Aplastic anemia is a medical condition that damages stem cells in a person’s bone marrow. These cells are responsible for making red blood cells, white blood cells, and platelets, which are vital to human health.
Doctors believe various conditions can cause aplastic anemia, while the disease itself ranges in severity from mild to life threatening.
Medical advancements mean that aplastic anemia is more treatable than ever. In this article, learn more about this rare medical disorder.
When a person has aplastic anemia, their bone marrow does not create the blood cells it needs. This causes them to feel ill and increases their risk of getting infections.
Doctors also call aplastic anemia bone marrow failure.
Doctors do not know exactly how many people in the United States have aplastic anemia.
According to the National Organization for Rare Disorders (NORD), doctors diagnose approximately 500 to 1,000 cases every year. It is most common in older children, teenagers, and young adults.
Researchers believe that most cases of aplastic anemia are due to the immune system attacking healthy bone marrow cells, according to NORD.
Doctors have also identified some of the possible causes of this immune system response, including:
- exposure to benzene, a chemical used to make plastics, synthetic fibers, dyes, detergents, and pesticides
- insecticide exposure
- nonviral hepatitis
- pesticide exposure
- medications, such as chemotherapy drugs or chloramphenicol
- rheumatoid arthritis and lupus
- other infectious diseases
However, doctors usually cannot pinpoint the underlying cause in most aplastic anemia cases.
When the cause is unknown, doctors refer to the condition as idiopathic aplastic anemia.
Symptoms of aplastic anemia include:
These symptoms may be severe. Some people may have heart-related symptoms, such as chest pain.
A doctor will start by asking about a person’s symptoms and their medical history.
They will usually use a blood test known as a complete blood count (CBC) to evaluate a person’s red blood cells, white blood cells, and platelets. If all three of these components are low, a person has pancytopenia.
A doctor may also recommend taking a sample of bone marrow, which comes from a person’s pelvis or hip.
A laboratory technician will examine the bone marrow. If a person has aplastic anemia, the bone marrow will not have typical stem cells.
Aplastic anemia can also have similar symptoms as other medical conditions, such as myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria. A doctor will want to rule out these conditions.
Sometimes, a person with other medical conditions can develop aplastic anemia. These conditions include:
- ataxia-pancytopenia syndrome
- Fanconi anemia
- Schwachman-Diamond syndrome
- telomere diseases
If a person has these conditions, a doctor will recognize that they are more likely to get aplastic anemia.
Doctors usually have two goals when treating aplastic anemia. The first is to reduce the person’s symptoms, and the second is to stimulate the bone marrow to create new blood cells.
People with aplastic anemia can receive blood and platelet transfusions to correct low blood counts.
A doctor may also prescribe antibiotics as a person needs white blood cells to fight infections. Ideally, these drugs will prevent infections until a person can build more new white blood cells.
Doctors usually recommend a bone marrow transplant to stimulate new cell growth in the long term.
For this, a doctor may first prescribe chemotherapy medications to kill off abnormal bone marrow cells that are affecting a person’s overall bone marrow function.
Next, a doctor performs a bone marrow transplant by injecting the bone marrow into a patient’s body.
Ideally, the individual will receive bone marrow from a close family member. However, even a sibling donor is only a match in 20–30% of cases.
People can also receive bone marrow from someone who is not related to them if doctors can find a compatible donor.
Some people cannot tolerate bone marrow transplants, especially older adults, and those having difficulty recovering from chemotherapy. Others may not be able to find a donor that matches their bone marrow. In these instances, a doctor can prescribe immunosuppressive therapy.
Immunosuppressive medicines suppress the immune system, which ideally stops it from attacking healthy bone marrow cells. Examples of these medications include antithymocyte globulin (ATG) and cyclosporine.
According to NORD, an estimated one-third of people with aplastic anemia do not respond to immunosuppressive drugs.
If this is the case, doctors may consider other treatments, such as hematopoietic stem cell transplantation and a medication called eltrombopag (Promacta).
Those with aplastic anemia may face complications due to their disease as well as their treatment.
Sometimes, a person’s body rejects a bone marrow transplant. Doctors call this graft-versus-host disease or GVHD.
GVHD can make a person feel extremely ill and can cause symptoms that include:
- blistering skin
- injury to the liver
These conditions can develop years after a person’s initial diagnosis.
Some people do not respond to aplastic anemia treatments. When this is the case, they are more vulnerable to infections that can be life threatening.
The outlook for a person with aplastic anemia depends on many factors, including:
- Age: Younger people usually have better treatment outcomes than older people.
- The donor: Those who receive bone marrow from a sibling tend to have better outcomes than those receiving bone marrow from a non-related donor. Advancements in testing methods are helping change this, however.
- Overall health: Those who have other chronic medical conditions may have a more complex treatment plan.
A doctor will discuss a person’s treatment outlook when considering the various therapies.
Aplastic anemia damages stem cells in a person’s bone marrow. The bone marrow makes red blood cells, white blood cells, and platelets, which are all essential for the body.
A person with aplastic anemia may experience severe anemia symptoms. Treatment may include chemotherapy, stem cell transplants, and immunotherapy.