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Aplastic Anemia (AA)

Name of disease:

Aplastic Anemia (AA)

ICD-10 diagnosis code:

D61.9

Causes:

Most cases of Aplastic Anemia (AA) are caused by autoimmune damage to hematopoietic stem cells, and the underlying causes is unknown Some cases AA are related to the exposure of toxins such as benzene, pesticides, radiation and chemotherapy used for cancer treatment AA due to genetic cause is rare. It is associated with TERT and NBN mutation, and it can be passed along generation

Mode of inheritance:

Most cases are acquired and only a few cases are inherited.

Prevalence:

1/250,000

Diagnosis:

The diagnosis of AA is based on blood test because symptoms of aplastic anemia is nonspecific, making the diagnosis of AA difficult Blood test will show abnormally small number of red blood cells, white blood cells and platelets The diagnosis is confirmed and established by bone marrow aspiration and biopsy.

Age of onset:

Any age, but there are peaks of incidence in childhood and 20-25-year-old age group.

Common signs and symptoms:

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 Headache.

Available treatments (medicinal and non-medicinal):

For severe AA, hematopoietic cell transplantation (HCT is required after finding matching donor because of the improved outcomes. For patients who cannot find suitable donors, immunosuppressive therapy will be used.

Disease management tips:

Since AA is a medical emergency, once symptoms of AA are observed, patients should be admitted to hospital for medical check-up and treatment, including blood transfusion, immunosuppressive therapy and HCT Because AA patients have low level of white blood cells, which is responsible for body defense, they are more prone to infection. Therefore, raw meats, dairy products or fruits and vegetables which are likely to be colonized by bacteria should be avoided. Patients should also maintain good personal hygiene to reduce the risks of infection Due to the low level of blood platelets, which is for blood clotting, the wound healing process will be slower. Therefore, patients should avoid activity that increases the risk of injury or trauma.

References:

https://emedicine.medscape.com/article/198759-treatment#d1 https://rarediseases.org/rare-diseases/acquired-aplastic-anemia/ https://www.mayoclinic.org/diseases-conditions/aplastic-anemia/diagnosis-treatment/drc-20355020

Other useful websites:

Patient Groups: Aplastic anemia & MDS International Foundationhttps://www.aamds.org/support/support-networks