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Aplastic anemia is a rare and serious condition characterized by the inability of the bone marrow stem cells to produce enough blood cells, which makes the body more susceptible to uncontrolled bleeding and infections. Aplastic anemia is a form of bone marrow failure syndrome.
This condition might happen quickly or gradually and get worse over time. Ideally, the body produces red blood cells, white blood cells, and platelets. With aplastic anemia, it can stop producing one but usually the body will run low on all three. It could be fatal if the blood count falls too low.
Studies have shown that the immune system of the body assaults its own tissues and organs in most cases of severe aplastic anemia. In this severity, a bone marrow transplant may be needed. Medications, blood transfusions or a stem cell transplant are possible treatments for aplastic anemia.
There are two types of aplastic anemia: acquired and inherited. Acquired aplastic anemia is triggered by issues in the immune system, while inherited aplastic anemia is caused by gene defects.
Symptoms
Symptoms may vary according to every person, which may onset gradually or suddenly. Symptoms include:
- Tiredness
- Pale skin
- Difficult breathing
- Irregular or rapid heartbeat
- Frequent or prolonged infections
- Bleeding or bruising easily
- Excessive bleeding of wounds
- Skin rash
- Headache or dizziness
- Fever
Aplastic anemia can develop into a chronic or life-threatening condition. In some cases, it may be temporary.
Causes
Red blood cells, white blood cells, and platelets are created by stem cells in the bone marrow. Each of the blood cells plays a different role. The red blood cells transport oxygen throughout the body. The white blood cells fight infection. The platelets prevent bleeding. When the stem cells are compromised, it can result to the bone marrow being aplastic (empty) or hypoplastic (small number of blood cells).
Issues with the immune system, specifically destroying the stem cells in the bone marrow is the most common cause of aplastic anemia. Other factors that can harm bone marrow and influence the production of blood cells include:
- Radiation and chemotherapy: These medical treatments are powerful tool to treat cancer. It uses medications and high-powered X-rays to destroy cancer cells and stop tumor growth. However, it can also harm healthy cells, including bone marrow stem cells. The aplastic anemia associated with this is usually temporary.
- Toxic chemicals exposure: Exposure to harmful substance can trigger and cause aplastic anemia. Toxic substances include those from herbicides, insecticides and benzene, a component of gasoline.
- Drug: Aplastic anemia can be caused by several certain drugs, including certain antibiotics and rheumatoid arthritis medicines.
- Autoimmune disorders: Stem cells in the bone marrow may be affected by an autoimmune disease such as eosinophilic fasciitis or lupus. The immune system attacks healthy cells which result to aplastic anemia.
- Pregnancy: Aplastic anemia may manifest during pregnancy if the immune system attacks the bone marrow.
- Viral infection: Aplastic anemia has been associated with the hepatitis, Epstein-Barr, CMV, parvovirus B19, and HIV viruses. These viral infections can affect the bone marrow and cause aplastic anemia.
- Idiopathic aplastic anemia: The underlying cause is unknown.
Connections with other rare disorders
There are other blood disorders that may be experienced by those with aplastic anemia such as, Fanconi’s anemia and Paroxysmal nocturnal hemoglobinuria.
Fanconi’s anemia (FA) is a genetic disorder that can cause aplastic anemia. It can also result in physical anomalies that may change a person’s appearance such as underdeveloped limbs.
Paroxysmal nocturnal hemoglobinuria is a rare condition which causes red blood cells to break down prematurely. Aplastic anemia may result from this disorder, or aplastic anemia itself may develop into paroxysmal nocturnal hemoglobinuria.
Risk factors
Aplastic anemia is rare although it may affect anyone. A person becomes more susceptible to it due to these factors:
- Cancer treatment such as radiation and chemotherapy
- Toxic substance exposure
- Prescription medications such as gold compounds for rheumatoid arthritis and chloramphenicol for bacterial infections treatment
- Autoimmune diseases and severe infection
- Pregnancy (rare)
- Other blood disorders
Statistics shows that aplastic anemia are commonly diagnosed on Asian or Asian-American, teenager or young adult, and those aged 65 years and older.
Diagnosis
The doctor may require several tests to confirm diagnosis of aplastic anemia:
- Blood tests: This measures the red blood cells, white blood cells and platelet levels in the body. All three of these are below the normal range if the patient has aplastic anemia.
- Bone marrow biopsy: This procedure is necessary to confirm diagnosis of aplastic anemia. A small sample of bone marrow is taken from inside the bone and is inspected under a microscope. A bone marrow with aplastic anemia produces less blood cells than usual. This procedure is also done to rule out other blood disorders.
The doctor may require additional testing to identify the underlying cause of the aplastic anemia.
Treatment
There are many types of treatments available for aplastic anemia such as bone marrow transplants, blood transfusions and medication. The healthcare provider will determine the most appropriate option based on the medical history, severity of the condition and the age of the patient. Urgent medical attention is needed for conditions with extremely low blood count, as it can be fatal.
- Blood transfusions: A blood transfusion is given to replace red blood cells and platelets that may be too low. It can effectively alleviate the symptoms including tiredness and bruising.
In some instances, the iron from transfused red blood cells can build up in the body and harm important organs. This occurs if the iron excess is not addressed which is a result of unlimited blood transfusion. The extra iron can be cleansed with medications.
Taking an immunosuppressant drug is known to prevent the immune system from producing antibodies against transfused blood. This is crucial in maintaining the ability of the transfused blood to treat symptoms.
- Stem cell transplant: A stem cell transplant, also known as the bone marrow transplant, is a known cure for aplastic anemia. The patient receives healthy stem cells from a bone marrow transplant. The healthy stem cells are used to replace damaged marrow. The stem cell transplant could come from a donation, peripheral stem cells, or umbilical cord blood.
During a bone marrow transplant, radiation or chemotherapy is used to destroy the non-functioning bone marrow. Blood from the donor is filtered to remove any healthy stem cells. The blood is intravenously injected with the healthy stem cells, which move to the bone marrow cavities and begin the process of producing new blood cells. Medications are usually given to help prevent the donated stem cells from being rejected after the transplant.
A bone marrow transplant requires longer hospital stay and comes with several risks. Severe complications and infection could happen if the body rejects the transplant. However, not everyone qualifies for a transplant or can find a matching donor.
- Immunosuppressants: In some cases, if a bone marrow transplant is not possible or in people whose autoimmune condition is the cause of their aplastic anemia, drugs that suppress the immune system may be recommended instead. Common immunosuppressants are anti-thymocyte globulin (ATG) and cyclosporine.
Immune cells that are harming the bone marrow are suppressed by medications such cyclosporine (Gengraf, Neoral, Sandimmune) and anti-thymocyte globulin. This promotes bone marrow recovery and the production of new blood cells. Anti-thymocyte globulin is frequently used in conjunction with cyclosporine. Immunosuppressants are frequently used with corticosteroids.
Aplastic anemia cannot be cured with medication. However, it may partially improve blood cell production. Up to 50% of patients relapse or could later acquire further blood-forming diseases or malignancies when stopping these medications.
- Bone marrow stimulants: Colony-stimulating agents aid in promoting the production of new blood cells in the bone marrow. Growth factors are frequently used with immunosuppressive medications. Commonly prescribed stimulants are sargramostim, filgrastim, pegfilgrastim, epoetin alfa and eltrombopag.
- Antibiotics, antivirals: Antibiotics or antiviral drugs are often prescribed to help avoid infection for patients with severe aplastic anemia. These patients have compromised immune system making them more vulnerable to infections. It is recommended to visit a doctor as soon as symptoms of infection, like fever, occurs as it can lead to severe complications.
- Other treatments: Blood transfusions are recommended for aplastic anemia in pregnant women. In some instances, aplastic anemia may get better on its own if it is caused by pregnancy, or radiation and chemotherapy. The condition may become better once the pregnancy is over or following the cessation of radiation and chemotherapy for cancer. It may also be the same for medications that cause aplastic anemia. If the condition persists, treatment may be required.
