Aplastic anemia is a rare disease of the bone marrow in which too few (hypoplasia) or no (aplasia) blood cells are produced. If left untreated, severe forms of the disease can lead to death. More on the symptoms of aplastic anemia and how to treat them.
At a glance:
Blood count: important values and what they mean
What is aplastic anemia?
Aplastic anemia is a serious disease of the bone marrow in which the production of blood cells in the bone marrow is impaired. As a result, too few or no red blood cells (erythrocytes), white blood cells (leukocytes) and blood platelets (thrombocytes) are produced. This sharp decrease in all three types of blood cells is also known as pancytopenia. Since the blood cells regulate vital functions such as oxygen transport, immune defense and blood clotting, weakness, susceptibility to infection or disturbed hemostasis can occur.
Depending on how severe the lack of blood cells is, aplastic anemia is divided into three degrees of severity:
- Non severe aplastic anemia (nSAA; non severe aplastic anemia)
- Severe aplastic anemia (SAA)
- Very severe aplastic anemia (vSAA; very severe aplastic anemia)
Aplastic anemia is a very rare disease that can occur at any age. In Germany, around two to three out of a million people fall ill every year. In most cases the cause is unknown. But there are also rare congenital variants of aplastic anemia.
If aplastic anemia is treated, the prognosis for a cure nowadays is good. If left untreated, however, it can be fatal.
Causes of Aplastic Anemia
It is often unclear why some people develop aplastic anemia. In more than 80 percent of the cases, no triggering factor can be identified. Then one speaks of a so-called idiopathic aplastic anemia. It is believed, however, that the aplastic anemia could be triggered by an autoimmune disease in which the immune system targets the blood-forming stem cells in the bone marrow.
The disease is rarely caused by identifiable triggers. Then one speaks of a secondary aplastic anemia. The triggering factors are
Congenital aplastic anemia
In less than one percent of cases, there may also be an inherited form of aplastic anemia, for example as a side effect of Fanconi anemia, Shwachman-Bodian-Diamond syndrome or Zinsser-Cole-Engman syndrome (dyskeratosis congenita). These blood disorders are very rare and are caused by genetic defects. Due to inheritance, the first symptoms often appear in early childhood.
Symptoms of aplastic anemia
Aplastic anemia is rarely acute. Symptoms tend to develop slowly over the course of several weeks to months. The signs may vary depending on which type of blood cell is decreased or absent. The symptoms can appear individually or in combination:
Symptoms of a lack of red blood cells (anemia):
- Performance degradation
- Racing heart
- shortness of breath
Symptoms of a lack of white blood cells (leukopenia):
- Susceptibility to febrile infections in the ear, nose and throat area, such as thrush, tonsillitis and canker sores
- Urinary tract infections
- Skin infections
Basically, these infections occur more frequently in those affected than in healthy people. They are often more severe and can even be life-threatening.
Symptoms of a lack of blood platelets (thrombocytopenia):
- Increased tendency to bruises (hematomas) and small bleeding into the skin (petechiae)
- Bleeding gums
- Prolonged menstrual bleeding
Diagnostics in aplastic anemia
If anemia is suspected, the general practitioner will carry out a blood test. If the blood count shows irregularities such as a reduced number of blood cells, the bone marrow is examined with a bone marrow aspiration. This is usually carried out by a specialist in hematology and oncology. Likewise, further examinations to determine the severity of aplastic anemia and possible causes or to rule out other diseases in which there is also a reduced formation of blood cells. These include, for example, leukemia or malignant lymphomas.
Aplastic anemia: treatment
The therapy depends on the cause and the severity of the disease. If aplastic anemia is not severe, treatment is often not given initially. The life expectancy of those affected is hardly affected even without therapy. However, their blood count is monitored regularly.
If drugs or viral infections are suspected to be triggers, these will be discontinued or treated. This allows the bone marrow function to recover. If this is not the case, further therapy is necessary.
Treatment is also required for severe or very severe aplastic anemia. There are two therapeutic measures available for treating the disease: stem cell donation and so-called immunosuppressive therapy.
Stem cell donation
In the Stem cell donation the non-functional bone marrow is replaced by healthy stem cells. Stem cell donation is the therapy of choice, especially for people who are sick up to the age of 50. Provided there is a donor in the family who has the same so-called HL antigens. The greatest chances are with a brother or sister of the sick person. In order to compare the HLA characteristics, a typing of the sick person and the potential donor is necessary.
Sick people who are younger than 30 and have no one in their family who is eligible for stem cell donation can also receive stem cells from an unrelated HLA-identical donor.
Immunosuppressive therapy is a drug therapy. It is mainly used with sick people who are over 50 years old or who are not eligible for a stem cell donation. Certain drugs are used that suppress the immune system. This is intended to achieve a regeneration of the bone marrow stem cells. The blood values usually improve about three to four months after the start of therapy.
Other supportive therapies
In the case of very severe aplastic anemia and in addition to immunosuppressive therapy, other supportive, so-called supportive therapies are carried out. These are intended to improve the chances of survival of those affected. These include:
- Blood transfusions to temporarily replace missing blood cells
- Infection prophylaxis with antibiotics and antimycotics to prevent bacterial and fungal infections
Prognosis and life expectancy in aplastic anemia
Although aplastic anemia is a life-threatening condition, the prospects for a cure are good. After a stem cell transplant, 80 to 90 percent of those affected can lead a normal life again. With immunosuppressive therapy, on the other hand, there is a relapse in around 50 percent of cases. These patients then usually receive a stem cell transplant. Without treatment, however, the severe forms of aplastic anemia often lead to death.
Ferrous foods: These eleven provide a lot of iron