Aplastic anemia

Aplastic anemia: Description, Causes and Risk Factors:Alternative Names: Ehrlich anemia, anemia gravis.Abbreviation: AA.Aplastic anemia is a disorder in which the bone marrow fails to make enough blood cells.The bone marrow is the soft, inner part of bones where the 3 types of blood cells are made:
  • Red blood cells, which carry oxygen to the tissues from the lungs.
  • White blood cells, which fight infection.
  • Platelets, which seal damaged blood vessels to prevent bleeding.
These cells are made by blood-forming stem cells in the bone marrow. In AA, the stem cells are damaged and there are very few of them. As a result, too few blood cells are produced. In most cases of aplastic anemia, all 3 types of blood cells are low (which is called pancytopenia). Rarely, just one of the cell lines, such as red cells, white cells, or platelets, is abnormal.Causes and Risk Factors:Aplastic anemia can be inherited or acquired. Acquired aplastic anemia is much more common than the inherited type.The disease is considered inherited when it is caused by gene mutations (abnormal copies of genes) that have been passed on from the parents to their child. Inherited aplastic anemia is more common in children and young adults.
  • The most common cause of inherited anemia is called Fanconi anemia (FA). There are many different genes that can cause FA. They include FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, and FANCN. In order to get FA, a child must inherit 2 abnormal copies of one of these genes -- one from each parent. Someone with only one abnormal copy will not develop the disease and is called a carrier.
  • Another inherited cause of AA is called dyskeratosis congenita. Two different genes, called TERC and TERT, are needed to make telomerase (an enzyme in eukaryotic cells that can add telomeres to the ends of chromosomes after they divide). An abnormal copy of either one of these genes can cause dyskeratosis congenita. Another gene, DKC1, makes a protein called dyskerin that is needed for telomerase to work. Abnormalities in this gene also cause dyskeratosis congenita.
  • Another cause of inherited aplastic anemia is called the Diamond-Blackfan syndrome. In this disease, red blood cells are low, but the number of other blood cells is normal.
Acquired aplastic anemia usually occurs in adults, but children may also be affected. Most have no gene abnormalities. Scientists have found that some of the people who they thought had acquired aplastic anemia actually have an abnormality in one of the genes responsible for inherited AA. The disease in these people is not really acquired -- it is inherited. Some cases of aplastic anemia seem to be triggered by a drug or exposure to a toxic chemical. In most cases of aplastic anemia, however, the cause is never found.Factors that can temporarily or permanently injure bone marrow and affect blood cell production include:
  • Radiation and chemotherapy treatments: While these cancer-fighting therapies kill cancer cells, they can also damage healthy cells, including stem cells in bone marrow. Aplastic anemia can be a temporary side effect of these treatments.
  • Exposure to toxic chemicals: Exposure to toxic chemicals, such as some used in pesticides and insecticides, may cause AA. Exposure to benzene — an ingredient in gasoline — also has been linked to aplastic anemia. This type of anemia sometimes gets better on its own if you avoid repeated exposure to the chemicals that caused your initial illness.
  • Use of certain drugs: Some medications, such as those used to treat rheumatoid arthritis and some antibiotics, can cause aplastic anemia.
  • Autoimmune disorders: An autoimmune disorder, in which your immune system begins attacking healthy cells, may involve stem cells in your bone marrow.
  • A viral infection: Viral infections that affect bone marrow may play a role in the development of AA in some people. Viruses that have been linked to the development of aplastic anemia include hepatitis, Epstein-Barr, cytomegalovirus, parvovirus B19 and HIV.
  • Pregnancy: Aplastic anemia that occurs in pregnancy may be related to an autoimmune problem — your immune system may attack your bone marrow during pregnancy.
  • Unknown factors: In many cases, doctors are not able to identify the cause of aplastic anemia. This is called idiopathic AA.
    • aplastic anemia
 If you have this disease, take care of yourself by:
    • Resting when you need to: Anemia can cause fatigue and shortness of breath with even mild exertion. Take a break and rest when you need to.
  • Avoiding contact sports: Because of the risk of bleeding associated with a low platelet count, avoid activities that may result in a cut or fall.
  • Protecting yourself from germs: You can reduce your risk of infections with frequent hand-washing and by avoiding sick people. If you develop a fever or other indicators of an infection, see your doctor for treatment.
Symptoms:Signs and symptoms may include:
  • Fatigue.
  • Shortness of breath with exertion.
  • Rapid or irregular heart rate.
  • Pale skin.
  • Frequent or prolonged infections.
  • Unexplained or easy bruising.
  • Nosebleeds and bleeding gums.
  • Prolonged bleeding from cuts.
  • Skin rash.
  • Dizziness.
  • Headache.
Diagnosis:To diagnose aplastic anemia, your doctor may recommend:Blood tests: Normally, red blood cell, white blood cell and platelet levels stay within a certain range. Your doctor may suspect aplastic anemia when all three of these blood cell levels are very low.Bone marrow biopsy: To confirm a diagnosis, you will need to undergo a bone marrow biopsy. In this procedure, a doctor uses a needle to remove a small sample of bone marrow from a large bone in your body, such as your hipbone. The bone marrow sample is examined under a microscope to rule out other blood-related diseases. In AA, bone marrow contains fewer blood cells than normal.Once you have received a diagnosis of aplastic anemia, you may need additional tests to determine an underlying cause.Treatment:Treatments  may include observation for mild cases, blood transfusions and medications for more serious cases, and, in severe cases, bone marrow transplantation. Severe aplastic anemia, in which your blood cell counts are extremely low, is life-threatening and requires immediate hospitalization for treatment.Blood transfusions: Treatment for aplastic anemia usually involves blood transfusions to control bleeding and relieve anemia symptoms. Blood transfusions are not a cure for AA. But they do relieve signs and symptoms by providing blood cells that your bone marrow is not producing.A transfusion may include:
  • Red blood cells: Transfusions of red blood cells raise red blood cell counts. This helps relieve anemia and fatigue.
  • Platelets: Transfusions of platelets help prevent excessive bleeding.
  • While there's generally no limit to the number of blood cell transfusions you can have, complications can sometimes arise with multiple transfusions. Transfused red blood cells contain iron that can accumulate in your body and can damage vital organs if an iron overload is not treated. Medications can help your body get rid of excess iron. Another possible complication is that over time, your body may develop antibodies to transfused blood cells, making them less effective at relieving symptoms.
Stem cell transplant: A stem cell transplant to rebuild the bone marrow with stem cells from a donor may offer the only successful treatment option for people with severe AA. A stem cell transplant, which is also called a bone marrow transplant, is generally the treatment of choice for people who are younger and have a matching donor — most often a sibling.If a donor is found, your diseased bone marrow is first depleted with radiation or chemotherapy. Healthy stem cells from the donor are filtered from the blood. The healthy stem cells are injected intravenously into your bloodstream, where they migrate to the bone marrow cavities and begin generating new blood cells. The procedure requires a lengthy hospital stay. After the transplant, you'll receive drugs to help prevent rejection of the donated stem cells.A stem cell transplant carries risks. There is a chance that your body may reject the transplant, leading to life-threatening complications. In addition, not everyone is a candidate for transplantation or can find a suitable donor.Immunosuppressants: For people who can not undergo a bone marrow transplant or for those whose AA may be due to an autoimmune disorder, treatment may involve drugs that alter or suppress the immune system (immunosuppressants).Drugs such as cyclosporine (Gengraf, Neoral, Sandimmune) and antithymocyte globulin (Thymoglobulin) are examples. These drugs suppress the activity of immune cells that are damaging your bone marrow. This helps your bone marrow recover and generate new blood cells. Cyclosporine and antithymocyte globulin (ATG) are often used in combination.Corticosteroids, such as methylprednisolone (Medrol, Solu-Medrol), are often given at the same time as these drugs.Immune-suppressing drugs can be very effective at treating aplastic anemia. The downside is that these drugs further weaken your immune system. Is it also possible that after you stop taking these drugs, aplastic anemia may return.Bone marrow stimulants:Certain drugs — including colony-stimulating factors, such as sargramostim (Leukine), filgrastim (Neupogen) and pegfilgrastim (Neulasta), and epoetin alfa (Epogen, Procrit) — may help stimulate the bone marrow to produce new blood cells. Growth factors are often used in combination with immune-suppressing drugs.Antibiotics, antivirals: Having AA weakens your immune system. You have fewer white blood cells in circulation to fight off germs. This leaves you susceptible to infections.At the first sign of infection, such as a fever, see your doctor. You do not want the infection to get worse, because it could prove life-threatening. If you have severe AA, your doctor may give you antibiotics or antiviral medications to help prevent infections.Other treatments: Aplastic anemia caused by radiation and chemotherapy treatments for cancer usually improves once you complete those treatments. The same is true for most other drugs that induce aplastic anemia.Pregnant women with AA are treated with blood transfusions. For many women, pregnancy-related aplastic anemia improves once the pregnancy ends. If that does not happen, treatment is still necessary.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care. 


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