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Anemia Aplastic

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Aplastic anemia

Summary

Aplastic anemia is a blood disorder caused by failure of the bone marrow to make enough new blood cells. Bone marrow is a sponge-like tissue inside the bones that makes stem cells that develop into red blood cells, white blood cells, and platelets.[1] Symptoms may include: fatigue,weakness, dizziness, shortness of breath, frequent infections, and bleeding. Aplastic anemia can lead to other health concerns such as an irregular heartbeat, an enlarged heart, and heart failure. It can be caused by injury to blood stem cells due to exposure to certain drugs, chemotherapy, congenital disorders, drug therapy to suppress the immune system, pregnancy, radiation therapy, or toxins such as benzene or arsenic. When the cause is unknown, it is referred to as idiopathic aplastic anemia. In about half of all cases, no cause can be found. The condition can be acute or chronic.[2]

Last updated: 11/30/2016

 

Symptoms

Symptoms of acquired aplastic anemia may include bleeding of the gums, bleeding of internal organs, easy bruising, fatigue, frequent or severe infections, nosebleeds, rapid heart rate, rash, shortness of breath during physical activity, and weakness.[2]

Last updated: 8/21/2009

 

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

 

Treatment

Treatment for aplastic anemia varies depending on the severity. While some individuals with mild to moderate aplastic anemia may not require treatment, for others, treatment may include:[3][4]

  • Blood transfusions to keep blood cell counts at acceptable levels
  • Blood and marrow stem cell transplants to replace damaged stem cells with health ones from a donor (another person)
  • Medications to stimulate the bone marrow, suppress the immune system, and prevent and treat infections

Blood and marrow stem cell transplants may cure aplastic anemia in some instances. This treatment option works best in children and young adults with severe aplastic anemia who are otherwise in good health.[4]

Last updated: 12/6/2016

 

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.

  • Eltrombopag –
    FDA-approved indication: Treatment of thrombocytopenia in patients with chronic immune (idiopathic) thrombocytopenic purpura who have had an insufficient response to corticosteroids, immunoglobulins, or splenectomy. Treatment of patients with severe aplastic anemia who have had an insufficient response to immunosuppressive therapy.

 

Prognosis

A small number of people with aplastic anemia may spontaneously recover with supportive care; however, for most individuals, the condition worsens without identification and treatment of the underlying cause and/or treatment of the disease. Bone marrow transplant may cure the disease in children and young patients and has a 10 year survival rate of approximately 73%. For many, bone marrow transplant is not an option due to the risks and potential long-term side effects.[3][4][5]

Last updated: 12/6/2016

 

Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are studying or have studied Aplastic anemia.

 

Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

 

Resources

  1. What Is Aplastic Anemia?. National Heart, Lung, and Blood Institute. August 22, 2012; https://www.nhlbi.nih.gov/health/health-topics/topics/aplastic. Accessed 11/30/2016.
  2. Aplastic Anemia. MedlinePlus. August 2016; https://medlineplus.gov/aplasticanemia.html. Accessed 11/30/2016.
  3. Bakhshi S. Aplastic Anemia Treatment & Management. Medscape Reference. February 15, 2016; http://emedicine.medscape.com/article/198759-overview. Accessed 12/6/2016.
  4. How Is Aplastic Anemia Treated?. National Heart, Lung, and Blood Institute. 5/17/2012; https://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/treatment. Accessed 12/6/2016.
  5. Treatments. The Aplastic Anemia and MDS International Foundation. 4/19/2016; http://www.aamds.org/diseases/aplastic-anemia/treatment. Accessed 12/6/2016.

 

Source:

https://rarediseases.info.nih.gov/diseases/5836/aplastic-anemia