Hemophilia

Hemophilia

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.

The blood of someone with hemophilia will not clot normally. Bleeding may occur spontaneously or following injury.Hemophiliaoccurs in 2 forms, hemophilia A and B. In both forms, a gene is defective. The defective gene interferes with the ability of the body to produce the clotting factors that allow for normal clotting. The result is a tendency for abnormal, excessive bleeding.
·  Hemophilia A occurs in 1 in 10,000 people. Hemophilia B occurs in 1 in 40,000.
·  With either disorder, you may show a mild form in which bleeding occurs only under severe stress, such as major injury.
o  Moderate cases rarely will have spontaneous bleeding but will bleed after surgery or trauma.
o  Severe cases will exhibit spontaneous bleeding-that is, bleeding without any recognizable trauma. Spontaneous bleeding can occur in any part of your body, but it is usually in the joints of the fingers, wrists, feet, and spine.
 
Hemophilia Causes·         
Men have only one X chromosome. If that chromosome carries the abnormal hemophilia gene, the man will have the disease hemophilia. Both hemophilia A and B are linked to the X chromosome, which means they primarily affect men.

• Women have two X chromosomes. Even if one of the X chromosomes carries the defective gene, the normal gene on the other X chromosome will protect the woman from hemophilia. The gene does not affect them, but they carry it and pass it on to their children.
• If a woman is a carrier, she has a 50% chance that her sons will have hemophilia. Likewise, she has a 50% chance that her daughters will be carriers of hemophilia. This assumes that the woman's partner is not a hemophiliac.
• A man who has hemophilia has a 100% chance that his daughters will be carriers, since they must inherit the defective x chromosome from the father. His sons will not be affected if the mother is not a carrier.
• ·The transmission of this gene to offspring accounts for 70% of the cases of hemophilia. The remaining 30% occur from spontaneous changes in genes responsible for causing hemophilia.

                        
Hemophilia Symptoms· 

•  If a toddler has hemophilia, bleeding often results from falls. The bleeding may repeat if the fall disrupts a clot.
•  Blood in the urine (hematuria) commonly occurs with hemophilia.
• Many people will have microscopic blood in urine, not visible with the naked eye.
• Gross hematuria, blood you can see in urine, also is very common and may mean a bladder infection.
• You cannot see bleeding into muscle tissue and joints if you have hemophilia. But you will have pain and may see swelling.
• Bleeding into a muscle usually follows trauma. Common sites are the thigh,calf, and forearm.
• Bleeding into joints is the most crippling aspect of hemophilia as well as the most common site. The disease most commonly affects the knee followed by the elbow, ankle, shoulder, and wrist.
• You may feel a warm prickly sensation before you develop pain and swelling in the joint. The degree of swelling does not match the severity of your bleeding. You may be bleeding significantly but show only a little swelling.
• Bleeding into a joint not only makes that joint more likely to bleed in the future but also leads to progressive stiffness. This joint, which is now more prone to re-bleeding, is called the target joint.
• Bleeding into the central nervous system can be life threatening. Usually only severe hemophiliacs exhibit such bleeding, but it may occur in both moderate and mild hemophilia. Bleeding may occur in or around the brain (intracranial) or into the spinal cord (intraspinal), depending on the situation.
• Injury to your head or spinal column normally causes this bleeding. Your injury may seem minor.
• Adults are more prone to having intracranial bleeding without injury (spontaneous bleeding), accounting for nearly 50% of the cases.
• Headache, nausea, vomiting, and seizure often accompany bleeding into the brain.
• Backache or even paralysis can accompany bleeding into the spinal column.

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

• Nose bleeds

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.


When to Seek Medical Care·  

• Call your doctor after any significant physical trauma.
• Call your doctor also if you cannot control external bleeding with simple pressure.
• Because you may have internal as well external bleeding, always err on the side of safety and call your doctor.
• Be particularly concerned about bleeding into your joints or your central nervous system because of long-term complications and the possibility of death
• Because hemophilia treatment involves blood products, you often may need to be treated in an emergency department or other health care facility, especially if you have severe hemophilia.
• Your doctor should evaluate any head or spinal trauma.
• A severe hemophiliac should be evaluated at a hospital's emergency department for any bleeding whatsoever, because his or her blood will not clot adequately on its own in these situations:
• Oral bleeding
• Bleeding from skin that does not stop with simple pressure
• Bleeding from muscles and joints
• Any person with hemophilia who has significant trauma anywhere on the body should be evaluated at a hospital regardless of the severity of the disease
• Treatment Options:

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.

Exams and Tests 

• A family history of bleeding disorders aids in diagnosing hemophilia. But certain tests help quantify the disease.
• Pronounced bruising at childbirth or bleeding with circumcision may suggest a case of severe hemophilia.
• A moderate case of hemophilia may become apparent during the toddler years when falls are common.
• A mild case may not become evident until adulthood when you need surgery.
• Blood tests can be performed if you have any reason to suspect hemophilia.
• Blood may be checked directly for certain factors.
• Test results will be low depending on which form of hemophilia you have.
• In either case, your activated partial thromboplastin time (aPTT), a measurement of the clotting of blood, will be prolonged.

Hemophilia Treatment-Self-Care at HomeMost often people with hemophilia require medical treatment if bleeding or an injury occurs. You can take the following simple actions at home.

• Avoid aspirin and anti-inflammatory agents such as ibuprofen (Advil) because they may further interfere with blood clotting.
• If you have blood in your urine, drink plenty of fluids to ensure hydration.
•  Apply direct pressure to any site at which you are bleeding externally.
•  Apply ice and put a splint on affected joints after bleeding to provide relief from symptoms.
•  If you have the training on the disease process, you can give yourself factor replacement therapy. But you should do so under consultation from your doctor
• MedicationsTreatment of hemophilia aims to stop your bleeding. Doctors stop bleeding either by overcoming the deficiency in the clotting factors or by aiding in blood clotting.
• Giving a medicine called DDAVP (Octostim) may increase levels of Factor VIII (8) temporarily. But the medication will not be effective in severe cases of hemophilia or in hemophilia B.
• Aminocaproic acid (Amicar) and tranexamic acid (Cyklokapron) assist your clotting by slowing down the ongoing destruction of clots. These medications are useful in oral bleeding in either hemophilia A or B.
• You may be given an IV infusion of factor.
• You are given purified Factor VII or IX (9) depending on the type of hemophilia you have.
• Doctors determine the amount to give you by where your bleeding occurs and how much you weigh. The site of your bleeding also will determine the number of days you must be given the factor.

Outlook 
With proper medical care, people with hemophilia can expect to live full and productive lives. Yet complications still occur.
During the late 1970s through 1985, up to 60% of severe hemophiliacs had contracted the HIV virus (the virus that causes AIDS) from blood products. Because of the development of genetically engineered factor and improved purification processes, no case of HIV transmission from clotting factors has been documented since 1986.

• Those using blood-derived products are still at risk for getting hepatitis.
• Hepatitis A can resist some purifying methods, but no hepatitis C transmission has been reported since 1997.
• Doctors recommend that all people with hemophilia receive the hepatitis B vaccine.
• Despite current treatments, people with hemophilia still undergo degenerative changes due to bleeding in the joints.
• When repeated bleeding occurs, chronic swelling results in that joint. The swelling leads to degeneration of cartilage and bone.
• Ultimately this process will cause chronic joint stiffness and pain.

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.

                                                                                                                       Courtesy includes : Dr. Troy S Cutler, MD, also University of Mary Land Medical Center