Hemophilia is a bleeding disorder that prevents blood from clotting normally due to a lack of blood-clotting proteins. Patients may bleed longer after an injury. They may also require special care to prevent more serious complications.

About 70% of hemophilia cases are inherited. This means a parent who either has hemophilia or carries the gene passed it on to the child. In the remaining 30%, hemophilia occurs where there is no family history of it. This is usually associated with pregnancy, autoimmune conditions, cancer, multiple sclerosis, and/or drug reactions.

The most common types of inherited bleeding disorders are hemophilia A, hemophilia B, and Von Willebrand disease. Patients with hemophilia A lack sufficient levels of clotting factor VIII, and patients with hemophilia B lack sufficient levels of factor IX.

Symptoms depend on how much clotting factor is missing from the individual’s blood. Those with little to no clotting factor experience frequent, prolonged bleeding. These episodes may occur as often as twice a week and require clotting factor infusions. Those with a higher percentage of clotting factor may not experience any symptoms until a major injury occurs or they undergo a surgical procedure.

Treating hemophilia requires increasing or replacing factor levels. Prolonged bleeding episodes are treated with infusions to replace and enable blood to clot more effectively. Other therapies may also help the body produce more of the missing factor.

Those with severe hemophilia may prevent bleeding or reduce their severity through routine prophylactic infusions. Infusions can be received in a specialized treatment center, through a home-nurse visit, or by self-infusing. Many of our patients self-infuse for the convenience and freedom it provides.

Most cases of hemophilia are genetic or inherited (passed down from parent to child). The “hemophilia gene” or genetic mutation responsible for clotting factor deficiencies is found on the X chromosome, making hemophilia an X-linked disorder. Males, who have just one X chromosome, are much more likely to inherit hemophilia than females, who have two X chromosomes.

As an X-linked disorder, hemophilia is only inherited if all X chromosomes have the genetic mutation. For a male, who only has one X chromosome, the chance of inheriting hemophilia is 50% if his mother has the defective gene. For a female to inherit hemophilia, she must receive the hemophilia gene from her mother and her father must also have the disease.

A female with the hemophilia genetic mutation is called a carrier. While a carrier does not have hemophilia, her male children will have a 50% chance of inheriting hemophilia and her female children will have a 50% chance of becoming carriers themselves.

Sometimes hemophilia occurs spontaneously, meaning it is not passed down from parent to child. When this happens, hemophilia is classified as an autoimmune disorder where the body mistakenly attacks clotting factors.

Hemophilia is diagnosed from blood samples that measure the level of clotting factors present in the blood. Those with low levels of clotting factor VIII are diagnosed with hemophilia A. Those with low levels of clotting factor IX are diagnosed with hemophilia B.

The severity is linked to the amount of clotting factor missing from the blood. Normal factor levels range from 50%-150% (measured in international units per milliliter of blood, 0.50-1.5 IU/ml). Those with mild hemophilia have a factor level between 5%-40% (0.05-0.40 IU/ml). Individuals with moderate hemophilia have a factor level between 1%-5% (0.01- 0.05 IU/ml). Those with severe hemophilia have a factor level of less than 1% (0.01 IU/ml).

People with moderate to severe hemophilia are usually diagnosed as infants or young children. Patients with mild hemophilia may not be diagnosed until they undergo a dental or surgical procedure that results in prolonged bleeding.

Pregnant women with hemophilia or who are carriers usually undergo screening to determine if their unborn child has the disease. Prenatal testing can be performed between 11-14 weeks through chorionic villus sampling, or between 15-20 weeks by obtaining a fetal blood sample.

Hemophilia impacts every aspect of a patient’s life. We offer a holistic approach to treatment and disease management. We provide the right solutions for meeting its challenges. A patient’s treatment team includes skilled and educated medical staff. This includes hematologists, physical therapists, dentists, and health professionals like the Fidelis Specialty Pharmacy staff. We assist with health insurance matters and obtaining treatment.

Von Willebrand (VW) disease is a bleeding disorder which occurs when the VW factor is either deficient, abnormal, or absent. VW factor is a protein that helps blood to clot. This is vital for bleeding to stop. VW disease is the most common bleeding disorder. In most cases, it is genetic and passed on from parent to child.

VW occurs equally in males and females but can be more severe in women due to bleeding from menstruation and childbirth.

VON WILLEBRAND DISEASE TYPES

There are three types of von Willebrand disease: 1, 2, and 3. Knowing which type a patient has can assist in obtaining appropriate and effective treatment.

TYPE 1

Type 1 is the most common type. People with Type 1 have lower than normal levels of VW factor.

TYPE 2

People with Type 2 have enough VW factor, but it doesn’t function properly.

TYPE 3

Type 3 is the rarest and most severe type of VW disease. Patients have very little or no VW factor in their blood. They also have low levels of factor VIII, the clotting factor missing in hemophilia A.

SYMPTOMS

Symptoms vary greatly from person to person. Some individuals have no symptoms at all. Others may have moderate to very severe bleeding complications. When symptoms first appear, they also vary from infancy to adulthood. Symptoms may include persistent and frequent nosebleeds or blood in the urine or stool. Additional symptoms include easy bruising, excessive bleeding from an injury, surgery, or minor cut, and bleeding from the gums. For women, symptoms can include a heavy period, the presence of large blood clots, and/ or longer than normal bleeding after childbirth. Anemia, fatigue, and shortness of breath are other possible symptoms of VW disease.

DIAGNOSIS

Anyone with the above symptoms should go to the doctor immediately. In addition to exploring the family’s medical history, the doctor will perform a physical exam and have blood drawn for laboratory analysis to determine the level and efficacy of the VW factor.

While an individual may not experience symptoms, the faulty gene can still be passed on to children. A child whose parent is a carrier for VW should be checked for the disease. Early diagnosis is vital for a healthy, active, and normal life.

TREATMENT

Treatment focuses on stopping or preventing bleeding episodes. This is done by using medications that assist with blood clotting. Depending on the diagnosis, treatments may be administered orally, through injections, by nasal spray, or applied topically. In mild cases, medication may only be required for surgery or dental work.

Common von Willebrand disease treatments include:

VW factor production stimulation

• Desmopressin (DDAVP, Stimate)

Typically used in Type 1 mild to moderate VW disease

Coagulation factors to replace low or missing VW factor

• Recombinant von Willebrand factor (Vonvendi)
• Antihemophilic factor/von Willebrand factor complex (Alphanate, Humate P, Wilate)

Antifibrinolytics to stabilize clots

• Aminocaproic acid (Amicar)
• Tranexamic acid (Cyklokapron, Lysteda)

Contraceptives/estrogen to reduce menstrual bleeding severity

• The estrogen that is contained in birth control pills can increase VW factor and factor VIII activity can also help control bleeding that occurs with menstrual bleeding.

Topical treatments for external injuries

• Fibrin sealant (Tisseel VHSD)

MANAGING SYMPTOMS

Actively managing symptoms leads to better outcomes. This includes following treatment plans laid out by doctors or specialists, taking medications consistently, and obtaining infusions when needed.

Although there are many developments in gene therapy, there is still no cure for hemophilia. With the right care and support, patients can lead long and healthy lives. From preventative treatments to replacement therapy, our team of experienced pharmacists and registered nurses can create a customized care plan.

We are here to help 24 hours a day. Call the Fidelis team at (866) 643-2042 to discuss the best course of action for your family.

Regular physical activity offers great benefits to bleeding disorder patients. In a study by Ruth Mulvany, PT, DPT, MS, 20 bleeding disorder patients between 7 and 57 years old took part in a supervised exercise program for six weeks. Before the study, 65% of participants reported participating in minimal exercise and 50% indicated a fear of exercise-induced bleeding, pain or physical impairment. During the study, each patient participated in an active program with strength, flexibility, and cardiovascular training. Only positive changes resulted. No exercise-induced injuries, pain, edema, or bleeding episodes were reported. Significant improvements occurred in joint motion, strength, and distance walked in six minutes. The greatest gains were among the individuals with the most severe joint damage and coexisting illness. The benefits of moving your body through exercise are worth considering! “In certain cases, exercise can be as effective as antidepressants when treating depression,” shares Lawrence Henry, Pharm. D, BCACP, CSP Pharmacist at Fidelis Specialty Pharmacy.

REDUCED

• Anxiety and depression
• Weight gain
• Fatigue

IMPROVED

• Cardiovascular fitness
• Muscular fitness
• Bone health
• Body composition/ healthy weight

• Cognitive function

• Academic performance

• Sleep
• Self-confidence

• Energy

When it comes to bleeding disorders and sports, there is no standard rule of thumb. Every activity is different. Decide what is best for you based upon your doctor’s advice. Weigh the potential risk of the activity with your desire to participate. As you get older, some sports become more physical and riskier. For example, soccer and basketball are often safer for young children because there is less physical contact. But these sports can result in serious injury in teens and adults.

Learning to self-infuse clotting factor is an important milestone. This can be an important step to child’s independence and a big relief to caregivers.

Most experts agree that by age nine a child may be ready. Some kids may be eager to start, while others may need more time. The key is creating consistent and clear communication with your healthcare team. At Fidelis, we create a dialogue with the child, their parents, nurse, social worker, and hematologist. Together, we can map out a plan for success.

Here are some things to consider that may indicate that your child may be ready:

• Do they have a chore that they manage without help?
• Can they use a calendar and logbook? Do they understand when their next infusion will be?
• Do they like to set goals and achieve them?
• Do they stay calm during an entire infusion?
• Do they know the name and severity of their bleeding disorder? Do they know their medication names, doses and when to take them?
• Can they name all the supplies needed? Including the syringe, factor, gloves, tourniquet, sharps container, cotton swabs?
• Do they understand the treatment’s product label? This includes the medicine’s name, dose, and expiration date.
• Do they help to prepare the equipment and clean the skin?
• Can they mix their factor correctly on their own?
• Can they find a vein easily?
• Are they pushing the infusion and marking it in a log?
• Can they troubleshoot if something goes wrong?

For more information on self-infusion, visit www.hemaware.org or call the Fidelis team to discuss the best course of action for your family.

The primary symptom is excessive external or internal bleeding. This may include frequent nosebleeds, heavy bleeding from an injury, bleeding from dental or surgical procedures, and unusual bleeding after a vaccination.

Symptoms of internal bleeding can include blood in the urine or stool, large bruises, joint pain, and/or swelling. In cases of severe hemophilia, the brain may bleed spontaneously, resulting in symptoms such as double vision, fatigue, vomiting, and prolonged headache.

MILD HEMOPHILIA

People with factor levels ranging from 5%-40% (0.05-0.40 IU/ml) often do not experience symptoms. Mild hemophilia accounts for about 25% of people who have the disease.

MODERATE HEMOPHILIA

Those with factor levels between 1% and 5% (0.01-0.05 IU/ml). Roughly 15% of people with hemophilia experience moderate symptoms.

SEVERE HEMOPHILIA

These patients have blood with less than 1% clotting factor activity (0.01 IU/ml). These patients can experience spontaneous, frequent bleeding episodes of 1-2 times a week.

PREVENTING COMPLICATIONS

A proactive approach is best for long-term health. By making healthy choices and carefully adhering to treatment plans, patients will enjoy a better quality of life.

Learn more about how the services provided by Fidelis Specialty Pharmacy support hemophilia patients to help them achieve the best possible treatment.

Uncontrolled bleeding can cause severe damage. These guidelines can help avoid potential bleeding episodes and ensure proper treatment.

GENERAL SAFETY GUIDELINES

• Wear protective gear before riding a bicycle, skating, etc.
• Keep a seatbelt on during car rides.
• Wear a medical bracelet.
• Keep emergency contact information easily accessible.

TREATMENT GUIDELINES

• Follow your prescribed treatment plan.
• Maintain a prophylactic infusion schedule.
• Have enough factor on hand to last for at least one week.
• Properly storing and rotating your factor helps ensure that the factor you have at home does not expire before you have a chance to use it.

EMERGENCY GUIDELINES

Emergencies can happen despite taking safety precautions. Preparing for an emergency is important for timely intervention.

• Know the symptoms of spontaneous bleeding episodes and what to do.
• Seek medical attention for head or neck trauma.
• Have emergency procedures on hand.

TREATMENT ADVANCES

By managing symptoms, taking preventive treatments, and making healthy lifestyle choices, patients can live long and full lives. With comprehensive approaches to treatment, prevention, and self-infusion, patients have more freedom and independence than ever before. Learn more about our treatment approach and the benefits of home infusion and self-infusion.

COMMUNITY GROUPS

Community groups offer support and encouragement for patients and their loved ones. Fidelis proudly partners with “Powering Through.” This organization hosts speakers to address how to overcome living with life’s challenges. We also support “Hope for Hemophilia,” a philanthropic organization that provides assistance for patients in need.

The two most common types of inherited hemophilia are hemophilia A and hemophilia B. The type is determined by which blood clotting factor a person is missing or is deficient in. Hemophilia A patients have low levels of clotting factor VIII and hemophilia B have low levels of clotting factor IX.

BLOOD CLOTTING FACTORS

Blood clotting factors are proteins that stop bleeding. After a blood vessel is damaged, the body releases chemical signals to aid in forming a clot using clotting factors to control and stop the bleeding.

The level of a clotting factor deficiency determines how severe a patient’s symptoms are and what treatment regimen is needed. Those with a relatively mild clotting factor deficiency may only need treatment when undergoing dental or surgical procedures. Those with blood with very low levels of clotting factor may need regular infusions and other treatment to prevent severe hemophilia complications.

HEMOPHILIA A

The most common type of hemophilia. Patients have low levels of factor VIII. Hemophilia A occurs in approximately 1 in 5,000 live births and affects mostly males. Roughly 20,000 people in the United States have hemophilia A.

HEMOPHILIA B

Also known as Christmas disease. This occurs when levels of clotting factor IX are absent or deficient. Considerably rarer, this occurs in about 1 in 30,000 live male births and is about one fifth as common as hemophilia A.

HEMOPHILIA C

Typically, a milder version and often affects individuals of Jewish Ashkenazi descent. Hemophilia C occurs in both sexes.

TREATMENT OPTIONS

Treatment depends upon the type and severity of the disease. Individuals with mild hemophilia may only need treatment before a surgical or dental procedure. Those who have severe hemophilia may require routine infusions.

For individuals with missing or low levels of a particular clotting factor, treatment involves replacing the factor intravenously as needed to stop a bleeding episode in progress. They may also require routine factor infusions to prevent bleeding episodes from occurring.

Hemophilia treatment plans can be therapeutic to treat current symptoms or prophylactic to prevent symptoms from developing.

PROPHYLACTIC HEMOPHILIA TREATMENTS

Routine clotting replacement treatments are often recommended for those with severe hemophilia to prevent bleeding episodes. Replacement treatments are performed either at treatment centers or at home using self-infusion.

ADDITIONAL TREATMENT OPTIONS

Other treatment options that may help manage symptoms and prevent bleeding episodes may include:

• Hormone drugs to stimulate clotting factor production
• Antifibrinolytics to keep already-formed clots from breaking down
• Topical treatments to promote clotting
• Physical therapy for joints damaged by internal bleeding

Patients who manage their hemophilia proactively by maintaining a healthy lifestyle and obtaining preventative treatments have a better long-term prognosis than those who don’t. To learn more about which hemophilia treatment options are right for you, including self-infusion and home infusion, we invite you to speak with a patient support specialist at Fidelis.