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Hemophilia

Hemophilia is an inherited disease in which your blood does not clot. People with hemophilia have low levels of one of two blood-clotting substances, known as factor VIII and factor IX. As a result, they may bleed for a long time after an injury. They may also experience internal bleeding, especially in the joints. There are two types of hemophilia -- type A and type B. Hemophilia is the most common inherited bleeding disorder.

 

Signs and Symptoms

People with hemophilia may have the following signs and symptoms:

  • Joint pain and swelling, frequently in the knees and elbows
  • Heavy bleeding, or bleeding that lasts a long time, from an accident or other injury
  • A delay in the start of bleeding
  • Large bruises
  • Swelling under the skin and between muscles, with fever, skin discoloration, and pain
  • Internal bleeding in the abdominal region, airway, or central nervous system
  • Bleeding of the mouth and gums, tooth loss
  • Blood in the urine
  • Digestive problems
  • Nosebleeds

What Causes It?

Hemophilia is an inherited disorder that mostly affects men. Women rarely have the disease, but they are carriers of the condition and can pass it on to male children. About 30% of patients with hemophilia have no family history of the disease, and it seems to occur as a result of spontaneous mutations.

Who's Most At Risk?

Hemophilia affects people from all ethnic groups. The daughters of men with hemophilia will be carriers. However, even if hemophilia runs in the family, only about half of the sons of carriers will have hemophilia.

What to Expect at Your Provider's Office

Health care providers usually diagnose hemophilia before birth through a blood test. After birth, the first sign of hemophilia is often deep and easy bruising as an infant is learning to crawl. For male children, heavy bleeding after circumcision may be the first sign of the condition. Your health care provider may diagnose cases of mild hemophilia even later, after a tooth extraction or following surgery. During a physical examination, your health care provider will take a family history and check for deep bleeding, muscle spasms, limited joint motion, joints that are warm and enlarged, and bruises. Blood tests can show whether clotting factors are low or missing. Your health care provider may request computed tomography (CT) scans and magnetic resonance imaging (MRI) to find bleeding in the joints.

Treatment Options

Prevention

Hemophilia cannot be cured, however, patients who start prophylaxis early (by age 3) show a better muscuoloskeletal outcome and fewer joint bleeds. People with hemophilia should take the following precautions:

  • Avoid taking aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs).
  • Get vaccinated (including infants) with the hepatitis B vaccine.
  • Administer factor VIII or IX (see below) on a regular basis, to help prevent bleeding and joint damage.
  • Avoid circumcising male infants of women known to be carriers until the baby has been tested for hemophilia.
  • Carry information at all times identifying the person as someone with hemophilia.

Treatment Plan

The primary treatment for hemophilia is factor replacement therapy, which replaces the blood's deficient clotting factor. You may receive the treatment to stop bleeding or to prevent bleeding from starting. Regular infusions of clotting factor several times a week reduces the risk of bleeding. You may get infusions at home. Your health care provider may also prescribe pain relievers, however, you will be advised to avoid aspirin and nonsteroidal antiinflammatory drugs (NSAIDs), including Aleve, Motrin, and ibuprofen. If internal bleeding has damaged joints, physical therapy or, in severe cases, joint replacement may restore function.

Drug Therapies

A health care provider may prescribe the following medications:

  • Factor VIII or IX replacement therapy
  • Pain relievers other than aspirin or NSAIDs (Aleve, Motrin, ibuprofen), because they decrease the blood's ability to clot
  • Topical medications to control bleeding
  • The drug desmopressin (DDAVP) may be used in mild cases of hemophilia A to stimulate low levels of clotting factor
  • Somatic gene cell therapy

Surgical and Other Procedures

Certain types of surgery may become necessary, including:

  • Joint replacement
  • Removal of an uncontrollable, expanding hematoma (partially clotted blood under the skin that resembles a bruise)

Complementary and Alternative Therapies

Hemophilia requires conventional medications. When you are bleeding or have joint pain or swelling, get medical help immediately. Some CAM therapies may be helpful when used with conventional care for certain symptoms. For example, some mind-body therapies may help relieve stress and anxiety, which can reduce bleeding. Studies even suggest that hypnosis may reduce (but not eliminate) the need for blood transfusions.

Self Hypnosis

Several preliminary studies suggest that those who practice self hypnosis need fewer blood products over an extended period of time (2 - 3 years) than those who do not use the technique. One study included relaxation training along with hypnosis. Published and unpublished reports on individual patients also suggest that hypnosis may help blood clot better and may reduce the need for blood transfusions.

Nutrition

No studies have examined the link between nutrition and hemophilia. You should avoid vitamin E and fish oil supplements if you have hemophilia, as they seem to increase bleeding time by keeping platelets from clumping. Vitamin K plays a role in normal clotting and may be useful either from dietary sources or in supplement form. More research is needed. Do not take vitamin K supplements without first talking to your doctor.

Herbs

You should never use herbal therapies without your doctor's supervision. However, based on their own experience, health care providers may recommend the following herbs to strengthen blood vessels and act as astringents (causing contraction) to make bleeding less severe. In addition, people with hemophilia should avoid the following herbs, which tend to make bleeding more severe:

  • Ginkgo ( Ginkgo biloba)
  • Garlic (Allium sativum)
  • Ginger (Zingiber officinale)
  • Ginseng (Panax spp.)
  • Horse chestnut ( Aesculus hippocastanum)
  • Turmeric (Curcuma longa)
  • White Willow (Salix alba)

Since herbs can affect clotting in one way or another, people with hemophilia should take herbs only under a doctor's supervision.

Homeopathy

Few studies have examined the effectiveness of specific homeopathic remedies. However, several case reports have found that the following remedies were helpful for people with hemophilia and even reduced their need for blood clotting substances like factor VIII. Before prescribing a remedy, homeopaths take into account a person's constitutional type -- your physical, emotional, and intellectual makeup. An experienced homeopath assesses all of these factors, as well as any current symptoms, when determining the most appropriate remedy for a particular person.

  • Arnica -- for internal or external bleeding immediately following an injury. It is helpful for shock or trauma.
  • Carbo vegetabilis -- for people with pale skin and weakness who are extremely frail, even listless, but like cold and fresh air.
  • Crotalus horridus -- used when there is bleeding into the muscles and when blood appears thin and dark. This remedy is most appropriate for people who are tall, thin, and pale, and have diarrhea and an aversion to warm food and drink. They may also fear being alone and death.
  • Hamamelis -- for bleeding from a cut or wound, especially useful in nosebleeds, hemorrhoids, and broken blood vessels in the eye.
  • Lachesis -- for heavy bleeding that is dark in color, especially in red-headed individuals who are jealous and depressed.
  • Millefolium -- for internal or external wounds with significant bleeding and poor clotting.
  • Phosphorus -- for frequent, heavy bleeding. This remedy is most appropriate for people who have cold sweats and desire to drink alcoholic beverages. The person may also feel as though clothing aggravates the throat.
  • Secale -- for bleeding that is worsened by heat and lessened by cold.
Acupuncture

Acupuncture is not recommended for people with hemophilia because of the risk of bleeding. If you choose to try acupuncture, work with a trained, licensed acupuncturist who has experience dealing with hemophilia. Laser acupuncture or acupressure may be better for those with hemophilia.

Physical Medicine

Regular exercise can build strong muscles and help prevent joint problems. People with hemophilia can exercise safely, although they should avoid contact sports. Physical therapy may also play an important role in reducing joint problems caused by repeated bleeding in those areas. Your physical therapist may recommend the following exercises:

  • Stretching
  • Movement exercises
  • Resistance training (such as weight lifting)

Work with your health care provider to develop a program that is best for you. You should use the routine for at least 6 - 9 months to treat chronic joint inflammation and to prevent severe bleeding.

Prognosis/Possible Complications

Most people with hemophilia can manage their condition and lead normal lives. In people who do not receive factor replacement therapy, however, complications include the destruction of bones and joints, life-threatening cysts, bleeding in the brain, gangrene, bleeding into muscles causing damage to nerves, long-term bruising, and anemia. Sudden bleeding can occur with emotional stress. Although contracting HIV from blood products is rare, about one third of people with hemophilia (between the ages of 21 to 60) are infected with HIV. Elderly patients with hemophilia may have more difficulties with daily living.

Following Up

Your health care provider will want to see you every 6 to 12 months. Your health care provider may also suggest centers where you can receive a range of treatments and learn more about how to manage your condition.

Supporting Research

Beers MH, Porter RS, et al. The Merck Manual of Diagnosis and Therapy. 18th ed. Whitehouse Station, NJ: Merck Research Laboratories; 2006:1085-1086.

Blumenthal M, Goldberg A, Brinckmann J, et al., eds. Herbal Medicine: Expanded Commission E Monographs . Newton, Mass: Integrative Medicine Communications; 2000.

Broderick CR, Herbert RD, Latimer J, et al. Association between physical activity and risk of bleeding in children with hemophilia. JAMA . 2012; 308(14):1452-1459.

Carcao M, Moorehead P, Lillicrap D. Hemophilia A and B. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice, 6th ed. Philadelphia, PA;Saunders; 2013:1940-1960.

Carcao MD. The diagnosis and management of congenital hemophilia. Semin Thromb Hemost. 2012;38(7):727-734.

Chuah MK, Evens H, VandenDriessche T. Gene therapy for hemophilia. J Thromb Haemost. 2013;11:1538-7836.

Collins PW. Treatment of acquired hemophilia A. J Thromb Haemost. 2007;5(5):893-900.

DiMichele DM. Inhibitor treatment in hemophilias A and B: inhibitor diagnosis. Hemophilia. 2006;12(Suppl 6):37-41; discussion 41-42.

Ferri FF. Hemophelia. In: Ferri's Clinical Advisor, 2015, 1st ed. St Louis, MO; Mosby. 2015:541-542.e1.

Franchini M, Capra F, Nicolini N, Veneri D, Manzato F, Baudo F, Lippi G. Drug-induced anti-factor VIII antibodies: a systematic review. Med Sci Monit. 2007;13(4):RA55-RA61.

Franchini M, Lippi G, Montagnana M, et al. Hemophilia and cancer: a new challenge for hemophilia centers. Cancer Treat Rev. 2009;35(4):374-377.

Gringeri A, Lundin B, von Mackensen S, Mantovani L, Mannucci PM. A randomized clinical trial of prophylaxis in children with hemophilia A (the ESPRIT Study). J Thromb Haemost. 2011;94(4):700-710.

Hoots WK, Nugent DJ. Evidence for the benefits of prophylaxis in the management of hemophilia A. Thromb Haemost. 2006;96(4):433-440.

Kulkarni R, Soucie JM. Pediatric hemophilia: a review. Semin Thromb Hemost. 2011; 37(7):737-744.

Musso R. Efficacy and safety of recombinant factor VIII products in patients with hemophilia A. Drugs Today (Barc). 2008;44(10):735-750.

Ragni MV. Hemorrhagic Disorders: Coagulation Factor Deficiencies. In: Goldman L, Schafer AI. Goldman's Cecil Medicine, 24th ed. Philadelphia, PA: Saunders, An Imprint of Elsevier. 2012:1137-1145, e34-e43.

Rodriguez, N. Hoots W. Advances in Hemophilia: Experimental Aspects and Therapy. Pediatr Clin N Am. 2008;55:357-376.

Rodriguez, N. Hoots W. Advances in Hemophilia: Experimental Aspects and Therapy. Hematology/Oncology Clinics of North America. 2010;24(1):181-198.

Schaub RG. Recent advances in the development of cagulation factors and procoagulants for the treatment of hemophilia. Biochem Pharmacol. 2011;82(2):91-98.

Scott JP, Montgomery RR. Hereditary Clotting Factor Deficiencies (Bleeding Disorders). In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics, 19th ed. Philadelphia, PA: Saunders, An Imprint of Elsevier; 2011:1699-1704.e3.

Siboni SM, Mannucci PM, Gringeri A, et al. Health status and quality of life of elderly persons with severe hemophilia born before the advent of modern replacement therapy. J Thromb Haemost. 2009;7(5):780-786.

Tencer T, Friedman HS, Li-McLeod J, Johnson K. Medical costs and resource utilization for hemophilia patients with and without HIV or HCV infection. J Manag Care Pharm. 2007;13(9):790-798.

van den Berg HM, De Groot PH, Fischer K. Phenotypic heterogeneity in severe hemophilia. J Thromb Haemost. 2007;5(Suppl 1): 151-156.

Walsh CE, Batt KM. Hemophilia clinical gene therapy: brief review. Transl Res. 2013;161(4):307-312.

Youjin S, Jun Y. The treatment of hemophilia A: from protein replacement to AAV-mediated gene therapy. Biotechnol Lett. 2009;31(3):321-328.

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            Review Date: 12/6/2014  

            Reviewed By: Steven D. Ehrlich, NMD, Solutions Acupuncture, a private practice specializing in complementary and alternative medicine, Phoenix, AZ. Review provided by VeriMed Healthcare Network. Also Reviewed by the A.D.A.M. Editorial team.

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