Aplastic anemia
ORPHANET code: 397692
Group: Erythropoietic defects
Subgroup: Aplastic anaemia
- What causes the disease and how common is it?
Aplastic anemia (AA) is a disease due to stem cell and bone marrow damage that produces the inability of the stem cells to generate the mature blood cells. This causes a deficiency of all three blood cell types (pancytopaenia): red blood cells (RBCs) , leukocytes and platelets. .It is most prevalent in people in their teens and twenties, but is also common among the elderly. It can be caused by exposure to chemicals, drugs, radiation, infection, immune disease, and heredity; in about half the cases, the cause is unknown. The definitive diagnosis is by bone marrow biopsy; normal bone marrow has 30-70% blood stem cells, but in AA these cells are mostly gone and replaced by fat AA is a very rare disease. Findings from several retrospective studies usually overlap those from Europe and suggest that the incidence is 0.6-6.1 cases per million population; this rate is largely based on data from retrospective reviews of death registries. - What are the most frequent symptoms if I have the disease?
The clinical presentation of patients with AA includes symptoms related to the decrease in bone marrow production of hematopoietic cells. The onset is insidious, and the initial symptom is frequently related to anemia or bleeding, although fever or infections may be noted at presentation.: Pallor, headache, palpitations, dispnea, fatigue, foot swelling, gingival bleeding, petechial rashes, overt and/or recurrent infections, oropharyngeal ulcerations. A subset of patients with AA present with jaundice and evidence of haemolysis due to paroxystic nocturnal haemoglobinuria (PNH). - Which treatment must I follow if I have the disease?
First line treatment for aplastic anemia consists of immunosuppressive drugs, typically either anti-lymphocyte globulin or anti-thymocyte globulin, combined with corticosteroids and cyclosporine. Hematopoietic stem cell transplantation is also used, especially for patients under 30 years of age with a related, matched marrow donor. - What is the risk of passing the condition on to my children?
This is an acquired disorder.
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