an order for 25 units/kg for a patient weighing 68 kg indicates a dosage of 1700 units. Yet, the only vials available may have 1143 units and 580 units (for a total of 1723 units). Instead of wasting factor, it’s acceptable to infuse 1723 units. Many hematologists order a dosage of 25 units/kg plus or minus 10% to allow for a proper dosage without wastage.

When administering factor products, make sure to give the right one for your patient’s type of hemophilia. Also, be aware that all factor products must be reconstituted before administration. They’re packaged in kits that include a vial of factor (in powder form), a vial of diluent, and a mixing device. Most mixing devices have a built-in filter. Swirl (don’t shake) the medication when mixing. Infuse the factor by slow I.V. push as soon as possible after reconstitution. Infusion times vary by product, so always read the package insert to reconstitute and administer the product correctly.

Some patients with hemophilia develop inhibitors, or antibodies to replacement factor, making it harder to stop a bleeding episode. When this occurs, the treatment plan must be adjusted. The patient may require a higher dosage of replacement factor or factor VIIa, or a bypassing agent that allows clotting to occur even without factor VIII or XI. The hematologist determines appropriate treatment.

Hormone therapy

Hormone therapy (typically oral contraception) is used to treat heavy menses in hemophilia carriers or patients with other bleeding disorders. Hormone manipulation raises factor levels and reduces bleeding. Medroxyprogesterone (Depo-Provera) injections have the same effect and may decrease or eliminate menstrual bleeding. Some intrauterine devices also are effective in treating heavy menses in these patients.

Desmopressin (DDAVP), a synthetic vasopressin, is used to treat mild hemophilia A. It’s available in I.V. or subcutaneous form as well as a nasal spray called Stimate. (Lower-dosage nasal sprays aren’t effective in treating bleeding.) Desmopressin triggers release of stores of certain clotting factors from blood-vessel walls into the bloodstream, temporarily increasing factor levels and stopping or preventing bleeding. It’s not effective in every patient, so patients must undergo a recovery study or test to determine if their body responds well to the medication.

Know that desmopressin causes fluid retention. Monitor and limit patients’ fluid intake after administration to prevent hyponatremia, especially in children, elderly patients, and those with certain cardiovascular conditions.

Other medications

Aminocaproic acid (Amicar) is used to treat mucosal bleeding. An antifibrinolytic, it prevents breakdown of clots until the damaged area has healed completely. Available in I.V. and oral form, it’s often used after dental surgery and for epistaxis or even heavy menses. Tranexamic acid (Lysteda) is relatively new to the U.S. market and works similarly to aminocaproic acid; it’s indicated for heavy menses.

Drugs not to give

Be aware that some drugs, such as aspirin and other nonsteroidal anti-inflammatory drugs, may not be appropriate for patients with bleeding disorders because they increase the bleeding risk.

Nursing considerations

Nursing considerations for hospital patients with hemophilia vary with the reason for admission. Those admitted for a problem unrelated to their bleeding disorder nonetheless need to be monitored for bleeding. Urge the physician to obtain a hematology consult.

Stay alert for bleeding

Monitor the patient for signs and symptoms of bleeding. Listen closely as your patient describes symptoms. Typically, patients experience bleeding symptoms before signs become apparent. Pain is among the first symptoms of a joint or soft-tissue bleed; the patient may complain of pain in a localized area but lack outward signs of bleeding.

As the bleed progresses without treatment, increased pain and joint damage can occur. Eventually, a bleed causes redness, warmth, and swelling. As ordered, administer replacement factor promptly and use rest, ice, compression, and elevation. Once the bleeding stops, be aware that pain may persist until the body reabsorbs the blood. (See Intervening for bleeding episodes by clicking the PDf icon above.)

Precautions for patients undergoing invasive procedures

Surgical patients with hemophilia require close monitoring, factor administration before the procedure, and consideration of deep vein thrombosis prophylaxis. As needed, arrange for follow-up care at discharge. Many patients require multiple infusions after major surgery; unless these infusions are arranged before discharge, patients may not receive proper treatment and may require readmission for postoperative bleeding.

Other invasive procedures that require pretreatment with medication include colonoscopy, biopsy, steroid injections, arthrocentesis, and dental procedures. Consult a hematologist if a patient with a bleeding disorder requires one of these procedures. Simple pretreatment can prevent severe complications. Also, be sure to hold pressure after blood draws, arterial sticks, or I.V. line removal. (See Precautions for hemophilia carriers by clicking the PDF icon above.)

Home treatment

Many patients with hemophilia and their families receive comprehensive care through a hemophilia treatment center that’s part of a national network of family-centered hemophilia treatment centers. One of the primary goals of these centers is to educate patients and families about the disorder. These centers can find such resources as classes, camps, home-care nurses, scholarships, and other programs specially designed for patients and families affected by bleeding disorders. If your patient receives care at a hemophilia treatment center, call the center. Caregivers there follow patients closely and can give you useful information regarding your patient’s care.

Most patients with bleeding disorders know a great deal about their disorder. At an early age, they’re taught to recognize symptoms. They understand that prompt, adequate treatment after an injury or when bleeding symptoms arise is crucial and can improve quality of life. Most have learned to advocate for themselves and seek quick treatment.

Also, many patients infuse their own replacement factor at home; many have implanted ports for easier administration. Children as young as age 6 are taught how to use a butterfly needle to infuse factor. They can’t complete the process on their own at this age, but starting the steps early promotes later independence. In most cases, parents are taught how to give factor infusions when their children are infants.

Most children and many adults with severe hemophilia treat themselves prophylactically with factor infusions, infusing factor three times weekly to keep enough in their blood to prevent bleeding and joint damage. Prophylaxis has improved the quality of life for patients with severe hemophilia. Today, young people with hemophilia can participate in activities their grandfathers could only watch from the sidelines. (However, be aware that contact sports are still discouraged for patients with hemophilia.)

Patients who treat themselves at home generally do well. When they require additional treatment, they need healthcare providers who are knowledgeable about their disorder. Having accurate, up-to-date information about signs, symptoms, treatments, and nursing implications of bleeding disorders helps ensure they receive proper care and gives them confidence in their care providers. As with all chronic disorders, even if you don’t remember everything about the disorder, you can improve the care you provide by listening to the patient and finding appropriate resources.

Selected references

Baker JR, Riske B, Drake JH, et al. US Hemophilia Treatment Center population trends 1990-2010: patient diagnoses, demographics, health services utilization. Haemophilia. 2013;19(1);21-6.

Carcao M, Moorehead P, Lillicrap D. Hemophilia A and B. In: Hoffman R, Benz EJ, Silberstein LE, et al., eds. Hematology: Basic Principles and Practice, Expert Consult Premium Edition. 6th ed. Philadelphia: Elsevier Saunders; 2012.

Centers for Disease Control and Prevention. Hemophilia: Data and statistics. Last updated June 20, 2011. www.cdc.gov/ncbddd/hemophilia/data.html. Accessed January 22, 2013.

Centers for Disease Control and Prevention. Hemophilia: Information for women. Last updated June 20, 2011. www.cdc.gov/ncbddd/hemophilia/women.html. Accessed January 15, 2013.

Chow L, Farber MK, Camann WR. Anesthesia in the pregnant patient with hematologic disorders. Hematol Oncol Clin North Am. 2011;25(2):425-43.

Hemophilia of Georgia. Protocols for the treatment of hemophilia and von Willebrand disease. Revised February 2012. www.hog.org/publications/page/protocols-for-the-treatment-of-hemophilia-and-von-willebrand-disease-2. Accessed January 15, 2013.

National Hemophilia Foundation. MASAC guidelines for perinatal management of women with bleeding disorders and carriers of hemophilia A and B. MASAC Document #192. www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=57&contentid=1436. Accessed January 15, 2013.

National Institutes of Health and National Heart, Lung, and Blood Institute. The diagnosis, evaluation, and management of von Willebrand disease. 2007NIH Publication No. 08-5832. www.nhlbi.nih.gov/guidelines/vwd. Accessed January 15, 2013.

National Hemophilia Foundation. Nurses’ guide to bleeding disorders. http://www
.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=98&contentid=81&rptname=
. Accessed January 15, 2013.

Siddiqi AE, Ebrahim SH, Soucie JM, et al. Burden of disease resulting from hemophilia in the U.S. Am J Prev Med. 2010;38(suppl 4):S482-8.

Valentino LA, Hakobyan N, Enockson C, et al. Exploring the biological basis of haemo­philic joint disease: experimental studies. Haemophilia. 2012;18(3):310-8.

Vanderhave KL, Caird MS, Hake M, et al. Musculoskeletal care of the hemophiliac
patient. J Am Acad Orthop Surg. 2012;20(9):553-63.

Denise Hitch is team leader at the East Tennessee Comprehensive Hemophilia Center in Knoxville, Tennessee.

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