Aplastic anemia – treating a rare disease

Luckily, aplastic anemia (AA) is a rare disease that is only contracted by three out of every million people in the United States. It can be debilitating and sometimes life-threatening to those who get it, however, which is why the first week in December was designated as Aplastic Anemia Awareness Week by the Aplastic Anemia & MDS International Foundation (AAMDS). Because proper treatment can alleviate the symptoms of the disease and sometimes even cure it, the Medical Society of the State of New York (MSSNY) is sharing the following information about AA with the hope that it will encourage those who need it to seek appropriate medical care.

What is Aplastic Anemia and its Symptoms
Aplastic anemia is a disease of the bone marrow that causes it to either slow down or completely stop the production of red blood cells, white blood cells and platelets. Red blood cells carry oxygen to all parts of the body; white blood cells fight infection, and platelets control bleeding. Depending on the severity of the disease, the low number or lack of red blood cells can make a person feel tired or weak, short of breath and look pale. The lack of or low number of white blood cells can lead to frequent and severe infections. The lack or low number of platelets can result in easy bleeding, bruising and tiny red spots under the skin (petechiae).

Causes
The cause of most cases of AA is still unknown. In 20% of the cases, however, the cause is attributed to inherited disorder (such as Fanconi anemia), high doses of radiation, or certain chemicals or viruses. There is evidence that AA may be an autoimmune disease in some people, whereby the body’s immune system attacks the bone marrow and thus stops it from making enough blood cells.

Diagnosis
Anyone with AA symptoms - especially the tendency to bleed easily, which can be life-threatening - should seek medical care. Although a primary care physician could do an initial examination, a hematologist, a physician who specializes in blood diseases, should usually be consulted for more advanced testing and treatment.

To diagnoses AA, physicians test samples of blood and bone marrow. Bone marrow samples are usually collected from the back of the hip bone, in one of two ways: either by bone marrow aspiration - which involves extracting a small amount of liquid marrow with a needle, or by bone marrow biopsy - which involves extracting an intact core of marrow with a needle. If the marrow cells are normal (non-cancerous) but lacking or low in number, the patient is diagnosed as having AA. AA patients are then categorized as having moderate, severe or very severe AA.
Treatment

A person with moderate AA may not need any treatment at all, but because the disease can progress to moderately severe, physicians check the blood counts regularly. Patients with severe or very severe AA need treatment as soon as possible. The most appropriate treatment varies for each patient, depending on many factors including age and risk for particular side effects. Treatment options include:
Supportive Care - to keep a patient stable until other treatment can begin or take effect, or just to improve the quality of life for a patient for whom additional treatment is not recommended. This includes blood transfusions, which can reduce the risk of life-threatening bleeding and also make the patient less tired and short of breath. The down side is that too many transfusions can lead to excessive iron build-up and subsequent organ failure. Too many transfusions also increase the likelihood that the body will develop antibodies against the transfused platelets and increase the possibility of later transplant failure. Sometimes helpful are drugs called growth factors that help the body make more blood cells, but they are not always effective. Infection control with crowd avoidance and antibiotics is another form of supportive care.

Immunosuppressive Therapy - with drugs to weaken the immune system, often enables the bone marrow to mare more blood cells, possibly because the AA was caused by an overactive immune system. Immunosuppressive therapy is often administered to AA patients who are waiting for a transplant or in lieu of a transplant for those over 40 and for those unable to tolerate a transplant for other health reasons. This therapy has few side effects but often has to be repeated and can lead to a secondary disease, such as myelodysplastic syndrome (MDS) or leukemia.

Bone Marrow or Cord Blood Transplant (BMT) - replaces the abnormal cells in the bone marrow with healthy blood forming cells from a family member or unrelated donor or cord blood unit. A transplant offers the best chance for a cure to patients healthy enough to tolerate a transplant; children and young adults are, therefore, the most likely candidates. The biggest risk is graft rejection or graft failure, which means that the transplanted cells fail to grow and make new cells. Another serious risk is graft-versus-host disease (GVHD).
Sources for Additional Information

To learn more about aplastic anemia, the Medical Society of the State of New York recommends that you ask your personal physician or consult a hematologist. Additional information can also be obtained from the Aplastic Anemia & MDS International Foundation (AAMDS) by calling 800-747-2820 or going online to www.aamds.org, and from the National Marrow Donor Program by calling 888-999-6743 or logging on to www.marrow.org.

This information is provided by the Medical Society of the State of New York (MSSNY). For more health-related information and referrals to physicians in your community, log on to MSSNY’s website at www.mssny.org or contact your local county medical society.