Introduction:

Hemophilia is an inherited disease in which your blood does not clot. People with hemophilia lack or 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. About 17,000 people in the U.S. have the condition.

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 (mean age of 3 years) 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 moderate-to-severe 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. 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), as 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 have learned self hypnosis need far fewer blood products over an extended period of time (2 - 3 years) than those who have not learned 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. However, 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, but research is needed in this area. Do not take vitamin K supplements without first talking to your doctor.

Herbs

No studies have examined the value of herbs for hemophilia specifically, and 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 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, or may have fears of 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 - 60) are infected with HIV. Elderly patients with hemophilia may have more co-morbidities and problems with daily living, but similar cognitive status as age-matched controls.

Following Up:

Your health care provider will want to see you every 6 - 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.