Hemophilia Patient & Family Handbook

A Handbook for Families

Hemophilia

HEMATOLOGY SERIES

A Handbook for Families

Hemophilia

HEMATOLOGY SERIES

HEMOPHILIA A HANDBOOK FOR FAMILIES

Written by Chris Guelcher, MS PPCNP-BC RN-BC

Content Reviewer 2018–2019 Steering Council

Parent Reviewer Robin Huskie

This handbook is published by the Association of Pediatric Hematology/Oncology Nurses (APHON) for educational purposes only. The material has been developed by sources believed to be reliable. The material is not intended to represent the only acceptable or safe treatment of hemophilia. Under certain circumstances or conditions, additional or different treatment may be required. APHON makes no warranty, guarantee, or other representation, expressed or implied, as to the validity or sufficiency of the treatments or related information contained in this handbook.

n WHAT IS HEMOPHILIA? The blood clotting system is made up of proteins that work together to prevent too much bleeding or too much clotting. There are a number of proteins (factors) that must work together to form a fibrin clot, which keeps blood from leaking out of the vessel. Hemophilia is an inherited bleeding disorder. Hemophilia occurs when one of the factors needed to form a clot is missing or does not work well. Blood may flow out of the body, for instance, from a cut or scrape or it may leak into tissue around the vessel, causing internal bleeding. Any type of trauma, such as falling and bumping the knee, can cause a bruise (hematoma). Bleeding into tissue can cause pain, swelling, and slow healing. A person with hemophilia does not bleed faster than someone without it, they bleed longer.

n WHAT ARE THE TYPES OF HEMOPHILIA? There are two types of hemophilia. Hemophilia A , also called classic hemophilia , is a shortage of Factor VIII (8). Hemophilia A is the most common form of hemophilia, occurring in 80% of people with hemophilia. Hemophilia B is a shortage of Factor IX (9) and is sometimes called Christmas disease after the first person diagnosed with this disorder. Hemophilia B occurs in 20% of people with hemophilia.

The normal range of Factor VIII and Factor IX activity is 50%–200%. There are different levels of factor activity in hemophilia. In severe hemophilia, the factor level is less than 1% or almost cannot be measured. Moderate hemophilia is a factor level of 1%–5%. Mild hemophilia is a factor level of 6%–49%. People with severe hemophilia may experience

spontaneous bleeding, or bleeding that starts with no obvious injury. The bleeding pattern in moderate hemophilia is a little harder to predict, but people with moderate hemophilia certainly are more likely to have prolonged bleeding with minor trauma and can develop joint disease with recurrent bleeding into the same joint. People with mild hemophilia are more likely to bleed as a result of trauma or surgery. They rarely have bleeding without injury.

n WHAT ARE SOME OF THE SYMPTOMS OF HEMOPHILIA?

Newborn Bleeding If there is a possibility that the baby may have hemophilia (because the mom is a suspected or known carrier), we recommend discussing the method of delivery with the obstetrician. The use of fetal scalp monitoring, forceps, or vacuum suction to assist with delivery should be avoided. If vaginal deliery is not in progress, transition to a C-section delivery is recommended. In addition, a scheduled C-section delivery

may be considered. Some babies with hemophilia may present with bleeding inside the skull (intracranial) after delivery. A head ultrasound should be used to check for any bleeding in the head after delivery. If hemophilia is suspected, circumcision should not be done until laboratory testing is completed. Some babies may be diagnosed with hemophilia if prolonged bleeding occurs after being circumcised or being pricked in the heel for blood tests. Bruising Young children with hemophilia often get bruises as they learn to crawl and walk, though these bruises usually do not need special treatment. Bruises can be seen on the chest or under the arms where caregivers pick them up. Sometimes these children are suspected of having been abused. When this happens, testing of Factor VIII and IX levels can show that the child has hemophilia. Some parents add padding to clothing or use knee/elbow pads to minimize bruising. Minor Cuts and Scrapes Minor cuts and scrapes can be treated with normal first aid, but bleeding inside the body is more of a problem. If a cut is deep enough that stitches or staples are required, factor replacement may be necessary. Joint Bleeding Bleeding episodes happen more often as children become more active. The most common type of bleeding in children with hemophilia is joint bleeding. Children may feel “bubbling” or “tingling” in a joint. Young children may not realize that this is an early sign of bleeding. If they are not treated for the bleed at this point, they will start to feel pain. When children with hemophilia have pain in a joint, they usually try to protect the joint by holding it in a flexed or bent position that is more comfortable. If you touch the area of the body where there is a bleed, it may feel warm to the touch. If the bleed goes on for a long time, you may notice swelling. You may not see any bruising because the bleeding is going on inside the joint. If you are not sure whether your child is bleeding into the joint, do not force them to move the affected arm or leg because this may cause more pain. Sometimes it is helpful to compare the affected limb to the one on the other side.

Muscle Bleeding Bleeding often can occur in the muscles. Early signs of a muscle bleed might include fussiness in an infant

or toddler or a refusal to use one of the arms or legs. You may not see any bruising because the bleeding is inside the muscle. The muscle may feel warm to the touch. Over time, the muscle also can become swollen. Infants and toddlers may develop muscle bleeds in the buttocks because they often fall as they learn to stand and walk. Using two diapers at once for more padding may decrease this type of bleeding. Some caretakers also use a small piece of foam padding tucked into the toddler’s pants. Some muscle bleeding can be more serious. For instance, bleeding into the large muscle in the groin/abdomen (the iliopsoas) is serious. When children

have a bleed in the iliopsoas muscle, they sometimes have symptoms similar to appendicitis. Involving the team from the hemophilia treatment center (HTC) is critical to ensure appropriate diagnosis and management to minimize delays in care. Bleeding into the long muscles of the forearm, hand, or calf can put pressure on nerves and muscles. The pressure may cause severe pain or numbness below the bleed. This is called compartment syndrome . A compartment bleed is a limb-threatening bleed. It is important to report bleeding in these muscles or any of these symptoms to your child’s physician and seek treatment immediately. Mouth Bleeding Children with hemophilia can have prolonged bleeding from the mouth when they injure their teeth, lips, or gums. Prolonged bleeding also can happen when a child gets new teeth or loses teeth. Mouth bleeding may happen after an injury or a dental procedure such as an extraction or root canal. Mouth bleeding may seem worse because the blood mixes with saliva, making it look as though your child is losing more blood than they are. Applying cold with an icy drink or Popsicle (avoid red-colored drinks/ Popsicles) can help stop the bleeding. Bleeding that continues for more than 30 minutes should be reported to the hematologist. Having hemophilia does not cause dental problems. Children with hemophilia should have regular dental cleanings so they can avoid dental issues that may require invasive procedures or cause bleeding. Nose Bleeding Hemophilia does not cause nose bleeds, but having hemophilia may make nose bleeds from other causes (e.g., allergies, injuries) last longer. Nose bleeds usually are not serious. Applying pressure to the nose for 10–15 minutes, while your child sits upright, usually helps stop the bleeding. Contact your physician if bleeding continues after 20 minutes despite pressure and other first aid measures. If your child has frequent nose bleeds, it may be helpful to find out if there is a reason. If you can identify the reason for the bleeds, you may be able to decrease the number of bleeds. Eye Bleeding You should have any injury to your child’s eye examined by their physician right away. Bleeding in the eye could result in blindness. Neck and Throat Bleeding An injury to the neck or throat could lead to bleeding that will affect your child’s ability to breathe and swallow. Seek immediate medical care if your child’s neck becomes swollen or if they have trouble breathing or swallowing. If your child is vomiting bright red blood or what looks like coffee grounds, you should call your child’s physician immediately. Abdominal Bleeding Abdominal bleeding can go on for a long time before there are symptoms. Any trauma to the abdomen should be discussed with your child’s physician. Symptoms of bleeding in the abdomen, stomach, or intestines include vomiting a bright red or “coffee ground” substance. You also may see black or tar-like stools. Because the bleeding can go on for a long time, your child may look pale and feel tired. Your

child’s abdomen also may be tender when you touch it. If your child has any of these signs or symptoms, you should call their physician immediately.

Head Bleeding Any trauma to the head should be considered an emergency even if there are no symptoms. Symptoms are a late sign of bleeding. Head bleeds also can happen without any known trauma (spontaneously) in children with severe hemophilia. Some signs that you may see are headache, feeling tired, difficulty waking up, or vision changes. Other signs include nausea, vomiting, dizziness, crankiness, seizures, uncoordinated walking, slurred speech, and confusion. Contact your child’s physician about any head trauma before you see symptoms. You also should contact their physician if your child has any of these symptoms even if there is no history of trauma. n WILL THERE BE REGULAR LAB TESTING? Some children with hemophilia make very little, if any, factor protein of their own. The immune system is supposed to get rid of proteins that do not belong. Some children with hemophilia will make antibodies (inhibitors) to the factor protein that we give to treat bleeds. These inhibitors usually show up in the first 10–20 treatments. Some patients with severe Factor IX deficiency may have an allergic reaction to factor replacement as the first sign of an inhibitor. Therefore, children with hemophilia should be screened after every 3–5 exposure days to factor early on and then every year for inhibitors to Factor VIII or IX. An inhibitor test also should be done if your child is not showing improvement when you are treating a bleed or if your child has suspected bleeding despite regular factor replacement (prophylaxis). It is important to make sure that your child receives immunizations to protect them from viruses like Hepatitis A and B that potentially can be transmitted through blood proteins (we recommend talking to your HTC about the route of administration for immunizations—subcutaneous versus intramuscular). There are other viruses for which there are no vaccines available at this time.

Newer-generation products are produced without blood proteins. Some factor treatment products are made from human blood proteins. Other factor treatment products are stabilized in human blood proteins (albumin). Your child may have a screening test every year for Hepatitis C and HIV.

n WHO GETS HEMOPHILIA? Hemophilia is an inherited bleeding disorder. Genes (found in chromosomes) control the traits that each person inherits from their parents. Males have one X chromosome and one Y chromosome (XY). Females have two X chromosomes (XX). This pair of chromosomes determines the sex of the child. Each of these chromosomes contains hundreds of genes. Genes determine a person’s height, eye color, hair color, and blood clotting ability. Hemophilia is something a child is

born with and has for life. The gene that causes hemophilia is carried on the X chromosome. It is called a sex-linked disorder because that is the chromosome that determines a person’s sex.

How Is Hemophilia Inherited? The hemophilia gene is recessive, meaning it is a characteristic that can be overruled by more dominant genes. Because females have two X chromosomes, the recessive hemophilia X chromosome usually is “overridden” by the unaffected dominant X chromosome. That is why females rarely get hemophilia. However, when the dominant X chromosome overrides the recessive hemophilia X chromosome, the female becomes a carrier of the hemophilia gene. Because males only have one X chromosome, if they inherit the recessive X chromosome, then they will have hemophilia because they do not have the unaffected dominant X chromosome to overrule the one that carries hemophilia. Although hemophilia is passed down from parent to child, it may not be seen for several generations. If mothers had female “carrier” babies or no male babies with hemophilia, then it can look like there is no history of hemophilia in that family. This can easily happen because the recessive hemophilia X chromosome is being passed on to the next generation by female carriers. One other way that hemophilia can occur is from a spontaneous genetic mutation or modification (change) in the cell that happens for no apparent reason. The mutation (affected X chromosome) can occur in the mother when she is conceived or when her child is conceived. Cells can mutate as they are created. It is estimated that cell mutations could account for about 30% of those diagnosed with hemophilia. Once the mutation is there, the gene can be carried through or passed down to future generations. A father with hemophilia will give his Y chromosome to all of his sons and not his X chromosome (which will come from the mother). The Y chromosome is what makes babies males, and the mutation that results in the factor deficiency is on the X chromosome. The Y chromosome does not have the hemophilia gene so the sons of a man with hemophilia will not have hemophilia (if the mother does not carry the hemophilia gene) and will not pass it on to his children. The hemophilia stops there. A father with hemophilia will give the affected X chromosome to all of his daughters. The X chromosome is what makes them female, and because the X has the hemophilia gene on it, all of his daughters will be carriers. What Is a Female Carrier? A female carrier is someone who has an affected X chromosome, which she can pass on to her children. Carriers can have normal levels of factor or low levels of factor. Some female carriers may have factor levels low enough to fall into the hemophilia range. These women may have bleeding symptoms and require treatment themselves. Factor VIII levels can increase during pregnancy, but Factor IX levels are fairly stable. We recommend that all carriers have their factor levels checked so they know their level. The female carrier has a one in four chance (with each pregnancy) of having a son with hemophilia. There is also a one in four chance (each pregnancy) of having a daughter who is a carrier. If the fetus is male, there is a 50% chance the boy will have hemophilia. If the fetus is female, there is a 50% chance the girl will be a carrier. These odds apply for each pregnancy a woman carries. So, a woman could have four sons and none of them have hemophilia, or she could have four sons and all of them could have hemophilia.

Prenatal testing , or testing during pregnancy, can be done to determine if a fetus has hemophilia. Another way to determine if a child has hemophilia is to test a sample of umbilical cord blood immediately after birth. All newborns have somewhat low levels of Factor IX. This does not necessarily mean they have hemophilia B. Retesting should be done at 6–9 months for a more definitive answer. For families without a history of hemophilia, the diagnosis is made after a head bleed (cephalohematoma or intracranial); prolonged bleeding from a circumcision, the mouth, or a heel stick; or other lab draw when unusual raised bruises or large amounts of bruising are noted or a joint or muscle becomes swollen and painful. n WHAT TESTS AND PROCEDURES WILL MY CHILD NEED? If there is no family history of a bleeding disorder but your child has prolonged bleeding, screening tests may need to be performed. A prothrombin time (PT) is a screening test for some of the clotting factors. The PT should be normal based on age in a child with hemophilia. The partial thromboplastin time (PTT) screens for low factor levels that are seen in hemophilia. A prolonged PTT may mean that one of the factor proteins that cause hemophilia is low. If hemophilia is suspected, specific factor assay studies can be done right away. Blood can be taken from the umbilical cord or from the baby’s vein. The factor assay will be listed as a percentage. The percentage of factor protein will determine how severe the disease is. If hemophilia B is suspected (Factor IX deficiency) the results should be compared to levels that are normal for newborn babies. Factor IX levels are lower in new babies and go up in the first 6 months of life. If levels are lower than the normal range for a baby, it is likely that they have hemophilia. Repeat testing will not show a change in the level. Normal factor assay levels are between 50%–200%. It is important to know your child’s factor level because this will tell you how severe the hemophilia is and give you an idea of what type of bleeding to expect. Factor levels do not change as your child gets older. It is important to be aware that the newer nonfactor therapy treatment can affect laboratory testing. Clot- based tests like the PT and PTT, as well as Factor VIII and inhibitor levels, are not accurate if patients are on prophylaxis with a nonfactor therapy (bispecific antibody).

n HOW IS HEMOPHILIA TREATED? The main goal of treatment in hemophilia is to stop or prevent bleeding. Treatment given to stop bleeding is called on-demand , or episodic, therapy. Prevention of bleeding is referred to as prophylaxis , which is a planned treatment given on a regular

basis. It also can be used prior to a specific activity such as surgery, dental or medical procedures, sporting events, and school outings. Prophylaxis is given to minimize the long-term effects of repeated bleeding, which can lead to joint disease. Hemophilia results from decreased or absent amounts of factor (VIII or IX), so treatment can involve replacing the missing protein with factor concentrates. Newer therapies involve prevention of bleeding without replacement of the missing factor. Gene therapy appears likely to be a viable treatment option.

Factor Replacement There are a number of different factor concentrates on the market that fall into two categories: • Plasma-derived factor is made using human plasma donations. They are then purified to kill potential viruses. • Recombinant factor is made using human genes placed into other cells (Chinese hamster ovary cells, baby hamster kidney cells, or human em- bryonic kidney cells) that make human proteins Factor VIII or IX. They are then purified. Some recombinant factor products are modified to extend the time that they can stay in the body (extended half-life).

An international study of hemophilia A comparing plasma-derived factor and recombinant factor suggested that the rate of inhibitors was lower using plasma-derived factor (Manco-Johnson et al., 2007). Since 1997, none of the factor concentrates licensed in the United States have had a documented case of viral transmission. Your healthcare team will work with you to determine the best treatment product for your child, as well as the best schedule to give the drug. All factor concentrates are given intravenously (through an IV). This may be done using a butterfly needle or a central venous access device. You should discuss the benefits and risks of each type with your child’s healthcare team. Nonfactor Therapies In 2017, the U.S. Food and Drug Administration approved the first nonfactor therapy for hemophilia. A bispecific antibody that functions like Factor VIII in blood clotting has been approved to prevent bleeding (prophylaxis) in patients with hemophilia A with and without inhibitors. This medication is given as a sub- cutaneous injection (shot). This type of therapy is not meant to treat bleeding. Some nonfactor therapies, which work on the proteins that break down clots to prevent bleeding, are in clinical trials. Gene Therapy Clinical trials for this type of therapy use viruses to introduce functional Factor VIII and IX genes that express increased factor levels, thus decreasing the risk of bleeding and factor use. Bypassing Agents If patients develop inhibitors, they may not respond to factor replacement. Bypassing agents contain other factors that are intended to bypass the need for Factor VIII or IX. There are two bypassing agents that can be used to manage bleeding in children who have developed inhibitors: one product is made using blood that is donated and pooled (plasma-derived), and the other is manufactured using recombinant technology. Other Treatment Options People with mild hemophilia A (Factor VIII levels greater than 5%), including hemophilia A carriers with mild hemophilia, have other treatment options. These individuals may increase their factor levels using a product called desmopressin acetate (DDAVP). DDAVP can be given through an IV, subcutaneously

(under the skin, similar to insulin injections), or as a nasal spray. DDAVP can cause release of Factor VIII stored in cells that line the blood vessels. This medicine should not be used to treat severe or life- or limb-threatening bleeds. Often, a blood test called a DDAVP challenge is done to see if high enough levels of Factor VIII are achieved when this medication is used. Your healthcare team will teach you about side effects and how to use DDAVP correctly if it is prescribed for your child. The type of treatment that the doctor prescribes—on-demand versus prophylaxis—depends on several elements, including the severity of hemophilia and the amount of bleeding a person has. Other medical conditions may also be noted. Both on-demand and prophylaxis infusions can be done in different ways. Your treatment team will help you decide which option is best for your child. The National Hemophilia Foundation’s Medical and Scientific Advisory Council makes recommendations for treatment for hemophilia. They named prophylaxis as the treatment of choice for all persons with severe hemophilia A or B. A recent study compared treatment modes in severe hemophilia patients. In this study, patients who had prophylaxis showed significantly improved joint outcome scores (Manco-Johnson et al., 2007). Bleeding in hemophilia also can be treated using other methods. Antifibrinolytics are drugs used to slow the body’s clot-dissolving enzymes. These medications are particularly helpful for mouth and nose bleeding. Hormones can be used to control heavy menstrual bleeding in women with hemophilia and symptomatic carriers. Topical clotting agents may be used to treat nosebleeds, bleeding after some dental procedures, and small cuts or abrasions. Rest, ice, compression (using an ace wrap), and elevation (RICE) may be helpful when treating hemophilia. Your healthcare team will educate you about each treatment strategy when it is needed. One of the most important treatment strategies for individuals with hemophilia is comprehensive care. Comprehensive care is provided by a team of specialists, including a doctor, nurse, social worker, and physical therapist, who treat hemophilia. People with hemophilia are best treated with prevention and a team approach. Studies show that persons treated in comprehensive treatment centers have a lower risk of death. They also spent less time in the hospital and had better work and school attendance and fewer health complications than persons treated with a different source of medical care. New Therapies Researchers are evaluating various ways to introduce the hemophilia gene into hemophilia A and B patients, which will allow the body to produce more factor on its own. New ways to prevent bleeding without replacing Factor VIII and IX are also being studied.

n ARE THERE ANY TREATMENT-RELATED CONCERNS I SHOULD KNOW ABOUT?

Yes. As with all treatments, some side effects should be noted. Infusion of factor concentrates and subcutaneous injection of nonfactor therapy can cause local irritation at the site of infusion. Another concern with using factor concentrates is the development of an inhibitor. An inhibitor is an antibody. Antibodies form in everyone and are used by the body to fight infections and foreign proteins. The body can sometimes mistake infused factor as one of those foreign proteins, which causes inhibitor formation.

Inhibitors can develop in about 15%–30% of persons with hemophilia A and 1%–5% of those with hemophilia B. Although the rate of inhibitors is lower in hemophilia B, patients with severe disease can have serious allergic reactions to factor concentrates when they develop an inhibitor. For this reason, early factor infusions should be given in a medical facility. Inhibitors make treatment more difficult, and other strategies often are needed to stop or prevent bleeding.

n HOW OFTEN WILL MY CHILD NEED TREATMENT? How often your child will need to be treated depends on the severity of the deficiency, which treatment regimens they receive, and the number of bleeds they have. Some Factor VIII products may be given several times a week, others every few days. Some Factor IX products are given several times a week or every week or 2. Nonfactor therapy may be given subcutaneously every week, every 2 weeks, or every 4 weeks. Regardless of the type of treatment (prophylaxis or on demand), suspected bleeding should be evaluated. This is especially true when your child has a head injury. Head injuries are considered emergencies and you should seek medical care immediately. The amount of factor that your child will need depends on the type of bleed and desired increase in factor activity as well as your child’s weight. This depends on the seriousness of the bleed and is calculated using the child’s weight. Some bleeds, like mouth and nose bleeds, can be treated with anti- fibrinolytics such as aminocaproic acid or tranexamic acid. Your child will not need treatment for minor bruises, unless they increase in size and cause pain. Generally, a joint bleed will likely not need a dose as big as one given for a head bleed. If your child is receiving therapy as needed (on demand) and begins to have too many bleeds, your hemophilia care team may want to place your child on prophylaxis. This is the best method known for keeping joints healthy, so it is very important that you keep track of all bleeding episodes. If keeping a diary is difficult for you, speak with your hemophilia team. There are new ways to keep track of bleeds that might make it easier for you. n HOW CAN I WORK WITH MY CHILD’S HEALTHCARE TEAM? HTCs are located in cities across the United States and other countries. The goal of the HTC is to keep your child healthy and strong and to help limit problems from bleeding. The center provides specialty care and is available as a resource to your family’s regular doctor or dentist. They can help prepare your child for surgery or dental extractions. Your child’s HTC healthcare team can provide you with tips for keeping younger children safe. You and your child are also members of the treatment team. The staff needs your help to develop a plan of care that will keep your child healthy, active, and able to live successfully with the challenge of hemophilia. HTCs also can help daycare providers, teachers, coaches, and healthcare providers teach lessons and give out materials about hemophilia at your child’s school. Members of HTC care teams include • hematologists, who specialize in blood disorders • pediatricians, who care for infants, young children, and teenagers • nurses specializing in hemophilia care, who tend to coordinate with the treatment team and are

likely the people you will see most often • social workers, who assist with the issues of daily living and can help with adjusting to hemophilia and finding assistance (e.g., insurance, transportation, housing) • physical therapists, who work with your child on activity, exercise, and joint health • orthopedists, who are experts on bones and joints • dentists, who treat tooth and gum problems (There can be dentists at the HTCs who are very familiar with treating children with mouth bleeding problems. The HTC also may work with dentists in the community.) • genetic counselors, who are specially trained to help explain genetic testing, help identify poten- tial carriers, and coordinate safe delivery and testing of newborns. Speaking up for your child in the emergency room (ER) is perhaps one of the more important roles you have as the parent of a child with hemophilia. You must ensure that your child is seen promptly upon arrival. The ER has a process of picking which patients need to be seen the fastest. You must advocate for your child by educating the staff once you arrive. How do you respectfully advocate for your child in the ER? Make your trip to the hospital less stressful with some advance planning. • Visit the emergency department before your child needs to be seen. Many smaller hospitals may not see very many hemophilia patients. • Come prepared to teach the staff. Some will know more than others about hemophilia. Remem- ber that the staff you teach on the day of your advance visit may not be on duty at the time of your emergency visit. • Remind ER staff that nonfactor therapy will affect lab testing. Any clot-based testing (PT, PTT, Factor VIII, and inhibitor test) will be inaccurate. • Ask if they have a policy that allows you to bring factor with you in an unopened box. Some ERs will not allow patients to bring in factor. • When an unscheduled trip to the ER occurs, call your HTC on the way to the hospital. The profes- sionals can help smooth the process, educate the ER staff, and encourage speedy treatment of your child. • If you are going to the hospital, bring the contact information for your HTC team and your most recent clinic notes and recommendations. You should make a list of the things you want to take with you, like a favorite toy, game, or book. Bring water and warmer clothes for your child be- cause staying warm and hydrated will help make finding veins for infusions easier. • Talk with doctors and other healthcare providers about treatment, prevention of bleeding, and what to do in emergencies. • Take advantage of the care teams at the HTCs for education, support, and treatment. The social worker on the team can help with emotional issues as well as financial and transportation pro- blems and other concerns.

To find an HTC near you, go to the Centers for Disease Control and Prevention (CDC) website (www.cdc. gov/ncbddd/hemophilia/htc.html). For additional information contact HANDI, the National Hemophilia Foundation’s resource center, at 800.42.HANDI or handi@hemophilia.org.

n ARE MY FEELINGS NORMAL? WHAT CAN I DO ABOUT THEM? You have just been told your child has hemophilia. At first, you may want to wrap your arms around your child and not let go. Parents may feel shock, anger, fear, resentment, guilt, depression, panic, and confusion, to name a few. You’ll have questions: Will my child be healthy and have a normal life? How can I handle this? Even if a bleeding disorder runs in your family, the diagnosis and realization of it actually happening to your child can cause emotional stress. You cannot buy a book and learn everything about hemophilia overnight. It takes time. The feelings you are experiencing are legitimate and very real. Knowing what you can do to prevent and treat bleeds will empower you. Where do you start? Getting support from those who have been living with a bleeding disorder is a good first step. Understanding what lies ahead for your family and accepting that hemophilia is treatable is a step toward acceptance. Emotional overload is one way to describe how many parents feel when they bring their child home from the hospital. The most important thing to do upon diagnosis is to educate yourself. Make an appointment with the local HTC, read about hemophilia, contact your local hemophilia chapter, and ask your HTC for online resources. Sorting through the wealth of online information on hemophilia can be a daunting task. Your HTC can help you figure out what’s worth reading and what’s a waste of time. Once you choose an HTC, the staff can put you in contact with other parents of children living with hemophilia. There is a network of moms and dads who understand what you are going through and are available to help. You will not have all of the answers at once! It takes time. As a mother, father, or caretaker, you may wonder how you will manage your new role. You may need to learn to infuse factor intravenously or give subcutaneous shots. Parents can have a whirlwind of emotions, such as sadness, hurt, and anger at the diagnosis of hemophilia. Joe Caronna, whose son has hemophilia, writes that parents often may have different opinions on how to raise their child. One parent, usually the mother, is the protector. The other parent, most often the father, is trying to prepare the child for the real world. A child needs both protection and the encouragement to explore. It is important to communicate with each other what activities are considered safe and allowable before a situation arises. One parent doesn’t need to be perceived as the “bad guy,” always saying no. Your goal is to teach your child to make smart choices on his or her own. This may prevent children from doing something without asking because they expect you to say no, but they will not always be under parental supervision. It is important to recognize that, at some point, the time will come when they need to decide for themselves if an activity is safe. Empowering your child to make smart, safe decisions early on will relieve some of your stress when your child is on his or her own. Someday, you may even feel confident enough to send your child to a camp for children with bleeding disorders. With today’s treatments, hemophilia is a manageable condition. If you grew up with hemophilia in your family, you may remember the wheelchairs, crutches, hospital stays, and the things in life that were missed out on. This was back when hemophilia care and treatments were not what they are today. Since then, the world of hemophilia has changed for the better.

n HOW CAN I HELP MY CHILD? Teach your child about hemophilia using words and teaching methods that fit their age and stage of development. Use positive words and phrases about hemophilia and its treatment. Allow your child to share their thoughts and feelings about having hemophilia without judgment. Try to control how you express negative emotions when dealing with the challenges of raising a child with hemophilia. Because it is a genetic condition, many parents feel guilty, thinking that they gave the disorder to their child. Expressing this guilt to your child will affect their self-esteem. Find support to help you cope with negative emotions so that you will be better able to meet your child’s needs. You can help your child cope with factor infusions by making sure they are hydrated and warm prior to receiving the infusion. When possible, give your child realistic choices and duties before, during, and after the infusions. Your child will begin to learn and take control of their treatment and will develop self- esteem in the process. Try to allow your child to participate in as many normal childhood activities as possible. When possible, provide protective equipment for them to limit injuries and bleeding during their favorite activities. Use positive words to help your child focus on what they can do instead of what is not safe. Find and participate in local hemophilia support groups and activities. There may be a local chapter of the National Hemophilia Foundation or a First Step group. This will give you and your child the opportunity to meet others affected by hemophilia. Your child will realize that they are not alone in having hemophilia, which may help them develop coping skills for living with the condition. n CAN MY CHILD GO TO SCHOOL? Yes! Your child should go to school as regularly as possible. Sometimes they may need to use crutches or a wheelchair while at school to rest an injured body part. Work with your child’s school to obtain an individualized healthcare plan (504 plan) to ensure all their educational needs are met. Ask for help from the HTC staff to provide education for the school staff about hemophilia. They also can assist with challenges encountered in dealing with the school staff. HTC doctors, nurses, and social workers can provide support to ensure that your child gets the best possible education.

n WHERE CAN I GET MORE INFORMATION? Resources

CENTERS FOR DISEASE CONTROL AND PREVENTION (CDC) The CDC helps support HTCs. The network finds ways to treat and prevent complications from bleeding disorders. The CDC has established the Universal Data Collection Project to monitor blood safety and to conduct research. Basic Concepts of Hemophilia: A Self Study and Planning Workbook for Families with a New Diagnosis of Hemophilia : www.cdc.gov/ncbddd/hemophilia/documents/providerguide.pdf

CDC checklist for families to use in the event of a natural disaster or emergency: www.cdc.gov/ncbddd/ hemophilia/documents/familyemergencykitchecklist.pdf Hemophilia Treatment Centers (HTCs): www.cdc.gov/ncbddd/hemophilia/htc.html National Centers for Birth Defects and Developmental Disorders: http://www.cdc.gov/ncbddd/ hemophilia/people.html EMEDICINEHEALTH eMedicineHealth provides information on first aid, emergency care, and consumer health. www.emedicinehealth.com/hemophilia/article_em.htm

HEMOPHILIA FEDERATION OF AMERICA Phone: 202.675.6984

Toll Free: 800.230.9797 www.hemophiliafed.org

MEDLINE PLUS MedlinePlus gathers information from government health organizations to help answer health questions. MedlinePlus also has information about drugs, an illustrated medical encyclopedia, and the latest health news. www.nlm.nih.gov/medlineplus/hemophilia.html MEDICALERT FOUNDATION ® The MedicAlert Foundation provides information on how your child can get a medical-alert ID. www.medicalert.org/Main/ConditionsHemophilia.aspx NATIONAL HEART, LUNG, AND BLOOD INSTITUTE Diseases and Conditions Index (DCI). This online health index provides a quick and easy way to get complete and dependable information about heart, lung, and blood diseases and sleep disorders. www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html

THE NATIONAL HEMOPHILIA FOUNDATION Phone: 212.328.3700 www.hemophilia.org

WEBMD The WebMD staff works to provide the best health information available. www.webmd.com/a-to-z-guides/hemophilia-topic-overview

WORLD FEDERATION OF HEMOPHILIA USA www.wfhusa.org

The World Federation of Hemophilia (WFH) is an international not-for-profit organization. They are dedicated to improving the lives of people with hemophilia and related bleeding disorders.

References Manco-Johnson, M. J., Abshire, T. C., Shapiro, A. D., Riske, B., Hacker, M. R., Kilcoyne, R., . . . Evatt, B. L. (2007). Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. The New England Journal of Medicine , 357 (6): 535–544. Additional Resources Brown, R., & Cornett, J. (2002). The hemophilia handbook (4th ed.). Sandy Springs, GA: Hemophilia of Georgia. Butler, R. B., Crudder, S. O., Riske, B., & Toal, S. (Eds.). (2000). Basic concepts of hemophilia: A self-study and planning workbook for families with a new diagnosis of hemophilia . Atlanta, GA: Centers for Disease Control and Prevention. Canadian Hemophilia Society. (2010). All about hemophilia: A guide for families (2nd ed.). Montreal, Quebec, CA: Canadian Hemophilia Society. Christie, B. (Ed.). (2002). Nurse’s guide to bleeding disorders (3rd ed.). New York, NY: National Hemophilia Foundation. Hemophilia of Georgia. (1988). The hemophilia handbook . Sandy Springs, GA: Author. Kelley, L. (2007). Teach your child about hemophilia: From preschool to adolescence . Georgetown, MA: LA Kelley Communications. Mahlangu, J., Oldenburg, J., Paz-Priel, I., Negrier, C., Niggli, M., Mancuso, M. E., . . . Kruse-Jarres, R. (2018). Emicizumab prophylaxis in patients who have hemophilia A without inhibitors. The New England Journal of Medicine , 379 (9), 811–822. doi: 10.1056/NEJMoa1803550. National Hemophilia Foundation. (2016). Medical and Scientific Advisory Council (MASAC) recommenda- tion concerning prophylaxis. Retrieved from www.hemophilia.org/Researchers-Healthcare-Providers/ Medical-and-Scientific-Advisory-Council-MASAC/MASAC-Recommendations/MASAC-Recommendation- Concerning-Prophylaxis National Hemophilia Foundation. (2019). Steps for living. Retrieved from stepsforliving.hemophilia.org Oldenburg, J., Mahlangu, J. N., Kim, B., Schmitt, C., Callaghan, M. U., Young, G., . . . Shima, M. (2017). Emicizumab prophylaxis in Hemophilia A with inhibitors. The New England Journal of Medicine , 377 (9): 809–818. doi: 10.1056/NEJMoa1703068 Peyvandi, F., Mannucci, P. M., Garagiola, I., El-Beshlawy, A., Elalfy, M., Ramanan, V., . . . Rosendaal, F. R. (2016). A randomized trial of factor VIII and neutralizing antibodies in Hemophilia A. The New England Journal of Medicine , 374 (21), 2054–2064. doi 10.1056/NEJMoa1516437 Soucie, J. M., Nuss, R., Evatt, B., Abdelhak, A., Cowan, L., Hill, H., . . . Wilber, N. (2000). Mortality among males with hemophilia: Relations with source of medical care. The hemophilia surveillance system project investigators. Blood, 96 (2), 437–442. Soucie, J. M., Symons, J., Evatt, B., Brettler, D., Huszti, H., Linden, J., & Hemophilia Surveillance System Project Investigators. (2001). Home-based factor infusion therapy and hospitalization for bleeding compli- cations among males with hemophilia. Haemophilia, 7 (2), 198–206.

n IMPORTANT PHONE NUMBERS

n NOTES

8735 W. Higgins Road, Suite 300 Chicago, IL 60631 847.375.4724 • Fax 847.375.6478

info@aphon.org www.aphon.org

Manual para la familia

Hemofilia

SERIE HEMATOLOGÍA

Manual para la familia

Hemofilia

SERIE HEMATOLOGÍA

HEMOFILIA MANUAL PARA LA FAMILIA

Escrito por Chris Guelcher, MS PPCNP-BC RN-BC

Revisor de contenido 2018–2019 Steering Council

Revisor por parte de los padres Robin Huskie

Este manual ha sido publicado por la Association of Pediatric Hematology/Oncology Nurses (APHON) con fines educativos únicamente. El contenido ha sido desarrollado por fuentes confiables y no pretende ser el único tratamiento aceptable o seguro para la hemofilia. Es posible que bajo ciertas circunstancias o condiciones se requiera un tratamiento adicional o diferente. APHON no garantiza ni asegura, ni hace ninguna otra declaración, expresa o implícita, con respecto a la validez o suficiencia de los tratamientos o a la información relacionada contenida en este manual.

n ¿QUÉ ES LA HEMOFILIA? El sistema de coagulación sanguínea está compuesto por proteínas que trabajan en conjunto para prevenir el sangrado excesivo o la coagulación excesiva. Hay una serie de proteínas (factores) que deben trabajar juntas para formar un coágulo de fibrina, lo que evita que la sangre se salga del vaso sanguíneo. La hemofilia es un trastorno hemorrágico hereditario. Ocurre cuando uno de los factores necesarios para formar un coágulo falta o no funciona bien. La sangre puede salirse del cuerpo, por ejemplo, por un corte o raspón, o puede filtrarse hacia el tejido alrededor del vaso sanguíneo, causando una hemorragia interna. Cualquier tipo de golpe, como caerse y dañarse la rodilla, puede causar un hematoma (moretón). El sangrado dentro del tejido puede causar dolor, hinchazón y hacer que la curación sea más lenta. Una persona con hemofilia no sangra más rápido sino por más tiempo .

n ¿CUÁLES SON LOS TIPOS DE HEMOFILIA? Hay dos tipos de hemofilia. La hemofilia A, también llamada hemofilia clásica, en la que hay una escasez de Factor VIII (8); ésta es la forma más común de hemofilia, y la padece el 80% de las personas con hemofilia. La hemofilia B, en la cual hay una escasez de Factor IX (9), a veces es llamada enfermedad de Christmas, apellido de la primera persona

diagnosticada con este trastorno. La hemofilia B la padece el 20% de las personas con hemofilia. El rango normal de actividad de Factor VIII y de Factor IX es del 50% al 200%. Existen diferentes niveles de actividad de estos factores en la hemofilia. En la hemofilia grave, el nivel de factor es inferior al 1% o un nivel tan mínimo que casi no se pueda medir. En la hemofilia moderada el nivel de factor es del 1% al 5%, mientras que en la hemofilia leve el nivel de actividad va del 6% al 49%.

Las personas con hemofilia severa pueden experimentar sangrado espontáneo o sangrado que comienza sin una lesión evidente. El patrón de sangrado en la hemofilia moderada es un poco más difícil de predecir, pero las personas son más propensas a tener un sangrado prolongado con lesiones menores, y pueden desarrollar una enfermedad articular con sangrado recurrente en las articulaciones. Las personas con hemofilia leve tienen más probabilidades de sangrar como resultado de una herida o una cirugía, pero es raro que sangren sin haberse lesionado.

n ¿CUÁLES SON ALGUNOS DE LOS SÍNTOMAS DE LA HEMOFILIA?

Sangrado en recién nacidos Si existe la posibilidad de que el bebé tenga hemofilia (porque la madre es una portadora sospechosa o

declarada), se recomienda discutir con el médico el método del parto. Se debe evitar el monitoreo del cuero cabelludo fetal, el uso de fórceps o la succión por vacío para ayudar en el parto. Si el parto vaginal no está evolucionando bien, se recomienda contemplar una cesárea o se puede programar un parto por cesárea desde el principio. Algunos bebés con hemofilia pueden presentar sangrado dentro del cráneo (intracraneal) después del parto, por lo que se debe hacer un ultrasonido para verificar si hay sangrado en la cabeza después del parto. Si se sospecha que hay hemofilia, no se debe realizar la circuncisión hasta que se completen las pruebas de laboratorio. Algunos bebés pueden ser diagnosticados con hemofilia si se produce un sangrado prolongado después de ser circuncidados o pinchados en el talón para un análisis de sangre. Hematomas Los niños pequeños con hemofilia a menudo se hacen moretones cuando aprenden a gatear y a caminar, aunque estos moretones generalmente no necesitan un tratamiento especial. También pueden presentar moretones en el pecho o debajo de los brazos, de donde los sostienen las personas que los cuidan. Algunas veces se puede sospechar que han sido maltratados, pero las pruebas de niveles de Factor VIII y IX pueden mostrar que el niño o la niña tiene hemofilia. Algunos padres agregan relleno a la ropa o usan rodilleras o coderas para minimizar los moretones. Cortes y raspones menores Los cortes y raspones menores pueden tratarse por medio de primeros auxilios normales, pero el san- grado dentro del cuerpo es un problema mayor. Si un corte es lo suficientemente profundo como para requerir puntos de sutura o grapas, es posible que sea necesario reemplazar el factor. Sangrado de articulaciones Los episodios de sangrado ocurren con mayor frecuencia a medida que los niños se vuelven más activos. El tipo de sangrado más común en niños con hemofilia es el sangrado articular. Los niños pueden sentir un “burbujeo” o “hormigueo” en una articulación. Los niños pequeños pueden no darse cuenta de que este es un signo temprano de sangrado y si no reciben tratamiento para el sangrado en este punto, comenzarán a sentir dolor. Es común que cuando un niño o niña con hemofilia siente dolor en una articulación, intente protegerla flexionándola o doblándola para estar más cómodo/a. Si se toca el área del cuerpo donde hay una hemorragia, se puede sentir calor al tacto. Si el sangrado continúa por mucho tiempo, se puede notar hinchazón. Es posible que no se vea ningún hematoma porque el sangrado está

ocurriendo dentro de la articulación. Si no estás seguro de si tu hijo(a) está sangrando en la articulación, no lo/a obligues a mover el brazo o la pierna afectados porque esto puede causar más dolor. A veces es útil comparar la extremidad afectada con la del otro lado. Sangrado muscular El sangrado a menudo puede ocurrir en los músculos. Los primeros signos de una hemorragia muscular pueden incluir irritabilidad en bebés o niños pequeños o una negativa a usar uno de los brazos o piernas. Es posible que no se vea ningún hematoma porque el sangrado está dentro del músculo. El

músculo puede sentirse cálido al tacto. Con el tiempo, el músculo también puede inflamarse. Los bebés y niños pequeños pueden desarrollar hemorragias musculares en las nalgas porque a menudo se caen a medida que aprenden a pararse y a caminar. Usar dos pañales a la vez para obtener más relleno puede disminuir este tipo de sangrado. Algunos cuidadores también usan una pequeña pieza de hule espuma metida dentro de los pantalones de los niños. Algunas hemorragias musculares pueden ser más graves. Por ejemplo, el sangrado en el músculo mayor de la ingle y abdomen (el iliopsoas) es grave. Cuando los niños tienen una hemorragia en el músculo iliopsoas, a menudo presentan síntomas similares a la apendicitis. La participación del equipo del Hemophilia Treatment Center (HTC) (Centro de Tratamiento de Hemofilia) es fundamental para garantizar un diagnóstico y manejo adecuados para minimizar los retrasos en la atención. El sangrado en los músculos largos del antebrazo, la mano o la pantorrilla puede ejercer presión sobre los nervios y los músculos. La presión puede causar dolor intenso o entumecimiento debajo del lugar del sangrado; a esto se le llama síndrome compartimental. Una hemorragia compartimental es aquella que amenaza las extremidades. Es importante informar del sangrado o de cualquiera de estos síntomas al médico de tú hijo(a) y buscar tratamiento de inmediato. Sangrado bucal Los niños con hemofilia pueden tener sangrados prolongados en la boca cuando se lesionan los dientes, los labios o las encías. El sangrado prolongado también puede ocurrir cuando les salen dientes nuevos o pierden alguno. El sangrado bucal puede ocurrir después de una lesión o un procedimiento dental, como una extracción o un tratamiento de conducto. El sangrado bucal puede parecer peor de lo que es porque la sangre se mezcla con la saliva y parece que tu hijo(a) está perdiendo más sangre de la que tiene. Aplicar frío mediante una bebida helada o paleta (evita las bebidas y paletas de color rojo) puede ayudar a detener el sangrado. Si el sangrado dura más de 30 minutos informa al hematólogo. La hemofilia no causa problemas dentales. Los niños con hemofilia deben hacerse limpiezas dentales regulares para evitar problemas que puedan requerir procedimientos invasivos o que causen sangrado. Sangrado nasal La hemofilia no causa hemorragias nasales, pero tener hemofilia puede hacer que las hemorragias nasales por otras causas (alergias, lesiones, etc.) duren más. Las hemorragias nasales generalmente no son graves. Aplicar presión sobre la nariz durante 10-15 minutos, mientras tu hijo(a) se sienta en posición vertical, generalmente ayuda a detener el sangrado. Ponte en contacto con tu médico si el sangrado continúa después de 20 minutos a pesar de la presión y de otras medidas de primeros auxilios. Si tu hijo(a) tiene sangrados nasales frecuentes, puede ser aconsejable averiguar si hay alguna razón. Si puedes identificar el motivo de las hemorragias, es posible que éstas disminuyan. Sangrado ocular Debes hacer que el médico examine de inmediato cualquier lesión que tu hijo(a) sufra en los ojos. El sangrado en los ojos puede provocar ceguera. Sangrado de cuello y garganta Una lesión en el cuello o la garganta puede provocar un sangrado que afecte la capacidad de tu hijo(a) para respirar y tragar. Busca atención médica inmediata si ves que el cuello de tu hijo(a) se hincha o tiene problemas para respirar o tragar.

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