Aplastic anemia is a disease of the hematopoietic system. In the majority of cases, the onset of the disease is immunological. Overall, aplastic anemia is an extremely rare disease. In Europe, about 2-3 people per one million population show the clinical picture.
Specialists in the Field of Aplastic Anemia
Information About the Field of Aplastic Anemia
What Is Aplastic Anemia?
Aplastic anemia is a disease of the hematopoietic system. The term 'aplastic' comes from the ancient Greek meaning 'not developed' or 'lacking' and refers to the disease's lack of maturation of blood cells. Anemia is characterized in aplastic anemia by what is called pancytopenia, a reduction in all cell series. In this case, the cell loss results from a disturbance in bone marrow function.
This bone marrow insufficiency leads to a reduced formation of red and white blood cells and platelets, which serve for blood clotting. If these series of cells are absent from the blood, various symptoms of the deficiency may occur. The condition can be acquired, meaning it occurs at all ages or is congenital. In the hereditary forms, rare syndromes of hematopoiesis disorder and stem cell defects should be excluded.
Causes and Symptoms
In the majority of cases, the occurrence of the disease is immunological. That means, due to an autoimmune genesis of unknown origin, there is a malfunction of the immune system with an attack on the patient's bone marrow cells.
In significantly fewer patients, however, the disease occurs secondarily. This means that there is an initial trigger that has led to the onset of the clinical picture. These triggers can be very diverse, infection with certain viruses, radiation exposure, exposure to toxins such as benzenes, and the condition after a hepatitis disease can contribute. Likewise, a more frequent occurrence has been observed with hormonal changes, such as during pregnancy.
Symptoms can occur suddenly or have a slow, insidious course. Patients complain of fatigue, exhaustion, pallor, deterioration in performance, shortness of breath on exertion, and dizziness. These symptoms result from the decreased red blood cells responsible for transporting oxygen to the organs.
The loss of white blood cells causes an increased tendency to infection since reducing white blood cells means a weakening of the immune system. In addition, the absence of platelets causes an increased tendency to bleed. Patients notice this in increased bruising, small hemorrhages in the skin, bleeding gums and nose, and increased menstrual bleeding.
Diagnosis and Treatment
A detailed patient interview and physical examination are performed to determine the diagnosis. A blood smear can then be taken from a vein. In this way, the blood count can be examined more closely, and anemia can be diagnosed. A bone marrow puncture can now be performed for further searching the causes of the anemia. The sample is usually taken from the patient's iliac crest. Likewise, a genetic examination can provide more precise information about the origin of the disease. Unfortunately, the genetic examination is mostly inconspicuous in the acquired forms of the disease.
There are two major treatment options for aplastic anemia. The disease can be cured with the help of a stem cell transplant . However, this procedure is only possible if a suitable donor can be found. Because of its intensity, it is usually used only for younger patients. The second therapeutic option is a downregulation of the overshooting immune system, the so-called immunosuppression. This is the first choice, especially in older patients, but it can only keep the disease under control, not cure it.
Similarly, immunosuppression can lead to a new outbreak of the disease or the occurrence of secondary diseases. Immunosuppressive treatment is initially carried out in the hospital for a few days, and later patients are cared for in an outpatient setting. Consistent and rapid treatment of bacterial or fungal infections that have occurred is of great importance, as these can take a potentially severe course. Due to immunosuppression, the cell series can now generally recover well.
Generally, aplastic anemia may result in the need for blood transfusions.
The Course of the Disease and Prognosis
Without treatment, the disease is associated with progressive deterioration and may ultimately lead to the patient's death. There are mild and very pronounced forms of aplastic anemia. The prognosis depends on the severity of the disease and is classified according to the remaining cell count. In very mild conditions, spontaneous recovery of the bone marrow has been described in rare cases. In severe cases, the disease is fatal without stem cell transplantation. Nevertheless, stem cell transplantation is an intensive and stressful therapy that can also be associated with severe and fatal complications. Therefore, the therapy options and possible consequences should be discussed in detail with the patient in advance.
Which Doctors and Clinics are Specialized in Aplastic Anemia?
Every patient who needs a doctor wants the best medical care. Therefore, the patient is wondering where to find the best clinic. As this question cannot be answered objectively and a reliable doctor would never claim to be the best one, we can only rely on the doctor's experience.
We will help you find an expert for your condition. All listed doctors and clinics have been reviewed by us for their outstanding specialization in aplastic anemia and are awaiting your inquiry or request for treatment.
- Harrisons Innere Medizin. 19. Auflage. Berlin: ABW Wissenschaftsverlag; 2016.
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