Hemophilia

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
• Nosebleeds

What Causes It?

• Hemophilia is a genetic disorder.
• Mutations in the genes for clotting factors VIII (hemophilia A) or IX (hemophilia B) cause low levels of these factors, which result in defects in the blood clotting process.
• Hemophilia mostly affects men. Women rarely have the disease, but they are carriers of the condition and can pass it on to male children. However, about 30% of patients with hemophilia have no family history of the disease. In those cases, it seems hemophilia occurs as a result of spontaneous mutations.

Who's Most At Risk?

In most cases, hemophilia is inherited. Having a family history of hemophilia increases the risk for hemophilia. The daughters of men with hemophilia will be carriers. However, only about half of the sons of women carriers will have hemophilia. This happens because the genes responsible for hemophilia are on the X chromosome.

What to Expect at Your Provider's Office

Health care providers usually detect 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. In many cases, hemophilia is not detected until adulthood, during trauma like a tooth extraction or following surgery.

During a physical examination, your provider will take into account the following:

• Family history.
• Limited joint movement, joints that are warm, enlarged and with injuries.
• Laboratory tests for low or missing clotting factors, coagulation tests, and genotyping.
• Computed tomography scans.
• Magnetic resonance imaging (MRI) to find bleeding in the joints.

Treatment Options

Prevention

Hemophilia cannot be cured however, some complications can be minimized. Patients who take preventative measures early start(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).
• Due to the frequent need for blood products, people with hemophilia are at increased risk for bloodborne disease, including hepatitis and HIV. Precautions include using recombinant clotting factors, as well as getting vaccinated (including infants) with the hepatitis B vaccine.
• In severe cases, 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 bleeding due to hemophilia is factor VIII or factor IX 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 in severe cases. 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 provider may prescribe the following medications:

• Factor VIII or IX replacement therapy. These may be derived from healthy people or recombinant products.
• 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 drugs desmopressin (DDAVP), aminocaproic acid, and tranexamic acid may be used to improve blood clotting.

Surgical and Other Procedures

Certain types of surgery may become necessary, including:

• Joint replacement
• Removal of an uncontrollable, expanding hematoma (partially clotted blood)

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 together with conventional care for certain symptoms. For example, some mind-body therapies may help reduce stress and anxiety.

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.

You should never use herbal therapies without your doctor's supervision. In addition, people with hemophilia should avoid the following herbs, which might 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.

Few studies have examined the effectiveness of specific homeopathic remedies for hemophilia. There is no evidence that homeopathy is effective for the treatment of hemophilia, its symptoms, or complications. Some people with hemophilia consider adding one of the following homeopathic remedies to their treatment regimen:

• Arnica
• Carbo vegetabilis
• Crotalus horridus
• Hamamelis
• Lachesis
• Millefolium
• Phosphorus
• Secale

Acupuncture is not recommended for people with hemophilia because of the risk of bleeding.

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 provider to develop a program that is best for you. You should use the routine for at least 6 to 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. People who do not receive factor replacement therapy face many complications. Additionally, some people treated with blood products for a long time may become resistant to treatment. This can occur because their immune system starts producing inhibitor antibodies that neutralize the clotting factors they receive. People with severe hemophilia are at higher risk of developing this type of reaction.

Complications of hemophilia include:

• Joint destruction
• Bleeding in the brain
• Complications related to treatment (blood clots, inhibitor antibodies, infectious diseases)

People with hemophilia are at increased risk for blood-borne infectious diseases, such as hepatitis B, hepatitis C, or HIV. Although contracting HIV from blood products is rare nowadays, about one third of adults with hemophilia are infected with HIV.

Following Up

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

Supporting Research

Benson G, Auerswald G, Dolan G, et al. Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management. Blood Transfus. 2017:1-9. PMID: 29328905 www.ncbi.nlm.nih.gov/pubmed/29328905.

Bergquist PE Therapeutic homeopathy. In: Rakel D, ed. Integrative Medicine. 4th ed. Philadelphia, PA: Elsevier; 2018:chap 115.

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. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 135.

Mariani G, Konkle BA, Kessler CM. Inhibitors in hemophilias. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 136.

Peyvandi F, Garagiola I, Young G. The past and future of haemophilia: diagnosis, treatments, and its complications. Lancet. 2016;388(10040):187-97. PMID: 26897598 www.ncbi.nlm.nih.gov/pubmed/26897598.

Ragni MV. Hemorrhagic disorders: coagulation factor deficiencies. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 174.