Understanding Aplastic Anemia

Transcription

1 Your Guide to Understanding Aplastic Anemia

2 The Aplastic Anemia and MDS International Foundation is a nonprofit health organization dedicated to supporting patients, families and caregivers coping with: Aplastic anemia Myelodysplastic syndromes (MDS) Paroxysmal nocturnal hemoglobinuria (PNH) Related bone marrow failure diseases This guide is based on the most up-to-date research and has been carefully reviewed by independent experts. It provides important information about aplastic anemia and treatment options. But remember, this guide isn t a replacement for the advice of your doctor. If you have aplastic anemia, you need to work closely with a medical specialist who knows how to evaluate your aplastic anemia and select the best possible treatment for you. For more information about aplastic anemia or our Foundation, call (800) or go to We wish to express special thanks to our consultants on this patient guide: Amy E. DeZern, MD, MHS Assistant Professor of Oncology and Medicine Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins Danielle Townsley, MD Staff Clinician National Heart, Lung and Blood Institute National Institutes of Health Previous consultant and reviewer Neal S. Young, MD Chief, Hematology Branch National Heart, Lung and Blood Institute National Institutes of Health About the Cover Image Briana Donis is an aplastic anemia patient who lives in Austin, TX. 2 Copyright 2017 Aplastic Anemia and MDS International Foundation YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

3 Table of Contents Learn the Basics... 5 Know the Symptoms... 9 Discover Your Diagnosis...12 Understand Your Treatment Options...21 Treating Symptoms...22 Immunosuppressive Therapy...26 Stem Cell Transplantation...30 Explore Clinical Trials...35 Special Precautions for Aplastic Anemia Patients...37 Take Control of Your Care...39 Appendix A: 15 Questions to Ask Your Doctor...43 Appendix B: Understanding Complete Blood Count (CBC) Test Results

4 Just learning about aplastic anemia? If you or a loved one was just diagnosed, you may feel a little overwhelmed right now. Aplastic anemia is a rare blood disorder, and many people have never heard of it before. But there s good news there are excellent treatments that can help people feel better and live longer. Right now, you need to learn as much as you can about aplastic anemia, and this guide is the right place to start. It answers the basic questions you and your family are likely to have about the disease, the treatments, and what you can expect. This guide will help you become an informed and effective member of your health care team. The more you understand about your condition, the more in control you will feel and the more prepared you will be to work with your doctor and decide on your next steps. 4 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

5 Learn the Basics What is aplastic anemia? Aplastic anemia is a rare and serious disease. It happens when your bone marrow fails to make enough blood cells (low blood cell counts). I just found out I have aplastic anemia. I want to know all I can about this disease what it is and why it happens. Rami How Does Aplastic Anemia Affect Blood Cells? To better understand aplastic anemia, it helps to know a little bit about the different types of blood cells you have and how your body makes blood cells. Your blood carries 3 different kinds of blood cells. Each one has an important role to play. Red blood cells carry oxygen from your lungs to all the cells in your body White blood cells protect you by attacking germs. There are many different types of white cells to fight different germs Platelets help your blood clot and stop bleeding 5

6 Learn the Basics Your bone marrow a spongy tissue inside some of your bones is like a factory that makes all of the blood cells you need. Normally, special cells inside your bone marrow (called blood-forming stem cells) grow up into all the healthy red blood cells, white blood cells, and platelets in your body. Aplastic anemia is caused by destruction of these blood-forming stem cells in your bone marrow. Most research suggests that this stem cell destruction occurs because your body s immune system attacks its own cells by mistake. Normally, your immune system attacks only foreign substances. When your immune system attacks your own body, you are said to have an autoimmune disease. This type of aplastic anemia is called acquired aplastic anemia and is thought to be an autoimmune disease (see below for explanation of acquired vs. hereditary aplastic anemia). Other examples of autoimmune diseases include rheumatoid arthritis and lupus. Understanding Acquired vs. Hereditary Aplastic Anemia Acquired Aplastic Anemia Acquired aplastic anemia can begin anytime in life, but is more often seen in children and adolescents. Most cases are considered idiopathic. This means they have no known or identifiable cause. Some cases of acquired aplastic anemia may be caused by radiation and chemotherapy from prior treatments for other diseases. Acquired aplastic anemia has also been linked with viral infections (hepatitis B or C, Epstein-Barr, HIV, etc.), certain drugs, chemical or radiation exposures and pregnancy. 6 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

7 Learn the Basics Hereditary Aplastic Anemia Hereditary aplastic anemia can be passed down through the genes from parent to child or can be caused by a new gene mutation present from birth. It is usually diagnosed in childhood and is less common than acquired aplastic anemia. People who develop hereditary aplastic anemia often, but not always, have other physical abnormalities. Some inherited conditions, also called bone marrow failure syndromes, increase the likelihood that a person will develop the hereditary form of aplastic anemia. These types of aplastic anemia can only be diagnosed with specialized testing. These very rare disorders include: Fanconi anemia Dyskeratosis congenita or other telomere disorder* Shwachman-Diamond syndrome Congenital amegakaryocytic thrombocytopenia *One type of hereditary aplastic anemia is due to excessive shortening of the ends of chromosomes, called telomeres. This is usually diagnosed in young adults. Family members of the patient may have a history of aplastic anemia or scarring (fibrosis) of the lungs or liver. What Does Not Cause Aplastic Anemia? Aplastic anemia is not contagious and cannot be passed from person to person. Some other health problems can cause low blood counts, but do not cause aplastic anemia. These conditions include infectious diseases such as HIV and autoimmune diseases, such as lupus. 7

8 Learn the Basics QUESTION: I was just diagnosed with aplastic anemia. I am worried about what will happen to me over time? How long can I expect to live? Sally ANSWER: The course of aplastic anemia varies from person to person. You may have only mild symptoms, or you may have severe symptoms. Over thirty years ago, aplastic anemia was considered a fatal disease. Today, with standard treatments, more than 7 in 10 patients get better. But the chance for recovery depends on many factors, including the severity of the disease, type of treatment received and the patient s age. New treatments are helping people with aplastic anemia live longer. To learn about ways to treat aplastic anemia, see page 21. REVIEW Blood is made of red cells, white cells and platelets floating in plasma Blood-forming stem cells in the bone marrow can grow into all three types of blood cells Aplastic anemia happens when your bone marrow fails to make enough blood cells Most cases of aplastic anemia are acquired and happen when your immune system attacks the blood-forming stem cells in your bone marrow 8 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

9 Know the Symptoms People with aplastic anemia typically have low blood cell counts for all blood types red cells, white cells and platelets. Doctors call this pancytopenia. Specific symptoms are related to each type of low blood cell count and to how low that count is. First I was feeling run down, but I figured I just had a cold that wouldn t go away. Then I started getting short of breath. And my girlfriend noticed I was bruising easily. That s when I realized something more serious was going on, so I went to the doctor. James Low red blood cell levels (anemia) Red blood cells carry oxygen to your cells. Having a low level can make you feel tired and run down. You may notice changes in how you feel, like: Getting more tired when you re active or having trouble staying active Not being as hungry as usual Having a harder time thinking clearly or concentrating 9

10 Know the Symptoms You may also notice other symptoms like: Headaches Pale skin Trouble breathing, especially when you re physically active Fast heartbeat or chest pain Weight loss Swelling in your ankles and legs Low white blood cell levels (leukopenia or neutropenia) If you don t have enough white blood cells to fight germs, you may get sick more often and have more infections. It is possible to develop a lifethreatening infection that will get worse very quickly unless antibiotics are given. Fever is the first sign of infection and requires immediate medical attention. When you have a low white cell count you may have: Mouth sores Stuffy nose and sinus infections Throat infections Skin infections Lung infections including pneumonia or bronchitis Bladder infections that may make it hurt to urinate or make you urinate more often Fevers are the most serious and require immediate medical attention 10 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

11 Know the Symptoms Low platelet levels (thrombocytopenia) Platelets help your blood clot so you stop bleeding. When you have low platelet levels you may: Bruise or bleed more easily, even from small scrapes and bumps Have bleeding gums, especially after brushing your teeth or seeing the dentist Get nose bleeds Bleed under the skin, causing tiny, flat, red spots called petechiae most often on your lower legs If you have low platelet levels, tell your doctor or dentist before you get an operation, tooth cleaning, or any other procedures. REVIEW The symptoms of aplastic anemia are caused by low blood cell counts Low red blood cell levels can make you feel tired and run down Low white cell levels can raise your chance of getting an infection Low platelet levels can cause you to bleed and bruise easily 11

12 Discover Your Diagnosis For me, diagnosis was pretty quick once I went to the doctor. After she saw my bloodwork, she said I might have aplastic anemia because my counts were so low, but needed to rule out a few other things first. She sent me for a bone marrow biopsy, and that confirmed that my bone marrow was not making cells. I was relieved to know what was going on. Kaitlyn Many tests and tools are used to diagnose aplastic anemia. These help to confirm the diagnosis, look for its cause and find out how severe it is. They are also used to rule out other conditions that may cause similar symptoms. Your doctor will start with a medical history, physical examination, blood tests and bone marrow tests. Genetic tests may be ordered too. These will help rule out any hereditary causes of your aplastic anemia. Getting the right diagnosis is key because it helps your doctor decide which treatments will work best. Medical history This is usually the first step in getting a diagnosis. Your doctor will ask questions about how you are feeling, like: What symptoms have you noticed? Have you been feeling tired? 12 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

13 Discover Your Diagnosis Have you had any infections or fevers recently? Have you had bruises or cuts that take longer to stop bleeding and heal? Your doctor may also ask questions to determine when your low blood counts started and what may have caused it, like: How long have your blood counts been low? (having past records can help your doctor) What medications have you been taking? (prescribed or over the counter/herbal supplements) Have you been exposed to harmful chemicals? Have you had previous transfusions? Do you have any other known diseases or conditions? Has your liver been inflamed recently? Is there a family history of similar conditions or other autoimmune diseases? The doctor will also perform a thorough physical examination to look for any other abnormalities that could point to any inherited forms of aplastic anemia. See Appendix A for a list of questions to ask your doctor. 13

14 Discover Your Diagnosis Blood Tests Blood tests help your doctor find out how severe your aplastic anemia is. They also help rule out other possible causes of your low blood counts. Complete Blood Count (CBC) This test measures the number of each blood cell type in your blood sample. A CBC is a way of finding out if your blood counts are low and how low they are compared to normal counts. Your doctor will ask you to get a CBC and possibly other blood tests on a regular basis. This will allow your doctor to know if your counts have changed since your last CBC. A CBC typically includes the following: Red blood cell (RBC) count measures number of red blood cells in a given volume of blood Hemoglobin (Hgb) measures the amount of this oxygen-carrying protein in red blood cells Hematocrit (HCT) measures how much of your whole blood is made up of red blood cells Mean corpuscular volume (MCV) measures the average size of red blood cells White blood cell (WBC) count measures the actual number of white blood cells in a given volume of blood. It is also called a leukocyte count White blood cell (WBC) differential looks at the many different types of white blood cells in your blood Platelet (thrombocyte) count measures the number of platelets in a given volume of blood 14 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

15 Discover Your Diagnosis See Appendix B on page 45 to learn more about how to read and understand your CBC results. Other blood tests Your doctor may also want to do other tests on your blood sample, like: Reticulocyte count to check how many young red blood cells you have. This is often very low in aplastic anemia because bone marrow is not able to make new young red blood cells Erythropoietin or EPO level, because shortage of EPO can cause anemia. EPO is a protein made in your kidneys that tells your bone marrow to make more red blood cells. It is often high in people with aplastic anemia. A low level may mean you have a problem other than aplastic anemia Iron level to see if you have enough iron in your blood. A shortage of iron can cause anemia. If a person has iron deficiency anemia, the red blood cells are often abnormally small Ferritin level helps your doctor know more about your iron storage level. Ferritin tests measure the amount of a protein in blood cells that carries oxygen. Low ferritin means you have low iron stores. High ferritin may mean you may have iron overload (caused by getting lots of blood transfusions or inability to make normal red cells) (see page 24 for more on iron overload) Vitamin B-12 and folate levels because low levels of these vitamins can cause low red blood cell levels and blood cells with an abnormal appearance Pregnancy test because pregnancy can cause aplastic anemia in some women Hepatitis and liver enzyme tests to rule out a viral cause, such as Hepatitis B or C, or autoimmune hepatitis that can make the liver enzymes high 15

16 Discover Your Diagnosis Additional tests your doctor might consider: PNH clone testing using flow cytometry. Paroxysmal nocturnal hemoglobinuria (PNH) is a disease that commonly occurs with aplastic anemia. This test tells your doctor if PNH cells are present in your bone marrow or blood. PNH clone testing is now a standard part of the workup for aplastic anemia. Learn more about PNH on page 20. Genetic testing to look for a hereditary form of aplastic anemia. This can include chromosome breakage tests (for Fanconi anemia), telomere length testing (for dyskeratosis congenita or telomere diseases) and DNA sequencing analysis looking for a specific gene mutation or alteration in the DNA sequence you were born with. Bone marrow tests You need to have bone marrow tests to confirm that you have aplastic anemia. Your doctor will take a sample of liquid bone marrow (aspirate) and a small piece of bone and solid marrow (core). Bone marrow tests show: The type of cells your bone marrow is making and how many If you have any abnormal looking cells in your bone marrow, this could mean you have a disease other than aplastic anemia Your doctor may run some other special tests on your bone marrow samples, like: Cytogenetics or karyotyping and FISH (fluorescence in situ hybridization) that check for problems in the chromosomes in your bone marrow Flow cytometry that shows the types and amounts of different cells in your bone marrow 16 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

17 Discover Your Diagnosis Genomic analysis, or sequencing of genes in the bone marrow cells, to check for acquired changes (mutations) in the DNA of your bone marrow cells. What to expect from a bone marrow test Your doctor will probably take bone marrow samples from the back of your hipbone. Here s what usually happens: You lie down on an exam table on your belly or on one side You may get some medicine to help you feel relaxed You ll get a shot of medicine in the skin (local anesthetic) to make the area numb Your doctor will put a needle through your skin into the bone to get samples of your bone marrow The test can hurt, but usually just for a few moments. Afterward, you may be sore for a few days, bruised and notice a little bleeding. Your doctor may suggest you take acetaminophen (Tylenol ) for pain. Aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs) like Advil may not be safe, because they can make bleeding worse. Infections after a bone marrow test are not common, but they can happen. Ask your doctor for signs of infection you should watch for. They can include: Fever Redness or swelling at the site of the test 17

18 Discover Your Diagnosis Classifying Aplastic Anemia Aplastic anemia is divided into three categories. Moderate Severe Very severe Your category is directly related to how low your blood counts are. If you have moderate aplastic anemia: You may have low blood cell counts, but not as low as with severe aplastic anemia You may have few or no symptoms Your doctor may not recommend treatment. Instead, your doctor may just watch your blood counts and follow them over time Your condition may stay the same for many years, get better on its own, or progress to a more severe disease over time If you have severe aplastic anemia, at least two of the following are true: Your reticulocyte (young red blood cell) count is less than 20,000 cells per microliter Your neutrophil count is less than 500 cells per microliter Your platelet count is less than 20,000 cells per microliter 18 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

19 Discover Your Diagnosis If you have very severe aplastic anemia: Your neutrophil count is less than 200 cells per microliter Your blood counts are otherwise like those of someone with severe aplastic anemia Other Bone Marrow Failure Diseases You Should Be Aware Of Myelodysplastic syndromes (MDS) Paroxysmal nocturnal hemoglobinuria (PNH) Like aplastic anemia, these diseases cause the bone marrow to stop making cells properly. What you should know about MDS: Some people with aplastic anemia can develop MDS. Over a 10 year period, about 10 out of 100 people with aplastic anemia develop MDS. Like aplastic anemia, MDS can cause low blood cell counts In MDS, an abnormal bone marrow stem cell creates abnormal blood cells. In aplastic anemia, bone marrow stem cells make normal blood cells, but not enough of them People are more likely to get MDS as they get older 19

20 Discover Your Diagnosis What you should know about PNH in aplastic anemia: More than 20 out of every 100 people with aplastic anemia have evidence of PNH cells at the time of diagnosis An abnormal bone marrow stem cell with a mutation in a gene called PIG-A makes abnormal PNH red blood cells. These PNH red blood cells are missing proteins on their surface that causes them to be attacked by your immune system and destroyed in the blood stream (a process called hemolysis). In aplastic anemia, bone marrow stem cells make normal blood cells, but not enough of them At least 1 in 3 people with PNH disease get blood clots. The symptoms depend on where the clots occur Patients with aplastic anemia can have some of these PNH blood cells present without having any of the symptoms of PNH disease. Over time the PNH blood cells can increase and require treatment for PNH To learn more about MDS and PNH, visit our website at REVIEW Doctors use a medical history, physical examination, blood tests and bone marrow tests to diagnose aplastic anemia Blood and bone marrow tests are also used to rule out other possible causes of low blood cell counts People who have aplastic anemia need regular testing, so their doctors know how they re doing and if treatment is working Aplastic anemia can be moderate, severe or very severe People with aplastic anemia can also develop other bone marrow failure diseases, like MDS and PNH 20 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

21 Understand Your Treatment Options I just found out my daughter has aplastic anemia. I really wish she didn t have to go through that. But I m glad she s living at a time when there are good treatment options. It gives me hope. Steve The main goal of aplastic anemia treatment is to increase the number of healthy cells in your blood. These treatments can: Boost your healthy blood cell levels Make your symptoms better Improve your quality of life Cut down on the number of transfusions you need Before getting any treatment, talk with your doctor about the risks and benefits. That way you can make an informed choice about which treatment is best for you. 21

22 Understand Your Treatment Options This chapter breaks down your treatment options into 3 types: Treating symptoms like low blood counts and infections. Doctors call this supportive care. Immunosuppressive therapy that aims to fix the underlying cause of the acquired aplastic anemia Stem cell transplantation that replaces your bone marrow with that of a healthy donor Your doctor will look at several factors in finding the best treatment plan for you. These include: Your age Your symptoms How severe your case is based on your blood counts and symptoms Other diseases or conditions you have Whether someone (often a family member) is willing and able to donate matching stem cells to you Whether you have an inherited bone marrow failure syndrome Treating Symptoms This approach is also called supportive care and only addresses symptoms, not the underlying condition. Supportive care is usually combined with other treatments until blood counts improve. Supportive care can help treat low red blood cell levels (anemia), prevent infections and stop or prevent bleeding. Doctors use different types of supportive care, depending on your blood cell levels and symptoms. 22 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

23 Understand Your Treatment Options Blood Transfusions In a blood transfusion, whole blood or parts of blood from a donor are put directly into your bloodstream. Your doctor will look at your blood counts and symptoms to decide if you need a transfusion. During a transfusion, your doctor will put donated blood cells into your bloodstream through a needle (IV). There are 2 different types of transfusions aplastic anemia patients may need: Red blood cell transfusions can help if you have low red blood cell levels (anemia). Some people with aplastic anemia only need these rarely, and others need them every 1 to 2 weeks. Platelet transfusions can help if you don t have enough platelets, but the effects don t last long just 3 to 4 days. Also, the more often you get platelet transfusions, the less they may help. So your doctor may want to try other treatments to improve platelet counts. White blood cells live for a very short time. For this reason, patients with a low white blood cell count do not routinely receive transfusions of white blood cells. Blood transfusions may cause side effects. These include: Allergic reactions: Platelet transfusions are more likely than red blood cells to cause an allergic reaction that might include chills and fever Hemolysis: This is the breaking apart of red blood cells 23

24 Understand Your Treatment Options Getting donated blood from a family member could be a bad idea because: At some point, you may need a stem cell transplant from someone in your family If you get donated stem cells from a person who donated blood to you in the past, the transplant is less likely to work That s why doctors recommend using blood donated by someone outside of your family or at least testing the family member first to make sure they are NOT a stem cell match. Iron Chelation Therapy People who get a lot of red blood cell transfusions can get too much iron in their blood. Over time, the extra iron can build up in their heart, liver and other organs and damage them. This is called iron overload. Using special medicines to get some of the extra iron out of your body is called chelation. These medicines include: Deferasirox (Exjade or Jadenu ), which is given as a pill Deferoxamine (Desferal ), which is given as a shot or through an IV Deferiprone (Ferriprox ), which is given as a pill. However, it s not often used with aplastic anemia and is more common outside the United States Growth Factors Growth factors are proteins that your body produces naturally to signal the bone marrow to increase the production of blood cells. Man-made forms of some growth factors are available. 24 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

25 Understand Your Treatment Options Most people with aplastic anemia have naturally high levels of growth factors because their bodies are trying to stimulate the failing bone marrow to make more blood cells. In this case, growth factors will not help. Red blood cell growth factors Erythropoietin, or EPO for short, is a growth factor made by your kidneys. It causes your bone marrow to make more red blood cells. If you don t have enough red blood cells, certain medicines can help your bone marrow grow more of them. They are called erythropoiesis stimulating agents (ESA) and are given as a shot. Types of ESA include epoetin (Procrit and Epogen ) and darbepoetin (Aranesp ). White blood cell growth factors If you have an infection because of low white blood cell levels, these medicines may help your bone marrow make more white cells. However, studies have shown that adding these drugs to the treatment of people with bone marrow failure has little or no benefit. Platelet growth factors Eltrombopag (Promacta ) is a growth factor that stimulates the production of platelets and also stimulates production of red and white cells. It is approved for patients with low platelets from other diseases (such as chronic immune thrombocytopenia and hepatitis C) as well as for patients with aplastic anemia whose blood counts remain low after treatment with immunosuppressive therapy (refractory disease). Eltrombopag is capable of improving red blood cell and white blood cell counts in addition to the platelet counts by stimulating the stem cells in the bone marrow. In the future, eltrombopag may become part of the standard treatment for patients with newly diagnosed aplastic anemia in combination with immunosuppressive therapy. 25

26 Understand Your Treatment Options Immunosuppressive Therapy Most scientists believe that aplastic anemia happens when your immune system attacks and destroys some of your bone marrow stem cells. Your bone marrow is then unable to make enough blood cells. Immunosuppressive therapy uses medicines to stop your immune system from attacking your bone marrow. This allows your bone marrow stem cells to grow back and make more blood cells. The most commonly used immunosuppressive drugs to treat aplastic anemia are: Antithymocyte globulin (ATG) Cyclosporine These two drugs are most often given in combination. Other immunosuppressive drugs that may be used are: Alemtuzumab (Campath ) Tacrolimus (Prograf ) What are the benefits of immunosuppressive drug therapy? This therapy is usually the first treatment used with older patients and with all patients who don t have a matched related stem cell donor. It has several potential benefits, including: At least partial bone marrow recovery Manageable side effects Usually requires only brief hospital stays 26 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

27 Understand Your Treatment Options Antithymocyte Globulin (ATG) What is ATG? ATG is created injecting human white blood cells (T-lymphocyte cells) into a horse or a rabbit, and extracting the antibodies (proteins) produced and creating a serum. You may hear it referred to as horse ATG (hatg) or rabbit ATG (ratg). ATG is usually used in combination with cyclosporine. ATG works by killing specific cells in your immune system called T-lymphocytes the cells that are attacking your bone marrow stem cells. This allows your bone marrow to rebuild its supply of bloodforming stem cells. How is ATG Given? ATG is usually given by intravenous infusion (IV) for 4-12 hours a day for four days in a row. The schedule depends on your needs, the type of ATG used and the methods of your doctor or hospital. How well does ATG it work? When used alone, ATG improves blood counts about half of the time When used with cyclosporine, ATG improves blood counts in about 7 out of 10 cases If it works, ATG usually stops the need for transfusions within three to six months. Full recovery can take more than a year If the first treatment of ATG did not work well, your doctor will discuss alternative approaches. 27

28 Understand Your Treatment Options What are the side effects of ATG? Initial side effects may include: Chills Fever Hives Flushing These side effects go away after treatment. Less Common and Longer Term Side Effects of ATG Treatment Very rarely, a severe allergic reaction to ATG can happen. This is called anaphylaxis. It causes a drop in blood pressure and trouble breathing. It can be life threatening. Before getting ATG, you may receive a skin test to find out if you are likely to develop this allergic reaction to ATG. Some people get serum sickness. This happens when your immune system reacts to foreign proteins in the ATG medicine. It causes fever, rash, joint pain and muscle aches. This usually happens one to two weeks after the first treatment and lasts a couple of days. Decrease in blood flow to the hip causing the hipbone to die. This is called avascular necrosis of the hip. This condition can develop months or years after treatment. It causes pain in the groin area and difficulty walking. 28 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

29 Understand Your Treatment Options Horse vs. Rabbit ATG A 2012 study conducted by the National Institutes of Health (NIH) found that horse-derived ATG provides a better overall response rate in aplastic anemia patients. In other words, patients who took horse ATG had increased blood counts, and the counts stayed up longer when compared to patients given rabbit ATG. This does not mean that rabbit ATG does not work. It is still be a good option for aplastic anemia treatment when horse ATG is not available. Cyclosporine What is cyclosporine? Cyclosporine is a drug that prevents T-lymphocytes in your immune system from becoming active. Once the T-lymphocytes are turned off by the cyclosporine, they stop attacking stem cells in the bone marrow. Then the stem cells are able to grow back. How is cyclosporine given? Cyclosporine comes in liquid and pill forms. The amount of the first dose is based on how much you weigh. Later doses depend on the amount of cyclosporine in your blood. Too little cyclosporine will not work, but too much will cause side effects. Your doctor will check your level regularly until the levels are stable in the blood in the desired range. If you are responding well to cyclosporine, your doctor may decrease your dose over time. How well does cyclosporine work? When used alone, cyclosporine is less effective than ATG When used with ATG, cyclosporine improves blood counts in about 7 out of 10 cases 29

30 Understand Your Treatment Options What are the side effects of cyclosporine? Cyclosporine may cause: High blood pressure Kidney damage Loss of magnesium or potassium Liver inflammation Increased hair growth Gum swelling Gastrointestinal disturbance These side effects can usually be corrected by adjusting the dosage. Medicines to lower your blood pressure and replace magnesium or potassium can help. Kidney damage is one serious side effect that needs to be carefully monitored. This can happen with long-term cyclosporine use, as is often required for aplastic anemia treatment. Your doctor should regularly monitor your creatinine level, a kidney function test. Stem Cell Transplantation In this treatment, all of your blood-forming stem cells are replaced with healthy cells from a donor. This is the only treatment that offers the possibility of a full cure from aplastic anemia. In many ways it is an imperfect cure because it carries serious risks and the possibility of long-term side-effects and complications. It is not an option for all patients. 30 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

31 Understand Your Treatment Options Stem cell transplantation works best in patients who: Are generally healthy and don t have other serious medical conditions Have a well matched donor Are younger than age 40 How do you find a donor? To get a stem cell transplant, you need to find a donor who has cells that closely match your own. Usually, you would first look for a donor in your family most commonly a brother or sister. Your doctor will need to do special tests to make sure a donor is a full match. About 3 out of 10 people find a matched sibling donor (also called a matched related donor). If you can t find a family member who is a match, your doctor will look outside your family for an unrelated donor. To find an unrelated donor, your doctor will use a bone marrow donor registry managed by the National Marrow Donor Program. Learn more by visiting their website at If you can t find any donor, other possible options include: Cord blood transplantation. This uses stem cells taken (and frozen) from a baby s umbilical cord and placenta right after birth. Cord blood does not need to be fully matched for transplant. Half-matched donors. Usually, you would need a full-matched donor for a stem cell transplant. But some transplant centers are able to use half-matched donors. This makes it easier to find a possible donor. Your children or parents are usually halfmatched. Doctors call this a haploidentical transplant. 31

32 Understand Your Treatment Options What to expect? Stem cell transplantation is an involved medical procedure. Here s what you can expect: You will check into the hospital for chemotherapy and immune suppression therapy to destroy all remaining cells in your bone marrow ATG is commonly used as part of the conditioning medications before transplant Radiation is rarely used You will have to stay near the hospital and take medicines to protect yourself from getting an infection during this time this could be as short as a week to more than a month Your doctor will put healthy stem cells from your donor (graft) into your blood If it works, your healthy stem cells will move into your marrow and start making new blood cells for your body this is called engraftment and it can take several weeks before it happens after the graft has been given to you Your doctor will watch your blood cell levels to see if the new cells are working correctly If everything goes well, the new, healthy cells will take over and start making all the red blood cells, white blood cells and platelets you need. 32 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

33 Understand Your Treatment Options How well does stem cell transplantation work? In aplastic anemia, more than 8 out of 10 transplants from a matched related donor succeed. The success rate with transplants from a matched unrelated donor or a partially matched donor is improving rapidly. What are the side effects and risks? Stem cell transplants have risks and you need to talk them over with your doctor. Chemotherapy (and radiation) can cause infections and low blood cell levels until the new cells start growing. In about 5 in 100 cases the donor stem cells do not grow. This is called graft rejection or graft failure. It is more likely to happen if you have had many blood transfusions or if you get stem cells from a mismatched donor or umbilical cord blood. Certain medications can be given to help ensure the graft continues to stay working in your body. In some cases, the donated cells can start to attack the recipient s body. This is called graft-versus-host disease (GVHD) which can be life threatening. GVHD s symptoms can range from mild (a skin rash that resolves quickly) to life threatening (severe diarrhea with damage to the bowel walls). GVHD can develop even though you are receiving medications (such as cyclosporine or others) that are given in an effort to prevent GVHD. 33

34 Understand Your Treatment Options GVHD is more likely to occur if: You are an older patient Your donor was not a matched relative Your donor was not a perfect match You are given stem cells obtained from blood of the donor instead of bone marrow REVIEW Blood transfusions can be used to increase red blood cell and platelet counts Growth factors can be given to help increase blood cell counts in some patients Immunosuppressive therapy can improve blood cell levels by stopping your body from attacking healthy cells in your bone marrow Stem cell transplantation replaces stem cells in your bone marrow with healthy ones from a donor 34 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

35 Explore Clinical Trials My daughter did not respond well to standard treatments, so her doctor helped her get into a clinical trial. He says it s her best chance of recovery. I contacted AAMDSIF to get help exploring what s out there. Soo Jin Scientists are always looking for new and better ways to treat aplastic anemia. They are conducting controlled clinical trials, also called research studies. The studies are often done at university medical research centers around the world. These studies help experts learn: Whether a new treatment works and is safe How new treatments or new combinations of treatments compare with older ones Think about joining a clinical trial if: Standard treatments have not made your aplastic anemia better You are not satisfied with how well standard treatment is working 35

36 Explore Clinical Trials Taking part in a clinical trial has benefits: You ll get excellent care from aplastic anemia experts You could get access to a new, cutting-edge treatment for aplastic anemia The results of the clinical trial could help other people who have aplastic anemia Clinical trials also have risks: You don t know if the treatment you re getting will actually help You could have unexpected side effects or other problems Clinical trials aren t right for everyone with aplastic anemia. Before you decide to take part in a clinical trial, think it over carefully. Talk it over with your family and discuss the pros and cons with your doctor. For more information about clinical trials: Visit and Call (800) and ask to speak with our Information Specialist REVIEW Clinical trials test out new treatments and approaches for aplastic anemia Taking part in a clinical trial has possible benefits and risks, so you need to talk them over with your family and doctor 36 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

37 Special Precautions for Aplastic Anemia Patients Because you have aplastic anemia, everyday events can be more risky for you than for healthy people. Here are some examples. Airplane Travel and High Altitudes The higher you go above sea level, the less oxygen there is. If you have anemia, flying in an airplane or going up high may cause a shortage of oxygen in your body. It may also cause chest pain. If you have a low platelet count, changes in cabin pressure can cause bleeding inside the ear. The recirculated air may increase the risk of viral infection. Before flying or going to high altitudes: Ask your doctor if flying or being in high altitudes is safe for you Get a red blood cell count and a platelet count Get treatment for your anemia (blood transfusions or growth factors) if needed If you do fly, remember to: Drink plenty of water Get up and walk around every hour or two if it is safe to do so 37

38 Pregnancy Pregnancy is possible with aplastic anemia, but it carries risks for both mother and child. Every person and every pregnancy is different. If you have aplastic anemia and want to get pregnant or do become pregnant: Find an aplastic anemia specialist and an OB (obstetrician) who specializes in high-risk births Make sure to talk with your specialists about your specific case and all the risks One study has indicated that pregnancy can cause a relapse of aplastic anemia in as many as 20 in 100 cases. This means that blood counts went down. Some women also needed blood transfusions during childbirth. You may also have an increased risk of problems during pregnancy if you have: A low platelet count You also have PNH (see page 20 for more on PNH) Surgery Surgery can also be risky for people with aplastic anemia. Serious bleeding can happen in people with a low platelet count. Platelet transfusions may be needed before surgery. The risk of serious infection is also higher. If you do need to have surgery, make sure your aplastic anemia specialist talks with the surgeon. 38 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

39 Take Control of Your Care Now that you ve learned more about aplastic anemia, you re ready to take the next steps. Here are 6 things you can do to take charge of your care. 1. Find a doctor you trust You and your aplastic anemia doctor need to be a team. You ll be working together for a long time to keep you healthy. So if you haven t already found aplastic anemia expert, you need to start looking now. Two types of doctors specialize in treating aplastic anemia, and either one can be a good choice: Hematologists, who focus on treating problems with the blood and bone marrow Oncologists, who focus on treating cancer To get the names of aplastic anemia doctors in your area, you can: Ask your regular doctor or insurance company for the names of experts in your area Call the nearest medical school with a teaching hospital Call the Aplastic Anemia and MDS International Foundation HelpLine at (800) or us at help@aamds.org When you first meet a doctor, imagine that you re interviewing him or her for a job. Make sure you re a good match and that the doctor makes you feel comfortable, really listens to you and answers all your questions Think about getting a second opinion. Seeing a second expert can help you understand all your choices and decide on a treatment plan. Some health plans actually require a second opinion. 39

40 Take Control of Your Care 2. Be prepared for doctor visits It s easy to forget important questions when you re sitting in the doctor s office. So before every check-up, make sure that you: Take a list of questions you wrote down earlier. See Appendix A at the end of this section for a list of questions you might ask Take a notebook to write down what your doctor says, or ask a family member to take notes for you If you don t understand something, ask your doctor to explain. Remember, the doctor is there to help you 3. Keep track of your information Keep all of your aplastic anemia information in one place along with your lab results, times you are transfused and medical records. You can store them all in a notebook, on your computer, or online using a phone or tablet app. 4. Work together on a treatment plan Your treatment plan is like a roadmap. It shows what treatments you need now and what you may need in the future. Your doctor will make changes to your treatment plan over time. The best treatment plan depends on a lot of different things like: Your symptoms Your age Your blood cell levels Your overall health 40 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

41 Take Control of Your Care Take a good look at the treatment plan your doctor suggests. Make sure you understand it and that it seems like the right approach. Having a good treatment plan will make you feel more in control and more positive about the future. 5. Get support Living with aplastic anemia and going through treatment can be hard. Sometimes you may feel tired, sick, or worried. That s why it s so important to ask for help. See if family members or friends can take over some chores, like shopping or driving you to and from doctor s appointments. You may be surprised by how many people really want to help out if you ask. Think about making an appointment with a counselor or therapist. Try to find someone with experience helping people dealing with health issues like aplastic anemia. You can also ask your doctor about support groups for people with aplastic anemia. Joining a support group can be a great way to share experiences and get tips on managing life with aplastic anemia. Meeting others who truly understand what you re going through can make a big difference. If you have aplastic anemia, you can t go it alone! It took me a while to realize I needed to ask for help. Once I had a team of family and friends together, I felt a lot better about getting through treatment. Kathleen 41

42 Take Control of Your Care 6. Lower your stress levels It s easy to get overwhelmed or feel down when living with a serious illness. You might stop doing things you enjoyed in the past. You might isolate yourself from others. Medicines and other treatments can help your symptoms and blood cell levels. But they may not help how you feel emotionally. That s why trying mind-body therapies which focus on lowering stress and boosting your mood is a great idea. These therapies can also help with pain and give you more energy. Look into treatments like: Relaxation techniques, like meditation, deep breathing exercises and aromatherapy Gentle physical activity, like yoga, tai chi and chi gong Massage therapy, acupuncture, reiki, or healing touch (NOTE: Patients with a low platelet count may need to avoid massage therapy or acupuncture) Other simple things that can help are: Going on walks Sitting outside and enjoying nature Laughing more watch funny movies or read funny books Writing in a journal especially about what you feel grateful for Enjoying hobbies, like knitting, coloring, or gardening Check with your doctor before trying a mind-body therapy and talk about which ones might be best for you. You can also find out if your hospital or medical center has integrative medicine specialists on staff. They re experts in using mind-body therapies to help people feel better. 42 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

43 Appendix A: 15 Questions to Ask Your Doctor About Aplastic Anemia 1. How serious is my aplastic anemia? 2. Tell me about patients who have aplastic anemia like mine. How did they do? 3. Are there any special precautions I need to take? What about exercising and sports? About treatment 4. What are all my treatment options? 5. What treatment do you recommend for me and why? 6. How likely am I to get better with this treatment? 7. Is this a standard treatment, or is it a new or experimental treatment 8. How long will the treatment take to work? When will I know if it is working? About medicines 9. How do I take the medicine? 10. How long do I need to continue treatment? 11. What are the common side effects of this medicine? 12. What are the less common or more serious side effects? 13. What do I need to do to manage the more common and more serious side effects? 14. How much does it cost? 15. Is it covered by my insurance? 43

44 Notes 44 YOUR GUIDE TO UNDERSTANDING APLASTIC ANEMIA

45 Appendix B: Understanding Complete Blood Count (CBC) Test Results When you get your lab results back from the doctor, you may wonder what all those terms and numbers mean. Complete blood count (CBC) is a way of checking your blood cell levels. It s one test, but it gives you many results and details about the health of your blood cells. Compare your CBC results with what you see below. CBC Test Result What is it for? What s normal for adults?* Red Blood Cell Count (RBC) Reticulocyte count (not always done) Hemoglobin (Hgb) Hematocrit (HCT) Mean corpuscular volume (MCV) White blood cell (WBC) count Platelet (thrombocyte) count Measures the number of red blood cells in your sample Checks the number of very young red cells growing in your blood and bone marrow Checks the amount of a protein that carries oxygen in red blood cells people with anemia have a low level Measures how much of a given volume of whole blood is made up of red blood cells people with anemia have a low level Measures the average size of red blood cells a high level means they re bigger than normal and a low level means that they re smaller than normal Measures the number of white blood cells in your blood sample Measures the number of platelets in your blood sample Men: 4.4 to 5.8 million cells/mcl Women: 3.9 to 4.2 million cells /mcl Either an absolute number of reticulocytes and/or a percentage of reticulocytes can be reported. Adults: % Men: 13.8 to 17.2 grams/dl Women: 12.0 to 15.6 grams/dl Men: 41 percent to 50 percent Women: 35 percent to 46 percent 76 to 100 cu µm * Varies in different clinics or hospitals and in different parts of the country. 4.5 to 10 thousand cells/mcl 150 to 450 thousand/mcl 45