Frequently Asked Questions

This section provides easy-to-understand answers to the questions we hear most often from patients and families. Just click on the question to view the answer. Don't see the answer to your question here? Send your question to our patient educator now.

Disease (8)

Aplastic anemia happens when your bone marrow stops making enough blood-forming stem cells. Most experts believe aplastic anemia happens when your immune system attacks and kills your stem cells. This causes you to have low blood counts for all three types of blood cells. Low blood counts result in symptoms such as fatigue, tiredness, risk for infections, bleeding and bruising. This disease can be classified as moderate (MAA), severe (SAA) or very severe (VAA) depending on how low your blood counts are.

Aplastic anemia can strike people of any age, race, and gender. But it is more common among children, teenagers and also among older adults. It is also more likely to occur in people of Asian heritage. Between 600 and 900 people are diagnosed with aplastic anemia each year in the United States.

MDS (myelodysplastic syndromes) is a group of disorders in which your blood-forming stem cells are defective and fail to make enough healthy blood cells. These diseases happen because the bone marrow cells do not develop into mature blood cells. Instead, these blood cells stay within the bone marrow in an immature state. To be diagnosed with MDS, you must have low blood counts for at least one blood cell type and your blood cells must look abnormal under a microscope. Doctors must examine your bone marrow to give you a definite diagnosis of MDS. The symptoms and the course of MDS are different for each person depending on which blood cells are affected.

While the exact number of people who have MDS is not known, about 10,300 new cases were reported in the U.S. in 2003. This number was taken from data collected by the Surveillance, Epidemiology, and End Results (SEER) Program of the Centers for Disease Control (CDC) and the National Cancer Institute (NCI). This program only started collecting data in 2001. The number of people may be higher than reported because some doctors are not yet aware of the need to report MDS cases to a national registry. Some doctors believe that there are as many as 12,000 to 15,000 new MDS cases each year in the U.S.

We know that people diagnosed with MDS are:

  • More often men than women
  • Most often age 60 or older; the average age at diagnosis is 72
  • Most often white (Caucasian)
  • Native Americans, African-Americans, Inuits, Asians, and Pacific Islanders are less likely to get MDS.

PNH (paroxysmal nocturnal hemoglobinuria) is a rare and serous blood disease that causes your red blood cells to break apart. PNH occurs because of a genetic change to some of your blood-forming stem cells. These defective stem cells become PNH blood cells that are missing an important coating that protects them from your immune system. If you have PNH, there will be times where your immune system destroys many of your red blood cells very quickly. This causes low red blood cell counts. This can also cause blood clots, muscle spasms and dark urine.

PNH can strike people of any age, race, and gender. Only about 500 people are diagnosed with PNH in the United States each year. PNH tends to be more common in young adults – those in their thirties and early forties.

Graft versus host disease (GVHD) is a common complication of bone marrow/stem cell transplantation. It is caused when the donor's immune cells (the "graft"), now in the patient, begin to see the patient's body (the "host") as foreign. Typically, GVHD attacks your skin (red rash, itching), liver (elevated liver test, yellowing of skin and eyes, abdominal pain) and gastrointestinal tract (diarrhea, nausea, cramping). GVHD can range from mild to very severe. In some cases, GVHD can be prevented or treated with immunosuppressive drug therapy. Symptoms should be reported to your doctor immediately.

AML (acute myeloid leukemia) is a cancer of the white blood cells. It is defined as having more than 20 out of 100 young white blood cells (blasts) in the bone marrow. About 30 out of 100 people with MDS will develop AML. Certain subtypes of MDS are more likely to become AML. If you have RAEB-1 or RAEB-2 subtype of MDS, you have a greater than 4 in 10 chance of developing AML. Both aplastic anemia and PNH patients have a small chance of developing AML later in their disease.

Newly Diagnosed (10)

To make sure you get the best care and treatment, it is important to find a doctor with expertise in treating your specific disease. Specialists in bone marrow failure diseases such as aplastic anemia, MDS, and PNH are hematologists (doctors specializing in blood diseases) and oncologists (doctors specializing in cancer). To find an expert, you might want to call the hematology/oncology department at a teaching hospital affiliated with a local university to get the name of a doctor with expertise in your disease. The doctors at teaching hospitals are most familiar with rare diseases. They work in a research and teaching setting and are up-to-date on both the standard therapies and new investigational treatments.

Though AA&MDSIF does not refer specialists, patients and families can contact the AA&MDSIF patient educator, at (800) 747-2820 or clark@aamds.org for more information on finding a doctor and getting second opinions.

When contacting a specialist, you might ask the following questions:

  • Does the specialist accept your health insurance?
  • Is the doctor an expert in treating your suspected or diagnosed disease?
  • Is the physician's hospital or treatment center accredited and experienced in the treatment of bone marrow failure diseases?
  • Is the physician able to discuss all standard treatment options for your disease, including clinical trial options?
  • Are you comfortable with the style and level of communication with the physician and other members of the health care team?
  • How often will you need to visit the physician, and is transportation and housing an issue?

The main goal of aplastic anemia treatment is to increase the number of healthy cells in your blood (blood count). When your blood counts go up you are less likely to need blood from a donor (transfusion), your quality of life becomes better and your symptoms are not as bad.

Your doctor will look at several issues to find the best treatment plan for you. These include how severe your symptoms are, your age, other conditions or diseases you have and whether someone is willing and able to donate matching bone marrow to you (preferably a family member).

There are several treatments and treatment approaches your doctor may consider. These include:

  1. Supportive care helps manage the symptoms of your aplastic anemia. Its goals are to increase blood counts and treat infections. Supportive care treatments typically include blood transfusions and antibiotics, and may include growth factors or iron chelation for some patients.
  2. Immunosuppressive therapy lowers your body's immune response. This therapy uses medicines to keep the immune system from attacking the bone marrow stem cells. ATG (antithymocyte globulin) and cyclosporine are the medicines typically used.
  3. Bone marrow transplantation replaces your unhealthy blood-forming stem cells with healthy ones from a donor.

Clinical trials, also called research studies, may also be an option for patients who do not have success with the other treatment options.

The main goal of MDS treatment is to increase the number of healthy cells in your blood (blood count). When your blood counts go up you are less likely to need blood from a donor (transfusion), your quality of life becomes better and your symptoms are not as bad.

Your doctor will look at several issues to find the best treatment plan for you. These include your symptoms, your age, the subtype of MDS you have, your disease risk score, other conditions or diseases you have and whether someone is willing and able to donate matching bone marrow to you (preferably a family member).

There are a number of general approaches used in the treatment of MDS depending on the subtype of MDS you have and the severity of your case. These may be divided into the following:

  • Wait and watch, also called “watchful waiting” is an approach your doctor might suggest if your blood counts aren't too low and you symptoms aren't too bad.
  • Supportive care helps you manage the symptoms of your MDS. Its goals are to increase blood counts, treat infections, and treat iron overload. Supportive care treatments typically include blood transfusions and antibiotics, and may include growth factors or iron chelation for some patients.
  • Immunosuppressive therapy can lower your body's immune response and is appropriate for patients with certain types of MDS. This therapy uses medicines to keep the immune system from attacking the bone marrow. These medicines include ATG (antithymocyte globulin) and cyclosporine.
  • Drug therapies approved specifically to treat MDS stop abnormal cells from growing and stimulate the growth of healthy bone marrow cells. These therapies currently include lenalidomide (Revlimid), decitibine (Dacogen) and azacitidine (Vidaza).
  • Chemotherapy treats MDS by using drugs that kill abnormal cells.
  • Bone marrow/stem cell transplantation replaces your unhealthy blood-forming stem cells with healthy ones from a donor.

Clinical trials, also called research studies, may also be an option for patients who do not have success with the other treatment options.

PNH is considered chronic. That means it lasts for a long time. The only known cure is a bone marrow transplant. Other treatments are designed to ease symptoms and prevent problems.

There are several treatments and treatment approaches your doctor may consider. These include the following:

  • Wait and watch, also called “watchful waiting,” is an approach your doctor might suggest if your blood counts aren't too low and you symptoms aren't too bad.
  • Supportive care helps you manage the symptoms of your PNH. Its primary goal in PNH patients is to increase blood counts. Supportive care treatments typically include blood transfusions, and may include growth factors. For PNH patients this might also include taking extra iron (iron therapy).
  • Blood thinners (anticoagulants) may be used on some patients to help reduce the chance of getting blood clots.
  • Immunosuppressive therapy can lower your body's immune response and is appropriate for PNH patients who may also have aplastic anemia. This therapy uses medicines to keep the immune system from attacking the bone marrow. Antithymocyte globulin (ATG) and cyclosporine are the medicines typically used.
  • Eculizumab (Soliris®) is the only drug approved by the U.S. Food and Drug Administration (FDA) and the European Medicines Evaluation Agency (EMEA) to treat PNH. It works by making your complement system (a part of your immune system) less active.
  • Bone marrow/stem cell transplantation replaces your unhealthy blood-forming stem cells with healthy ones.

Clinical trials, also called research studies, may also be an option for patients who do not have success with the other treatment options.

Upon first diagnosis, many people want to know what to expect and how long they may have to live. This is called a prognosis. This is not an easy question to answer. Each person is unique and each person’s disease is a bit different. The course of a bone marrow failure disease varies a lot from person to person. You may have only very mild symptoms. Or, you may have severe symptoms and need medicines or blood transfusions. Below are some guidelines based on the most current data available:

Aplastic Anemia

Today, with standard treatments, between 7 and 9 out of 10 aplastic anemia patients get better. Standard treatments include immunosuppressive therapy with antithymocyte globulin (ATG) and cyclosporine, or a bone marrow transplant. The chance for recovery depends on many factors, including how severe your case is and how you respond to treatment.

MDS

There are many different subtypes of MDS. These subtypes are based on tests of the blood and bone marrow. Identifying your MDS subtype is one of the key factors doctors use to both decide on the best treatment approach and make a prognosis (an educated guess about the likely course of your disease and how long your are likely to live).

To figure out a prognosis for a given patient, doctors will also use a prognostic scoring system. The most common one used today is the International Prognostic Scoring System, or IPSS for short. This system looks at three things: 1) chromosome changes in the bone marrow cells; 2) number of low blood counts; and 3) percentage of young white blood cells (blasts) in your bone marrow. This prognostic scoring system tells your doctor how severe your disease is and how likely it is that your MDS might become acute myeloid leukemia (AML). It also gives your doctor a general idea about and how long you are likely to live.

With current treatments, patients with lower-risk types of some MDS can live for 5 years or even longer. Patients with higher-risk MDS that becomes acute myeloid leukemia (AML) are likely to have a shorter life span. About 30 out of 100 MDS patients will develop AML.

PNH

Many people with PNH live for decades. People with PNH who develop blood clots in key parts of the body or develop MDS (mylodysplastic syndromes) or AML (acute myeloid leukemia), may have a shorter life span. New treatments are becoming available that are helping PNH patients live longer. You may have seen older literature saying that PNH patients live an average of 15 to 20 years after diagnosis. More recent research shows that lifespan has been steadily climbing over the past 20 years. It is even possible that people with PNH will have a lifespan that is normal compared with people their age. Fortunately MDS and AML are rare in people with PNH.

Whether you are an aplastic anemia, MDS or PNH patient it is important to talk with your doctor about your prognosis. This may be hard to hear, but getting a prognosis will give you key information you need to make treatment decisions and plan for the future.

At this time there no evidence that these diseases are inherited. In other words, they are can not be passed down through the genes from parent to child. Most cases of aplastic anemia, MDS and PNH are considered to be “acquired” and the cause is not typically known.

Even if you're happy with your doctor and healthcare team, it's OK to get a second, third, or even fourth opinion. Getting a second opinion will not offend your doctor. In fact, most healthcare providers appreciate and encourage another point of view. And it's your right.

Seeking a second opinion can help you and your family with making difficult decisions about your treatment. Be sure to contact your health insurance company to determine if the healthcare provider is covered under your plan, so you will know what your out of pocket expenses will be. While most insurance companies will cover a second opinion, it is a good idea to check with your insurance company before seeing the new healthcare provider. You should be aware of and keep track of your out of pocket expenses.

You likely have many questions for your healthcare team. It is important to keep an ongoing list of your questions between appointments. Be sure to take your list of questions with you and keep asking until you get an answer you understand. Don’t be afraid to ask why your doctor is running a test, scheduling a procedure, or changing a medication. Here are a few questions to consider:

About your disease:

  • What subtype of my disease do I have?
  • How severe is my disease?
  • What is my prognosis?
  • What have other people with a similar disease and treatment gone through?

About treatment:

  • What are all my treatment options?
  • What treatment option do you recommend for me? Why?
  • Will I be getting more than one treatment?
  • How does this treatment work?
  • How likely am I to get better with the treatment?
  • How often is this treatment given?
  • Has this treatment been used a lot or is it a new or experimental treatment?
  • When can I expect the treatment to start working? When/how will I know if it is working?
  • What are some of the possible side effects I should be aware of? Are there long-term side effects?

While it can be difficult to imagine in the days and months following diagnosis, many patients develop strategies for successfully coping with the physical and emotional aspects of living with aplastic anemia, MDS or PNH and lead happy, fulfilling lives. Making small changes in daily activities can make a big impact on how you feel. Fatigue is a big issue for many patients, so listen to your body and rest when you need to. Talk to your doctor about ways you can decrease and manage fatigue. With a bit of patience, planning, and flexibility, many patients find ways to work, travel, exercise, and do the things they loved before diagnosis. Visit our Living Well section for tips on managing fatigue, diet and nutrition, exercise, emotional health and more.

There is no specific diet that makes aplastic anemia, MDS, or PNH better or worse. Experts recommend you eat a well-balanced diet. Your doctor can help you find the best eating plan for you. You may also want to talk to a dietitian, nutritionist, or other member of your healthcare team. Some insurance plans cover nutrition counseling.

Make sure to check with your doctor before taking any medicines, supplements, vitamins, or herbs. They may interact with your medicines and prevent them from working or increase the risk of side effects.

If your white blood cell count is very low, your doctor may ask you to avoid certain foods that can make you sick. This is called a neutropenic diet. This diet is controversial because research has not proven its value. This is because most infections in patients come from the billions of bacteria that normally live in the mouth, intestines and skin. Nevertheless, you should use common sense and avoid foods that might cause unnecessary infection, and follow these guidelines:

  • Avoid eating raw meats and fish
  • Drink only beverages that have been pasteurized to kill germs. Milk you buy from the store is fine to drink
  • Stay away from buffets
  • Don’t eat leftovers
Treatment (12)

Watchful waiting is an approach your doctor might suggest if your blood counts are not too low and your symptoms are not too bad. Your doctor will want to closely monitor your condition without giving any treatment, unless symptoms appear or change. This approach may be recommended in early stages of aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH).

Doctors will sometimes refer to certain treatments as supportive care. The goal of supportive care is to help you manage the symptoms of your disease. These treatments do not treat the underlying cause of the disease.

In general, supportive care includes the following:

Growth factors may also be used as supportive care. Growth factors are naturally occurring hormones produced your body. They cause your bone marrow to produce more blood cells. Red cell growth factor is most commonly used in bone marrow failure patients. It is called erythropoietin or EPO for short. Man made forms of erythropoietin come in the brand names Epogen and Procrit. Darbapoietin is similar to EPO, and comes in the brand name Aranesp. White cell growth factors and platelet growth factors are also available and used in some patients.

Doctors will sometimes refer to certain drugs as “active treatment” or “active drug therapy.” Active treatments are drugs used to treat the underlying cause of the bone marrow failure. These drugs are typically approved by the U.S. Food and Drug Administration (FDA) to treat a specific disease. It is important to note that active treatments do not cure the disease. The only cure for a bone marrow failure disease is a bone marrow/stem cell transplant.

For aplastic anemia, antithymocyte globulin (ATG), typically given with cyclosporine, is an active drug therapy often used. Learn more about treatments for aplastic anemia.

For MDS, there are three FDA approved active treatments currently available. These include lenalidomide (Revlimid®) decitibine (Dacogen®) and azacitidine (Vidaza®). Learn more about treatments for MDS.

For PNH patients the drug eculizumab (Soliris®) is the only FDA approved treatment currently available. Learn more about treatments for PNH.

It is important to think about both the risks and the benefits of a bone marrow/stem cell transplant. A transplant doctor can answer your questions and help you decide if a transplant is an option for you.

A bone marrow transplant has serious risks. Some patients suffer from life-threatening problems as a result of their transplant. These problems can include serious infections and graft-versus-host disease (GVHD), in which the transplanted cells attack the patient's body.

On the other hand, a transplant may be the best hope for a cure or a longer life for some patients. It is currently the only cure for bone marrow failure diseases like aplastic anemia, MDS and PNH. You, your doctor and your family need to consider many things when making a decision, including your disease stage, your age, your overall health, whether a matching donor is available, and other treatment options.

Scientists are always looking for newer and better ways to treat bone marrow failure diseases. A clinical trial is a type of research study that tests how a drug, medical device or treatment approach works in people. The studies often are conducted through university medical research centers around the world. You may want to consider a clinical trial if you are not satisfied with how well standard therapies are working. You may want to explore whether you are eligible for a clinical trial to compare new treatments or new combinations of therapy against the standard approach to therapy.

Other types of research studies include diagnostic trials to find new ways to diagnose a disease, screening trials find the best way to detect a disease or health problem, quality of life (supportive care) trials to improve the comfort of people with chronic illness and prevention trials to look for better ways to prevent disease in people who have never had the disease.

Most patients and families want to learn about recent advances in clinical research, particularly research leading to better treatments and outcomes. We offer the following resources to help you keep up to date on current research:

  • Personalized support from Patient Educators by emailing help@aamds.org or calling (800) 747-2820
  • Latest Research section on our Web site which includes recent articles from major hematology/oncology journals, retrieved from the National Library of Medicine’s PubMed portal to their MEDLINE database of journal citations and abstracts of the biomedical literature from around the world
  • Online Learning Center where you can view and participate in webinars, webcasts, interviews with experts and interactive learning modules
  • Clinical Trials pages that describe how new treatments are developed and how to find clinical treatment options for your disease
  • Print and electronic publications that keep you informed with news about research updates and medical advances
  • Patient and Family Conferences that give you the opportunity to hear from leading experts and learn from other patients.

Periodically, ask your hematologist or oncologist, as well as other members of your health care team, about the latest clinical research findings. They will be able to tell you how new research may or may not apply to your current medical management. Your hematologist or oncologist is often the best informed about medical advances.

For each drug, doctors have a set of criteria they use to measure a complete response, also called a full response. This criteria differs depending on the specific drug being used and the disease being treated.

For patients with bone marrow failure diseases, a complete response is typically blood counts that improve and remain at or near normal after treatment. For patients being treated for MDS, this might also include no blast cells in the blood and a normal number of blasts cells in the bone marrow.

A partial response is less than a full response and better than no response. It typically includes blood counts that are at least halfway between where they started and normal.

Ask you doctor for the criteria he or she has used to define a “full response” and a “partial response” to the treatment you have been given.

A relapse is a recurrence or return of disease characteristics and symptoms after a period of remission.

A remission is a partial or complete disappearance of the symptoms and characteristics of a disease, usually as a result of treatment. A complete remission means that there is no evidence of the disease. A partial remission means that the disease has improved, but the symptoms and characteristics of the disease remain.

Cyclosporine is a drug that lowers your body's immune response. Cyclosporine is used along with antithymocyte globulin (ATG), another immunosuppressant, for treating aplastic anemia and some other bone marrow failure diseases. If you are taking cyclosporine as part of your treatment regimen, your doctor should monitor you for side effects. Cyclosporine may cause high blood pressure, kidney damage, loss of magnesium or potassium, liver inflammation, increased hair growth and gum swelling.

These problems can usually be fixed. Your doctor might prescribe medicine to lower your blood pressure and to replace magnesium or potassium.

 

Generally speaking, patients can remain on cyclosporine indefinitely, as long as there is evidence that the drug is providing some benefit and there are no unwanted or adverse side effects. Some patients require prolonged treatment to prevent or minimize the risk of disease relapse.

For those who respond well to cyclosporine alone or in combination with antithymocyte globulin (ATG), most hematologists reduce the cyclosporine dosage after achieving optimal response. Tapering, or reducing the dosage, is done slowly over a long period of time. If low blood counts and disease symptoms return, your doctor may increase or restart cyclosporine.

For those who experience adverse side effects such as kidney toxicity, the drug must be discontinued.

Cyclosporine works by preventing T-lymphocytes from becoming active. Once the T-lymphocytes are turned off, they stop attacking stem cells in the bone marrow. Then the stem cells may be able to grow back.

This is an individual decision and should be discussed in detail with your doctor and the medical team that would be involved in either treatment approach. They can help you understand your specific risks and potential benefits of these treatment options. The main goal of aplastic anemia treatment is to increase the number of healthy cells in your blood so you will feel better, no longer need transfusions, and have improved quality of life.

Immunosuppressive therapy using ATG and cyclosporine prevents your immune system from attacking your bone marrow, letting your stem cells grow back and raising your blood count. This is a standard treatment for older patients or those without a stem cell donor.

Stem cell transplantation involves putting blood-forming stem cells from a healthy donor into your bloodstream. These cells travel to your bone marrow and start making healthy cells. This is a standard treatment for younger patients with severe aplastic anemia (SAA) and other bone marrow failure diseases if a donor is not available.

Other (2)

Medicare coverage is divided into four parts. Medicare Part A covers hospital and inpatient care. Medicare Part B covers doctor visits and other outpatient care. Under Parts A and B, you can get care from just about any hospital or doctor you choose. Medicare Part C gives you an option to sign up for private managed care plans that cover all Medicare services and sometimes provides extra benefits, but these plans limit the providers you can see. Medicare Part D is a separate program that just covers prescription drugs that might be used at home.

If you want a copy of your medical records, you must submit a written request to the hospital or the doctor's office. The patient's written authorization to disclose medical records or the information contained in them is required by law. Some hospitals have their own form that needs to be completed. Patients may receive copies of their medical records, however the originals must remain in the physician's or hospital's file.

AA&MDSIF Services and Support (3)

The Aplastic Anemia & MDS International Foundation (AA&MDSIF) is the world's leading nonprofit health organization dedicated to supporting patients and families living with aplastic anemia, myelodysplastic syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH), and related bone marrow failure diseases. We can help you by offering:

Personalized Support from Patient Educators - Email or call (800) 747-2820.

Free Educational Materials - Read the latest medical and treatment information. Get guidance for living well with a bone marrow failure disease.

Online Learning Center - View webcasts, interviews with experts, interactive learning modules and participate in live webinars.

Peer Support Network -Talk to our trained patient volunteers who can share their treatment experiences and provide emotional support and understanding.

Patient and Family Conferences - Attend one of our regional patient and family conferences. Hear from leading experts, and learn from other patients.

Print and Electronic Newsletters - Sign up for our Insider and MDS Connection electronic and print publications. Stay current with research, medical advances and inspirational patient stories.

Clinical Trials Information - Looking for a clinical trial? Let us help you.

Standing Up for Your Health - Learn how to become a strong advocate for your best health care and become a more powerful patient.

Communities of Hope - Volunteer-led local groups, working together with AA&MSDIF staff, which connect patients and families with each other to provide peer support and information exchange and to raise awareness and support for AA&MSDIF programs.

At the current time we offer a number of informational and Web based services for those living outside the United States. We have a patient educator who can respond to questions via email and/or phone. Educational materials packets can be sent either via email or regular mail. We also have an Online Learning Center (OLC) that houses more than 60 different video education programs, including webcasts, webinars, interactive learning modules and interviews with experts. We are continuing to look at ways we can serve international communities through collaborations with local patient service organizations. 

We provide many service and volunteer opportunities. Anyone can be a volunteer - there's no such thing as a "typical" or “one-size-fits-all” volunteer. Volunteering opportunities vary greatly in both time commitment and activity.  You can do something as simple as sending an email to your Congressman or something as elaborate as a full-scale fundraising event.

Here are a few things to consider:

  • Become a Peer Support Network volunteer.  The Peer Support Network program consists of a national network of volunteers, including patients, caregivers and family members, willing to listen and offer comfort and support to patients, their family members and caregivers. To become a volunteer you must have been diagnosed at least one year ago and complete a training.
  • Hold a fundraising and/or awareness event in your area. Plan an event on your own in just a few short weeks, or pull together family and friends to organize a larger event. Our Hope, Steps and a Cure walks occur in several communities each year and we are always looking to add new ones.
  • Join a Community of Hope support group. These volunteer led local groups are designed help create an ongoing, local organization supporting patients and families, and raising awareness and support for AA&MDSIF.