Aplastic anemia

Aplastic Anemia is a rare disease in which the bone marrow stops producing enough 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 .

Hypocellular bone marrow showed only a little hematopoesis and many fat cells

There are fewer than 20,000 cases a year in the US. Aplastic Anemia can be treated by a medical professional. The blood disease is not always deadly, but can be after lots of bleeding both internal and external.

Symptoms

The symptoms of aplastic anemia vary depending on how severe it is and how low blood counts are. Signs and symptoms may include: Low numbers of red blood cells (anemia): May cause paleness (pallor), headache, palpitations, rapid heart rate, feeling out of breath, fatigue, or foot swelling.

Low numbers of platelets (thrmbocytopenia): May result in gum bleeding, nosebleeds or bleeding in the internal organs and skin bruises. Low  white blood cells (neutropenia): May present infections, recurrent infections, mouth sores.

100% of people have these symptoms

• Anemia(Low number of red blood cells or hemoglobin)
• Aplastic anemia

80%-99% of people have these symptoms

• Bone marrow hypocellularity (Bone marrow failure)

30%-79% of people have these symptoms

• Pancytopenia (Low blood cell count)
• Reticulocytopenia

Diagnosis

The condition needs to be differentiated from pure red cell aplasia. In aplastic anemia, the patient has pancytopenia (i.e., leukopenia and thrombocytopenia) resulting in decrease of all formed elements. In contrast, pure red cell aplasia is characterized by reduction in red cells only. The diagnosis can only be confirmed on bone marrow examination. Before this procedure is undertaken, a patient will generally have had other blood tests to find diagnostic clues, including a complete blood count, renal function and electrolytes, liver enzymes, thyroid function tests, vitamin B₁₂ and folic acid levels.

The following tests aid in determining differential diagnosis for aplastic anemia:

1. Bone marrow aspirate and biopsy: to rule out other causes of pancytopenia (i.e. neoplastic infiltration or significant myelofibrosis).
2. History of iatrogenic exposure to cytotoxic chemotherapy: can cause transient bone marrow suppression
3. X-rays, computed tomography (CT) scans, or ultrasound imaging tests: enlarged lymph nodes (sign of lymphoma), kidneys and bones in arms and hands (abnormal in Fanconi anemia)
4. Chest X-ray: infections
5. Liver tests: liver diseases
6. Viral studies: viral infections
7. Vitamin B₁₂ and folate levels: vitamin deficiency
8. Blood tests for paroxysmal nocturnal hemoglobinuria
9. Test for antibodies: immune competency

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:

• Blood transfusions to keep blood cells 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 transplant 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. Medications to stimulate the bone marrow, suppress the immune system , and prevent and treat infections For patients with severe aplastic anemia who are under the age of 20 years, and those ages 20 to 50 years who are otherwise in good health the first option is the transplant when a sibling donor is available. For those who do not have an available sibling donor, the medication eltrombopag or eltrombopag plus immunesuppression therapy can be used.

For patients over 50 years of age, the decision is based on the patient’s overall health, and preferences, and treatment may include eltrombopag or eltrombopag plus immunesuppression therapy (horse anti-thymocyte globulin (ATG), cyclosporin A (CSA), and glucocorticoids). People older than 50 years old have more risks of having rejection with the transplant and have greater risks of treatment toxicity and early mortality.

New FDA approved medications

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

Eltrombopag (Brand name: Promacta) Eltrombopag (Promacta) was approved in combination with standard immunosuppressive therapy for the first-line treatment of adult and pediatric patients 2 years and older with severe aplastic anemia.

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 transplantation 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.

Aplastic anemia Resources
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NIH genetic and rare disease info

• NIH info on Aplastic anemia

Aplastic anemia is a rare disease.