To a aplastic anemia it occurs with a disorder of the bone marrow function. There is a shortage of red blood cells, white blood cells and blood cells.
What is aplastic anemia?
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Aplastic anemia occurs when there is a deficiency in red blood cells, leukocytes, and platelets due to a dysfunction of the bone marrow. This severe reduction in all blood cells is also called Pancytopenia designated. Pancytopenia includes leukopenia, anemia, and thrombocytopenia.
Every year around two people per million inhabitants develop aplastic anemia. It is a very rare disease. Aplastic anemia can be triggered by drugs, infections, and toxins. Anemia is very rarely congenital.
causes
Fanconi anemia and Diamond-Blackfan syndrome are examples of congenital aplastic anemia. Fanconi anemia is an autosomal recessive hereditary disease. It is based on a chromosome break. Diamond-Blackfan syndrome is also inherited. Here chromosomes 19 and 8 carry mutated genes.
However, acquired forms of aplastic anemia are more common. In more than 70 percent of cases, the cause is unknown. 10 percent of aplastic anemias are caused by drugs. Potential triggers include non-steroidal anti-inflammatory drugs or non-steroidal anti-inflammatory drugs (NSAID), phenzylbutazone, felbamate cholchicine, allopurinol, anti-thyroid drugs, sulfonaminde, gold supplements and phenytoin.
Another ten percent of the cases are due to chemical poisoning with pentachlorophenol, lindane or benzene. Ionizing radiation, for example as part of radiation therapy for cancer, can cause aplastic anemia. Five percent of anemias are caused by viruses. Viruses like parvovirus B19 and Epstein-Barr virus can be triggers.
It is discussed whether the majority of idiopathic cases, i.e. cases without an identifiable cause, can be attributed to an unknown virus. Since most patients do not develop aplastic anemia despite a viral infection or taking medication, a genetic predisposition is discussed.
According to more recent hypotheses, exogenous noxae such as chemicals, drugs or viruses lead to an autoimmunological reaction of the T lymphocytes against the blood-forming stem cells of the bone marrow if a certain genetic disposition is present.
Symptoms, ailments & signs
The symptoms of aplastic anemia are determined by the lack of red blood cells, platelets, and white blood cells. Due to the lack of red blood cells, affected patients feel tired. They suffer from headaches, weight loss, nausea, and difficulty concentrating.
They have difficulty breathing during exercise. The heart rate is increased (tachycardia). Occasionally dizziness occurs. Due to the lack of white blood cells, the function of the immune system is severely restricted. The susceptibility to infection increases dramatically. The oral and pharyngeal mucosa of the patient shows numerous ulcerations.
Necrotizing inflammation of the gums is also typical of aplastic anemia. Serious infections can occur over time. For example, severe pneumonia develops, from which patients hardly recover. In the worst case, sepsis occurs. The pathogens penetrate the bloodstream and a generalized infection develops.
The main responsible bacteria are Escherichia coli, Staphylococcus aureus and bacteria of the genera Klebsiella, Serratia or Enterobacter. The main symptom of sepsis is intermittent to high fever. In addition, there is rapid breathing, vomiting, chills and low blood pressure. With sepsis there is a life-threatening shock.
The platelets are usually responsible for blood clotting. The lack of platelets leads to an increased tendency to bleed. Patients develop large bruises even with minor impact injuries. In addition, punctiform bleeding into the skin, so-called petechiae, becomes visible. In women, the hemorrhagic diathesis manifests itself as a prolonged menstrual period.
Diagnosis & course
The clinical symptoms provide the first indications of aplastic anemia. If aplastic anemia is suspected, a laboratory blood test is performed. The blood count shows a reduced number of reticulocytes. Reticulocytes are a precursor to red blood cells. A deficiency indicates impaired bone marrow function. Due to the lack of red blood cells, the serum ferritin level is increased. This means that the storage iron in the serum is increased.
The hormone erythropoietin is also found in increased amounts in the blood serum and also in the urine. Erythropoietin is made by the kidneys to stimulate blood formation. A bone marrow biopsy may be done to help make the diagnosis of aplastic anemia. There are few or no cells that make red blood cells in the tissue sample taken. The bone marrow is rich in fat and low in cells.
If the disease is severe, only blood plasma and lymphocytes can be found in the bone marrow. If aplastic anemia is suspected, a careful medical history is always taken. This is the only way to rule out that the anemia is due to the use of drugs.
Complications
Aplastic anemia is a life-threatening condition that can have many complications. If left untreated, the outlook is very poor. More than two thirds die within a short time. However, after successful treatment, the chances of being able to lead a normal life increase again. However, age and granulocyte count play a large role in assessing the chances of recovery.
Treatment will be positive for most patients undergoing allogeneic hematopoietic stem cell transplantation. Even if there are no siblings available and stem cells are taken from an unrelated donor, a full recovery is possible. However, in about a quarter of all cases there are serious complications, often with fatal consequences.
The prospects for a healthy future are also good for patients who are treated with immunosuppressive methods. Four fifths survived the disease. However, half of these patients still have to have a transplant because they do not respond to the treatment, suffer a relapse or have to reckon with a secondary illness later. Since this is not a harmless treatment, lifelong follow-up examinations must be strictly followed. Only in this way can long-term effects be excluded.
When should you go to the doctor?
Headache, nausea, tiredness or weight loss may be aplastic anemia, which must be clarified and treated by a doctor. Other warning signs are poor performance and circulatory problems as well as tissue bleeding and infections. If more of these symptoms occur, a doctor should be consulted immediately.
While aplastic anemia is extremely rare, it progresses rapidly when it occurs. The more common anemia, i.e. classic anemia, must be diagnosed immediately due to its health risks and treated if necessary. It is therefore advisable to see a doctor as soon as the first symptoms of anemia appear.
A visit to the family doctor or neurologist is particularly urgent if there are other illnesses such as stomach and intestinal complaints, nervous disorders or mental changes. Any discoloration of the skin must be examined. The same applies to changes in the tongue and nails as well as general symptoms such as palpitations, shortness of breath and possible fainting spells.
If there is blood in the stool or urine, the nearest hospital must be visited immediately for further clarification. There it can be determined whether it is aplastic anemia or simple anemia. Detected early on, both forms can be treated well.
Doctors & therapists in your area
Treatment & Therapy
In aplastic anemia, symptomatic therapy with blood transfusions is the first step. These contain concentrate of red blood cells and platelets. The infusions are intended to counteract anemia and thrombocytopenia. Antibiotics are given to treat infections. In addition, broad-spectrum antibiotics are used to prevent further infections.
Since there is an increased tendency to bleed due to the platelet deficiency, patients must take care of themselves. Bleeding should always be prevented. To prevent further bone marrow destruction, patients are given immunosuppressants. Medicinal substances such as cortisone or cyclosporine are used here. Anti-T lymphocyte globulin therapy may be performed. Stem cell transplantation can be performed as a definitive therapy. Depending on the donor, the cure rate is over 70 percent.
Outlook & forecast
Aplastic anemia has an unfavorable prognosis. Without medical care, more than 2/3 of the sick die in the first few weeks or months of life. In the case of the hereditary disease, the organism cannot improve its well-being with its own means. This causes the physical strength to wane and the death of the child occurs.
Medical treatment can improve the patient's likelihood of survival. Nevertheless, there is an increased risk of death. If the organism is severely weakened, the body's own possibilities are insufficient. The prognosis improves in patients with a stable immune system and no other diseases.
Nevertheless, there is no cure for aplastic anemia with the current medical guidelines. For legal reasons, researchers and scientists are not allowed to actively intervene in human genetics. Therefore, medical professionals focus on providing basic patient care to enable them to live with the disease.
If the treatment is interrupted or suspended, the probability of survival drops drastically. The way of life must also be adapted to the needs of the body. Bleeding should be completely avoided as far as possible. The patient should not take unnecessary risks as there is always a risk of losing their life in an accident or fall.
prevention
Since the genetic predisposition is usually unknown, aplastic anemia can only be prevented with great difficulty.
Aftercare
Follow-up care is only possible to a very limited extent for this anemia. The patient is in any case dependent on permanent medical treatment, since if left untreated this disease can lead to death of the person concerned. In most cases, the anemia makes people dependent on blood transfusions.
It is also often necessary to take antibiotics and other drugs. Care should be taken to ensure that it is taken regularly, although parents must also check the intake of their children. When taking antibiotics, alcohol should also be avoided, otherwise their effect will be weakened. Whether a complete cure will be achieved in this anemia cannot generally be predicted.
In the very young or in children, this type of anemia can also be fatal. The development of depression must also be prevented.
You can do that yourself
Patients with aplastic anemia suffer from a life-threatening illness, so self-help measures are not the focus. Rather, those affected contact a doctor or emergency doctor immediately after registering the first symptoms of the disease. The start of treatment often has a decisive effect on the further course and prognosis.
An inpatient stay in a clinic is usually necessary, with the patients receiving transfusions, for example. During the entire treatment period, physical rest is essential for those affected. The bleeding tendency is greatly increased, so that even small injuries or bumps can cause complications.
The sick patients are usually given antibiotics to avoid various infections. The natural physical defenses are significantly reduced by the disease, so that those affected avoid contact with a large number of people. This often affects the hospital visiting rules, which patients strictly follow.
Successful treatment of the condition does not mean that there are no further complications. That is why the patients usually have follow-up examinations for the rest of their lives in order to check the state of health after the illness and to treat any complaints quickly. Since the patients are usually very weak, intensive exercise is not indicated for some time after the therapy.
