Aplastic anemia occurs when there is a disturbance in bone marrow function. There is a deficiency of red blood cells, white blood cells, and blood cells.
What is aplastic anemia?
Aplastic anemia is when there is a deficiency of red blood cells, white blood cells, and platelets due to bone marrow dysfunction. This severe reduction in all blood cells is also known as pancytopenia. Pancytopenia includes leukopenia, anemia and thrombocytopenia. Each year, about two people per million population develop aplastic anemia. It is thus a very rare disease. Aplastic anemias can be triggered by drugs, infections and toxins. Very rarely, the anemia is congenital.
Causes
Fanconi anemia and Diamond-Blackfan syndrome are examples of congenital aplastic anemias. Fanconi anemia is an autosomal recessive inherited disorder. It is based on a chromosomal break. Diamond-Blackfan syndrome is also inherited. Here, chromosomes 19 and 8 carry mutated genes. However, the acquired forms of aplastic anemia occur more frequently. In more than 70 percent of cases, the cause is unknown. Ten 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, thyrostatic drugs, sulfonamines, gold preparations and phenytoin. Another ten percent of cases of illness are due to chemical poisoning with pentachlorophenol, lindane or benzene. Ionizing radiation, for example in the course of radiation therapy for cancer, can also cause aplastic anemia. Five percent of anemias are caused by viruses. Viruses such as parvovirus B19 and Epstein-Barr virus can be triggers. It is debated whether it is possible that the large number of idiopathic cases, i.e., cases without an identifiable cause, are due to an unknown virus. Since most patients do not develop aplastic anemia despite viral infection or medication, a genetic predisposition is discussed. According to recent hypotheses, exogenous noxious agents such as chemicals, drugs, or viruses lead to an autoimmunologic reaction of T lymphocytes against the hematopoietic stem cells of the bone marrow in the presence of a specific genetic predisposition.
Symptoms, complaints, and signs
The symptoms of aplastic anemia are determined by the deficiency 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 concentration problems. Under stress, they have difficulty breathing. 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 impaired. The tendency to infection increases dramatically. The oral and pharyngeal mucosa of the patients shows numerous ulcerations. Necrotizing inflammation of the gums is also typical of aplastic anemia. In the course, severe infections may occur. 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 bacteria responsible are Escherichia coli, Staphylococcus aureus and bacteria of the genera Klebsiella, Serratia or Enterobacter. The leading symptom of sepsis is intermittent to high fever. In addition, rapid breathing, vomiting, chills, and low blood pressure are evident. In sepsis, life-threatening shock is imminent. Platelets are normally responsible for blood clotting. The lack of platelets leads to an increased tendency to bleed. Patients develop large hematomas even from minor impact injuries. In addition, punctiform hemorrhages in the skin, so-called petechiae, become visible. In women, hemorrhagic diathesis is manifested by prolonged menstruation.
Diagnosis and course
Initial evidence of aplastic anemia is provided by clinical symptoms. If aplastic anemia is suspected, a laboratory examination of the blood is performed. The blood count will show a decreased number of reticulocytes. Reticulocytes are a precursor of red blood cells.A deficiency indicates impaired bone marrow function. Due to the lack of red blood cells, the serum ferritin level is elevated. This means that the storage iron in the serum is increased. The hormone erythropoietin is also increased in the blood serum and also in the urine. Erythropoietin is produced by the kidney to stimulate blood formation. To confirm the diagnosis of aplastic anemia, a bone marrow biopsy can be performed. Few or no cells that make red blood cells are found in the tissue sample taken. The bone marrow is rich in fat and poor in cells. If the disease is severe, only blood plasma and lymphocytes are found in the bone marrow. If aplastic anemia is suspected, a careful medication history is also always taken. This is the only way to exclude the possibility that the anemia is due to the use of medications.
Complications
Aplastic anemia is a life-threatening disease that can cause a great many complications. If left untreated, the outlook is very poor. More than two-thirds die within a short time. After successful treatment, however, the chances of being able to lead a normal life again increase. However, age and granulocyte count play a major role in assessing the prospects of cure. Most patients who undergo allogeneic hematopoietic stem cell transplantation have a positive outcome. Even if no siblings are available and stem cells are taken from a foreign donor, a complete recovery is possible. However, severe complications still occur in about a quarter of cases, often resulting in death. Even for patients receiving immunosuppressive treatment, the prospects for a healthy future are considered good. Four-fifths survive the disease. However, half of these patients still require transplantation because they do not respond to treatment, relapse, or later develop a secondary disease. Since this is not a harmless treatment, lifelong follow-up examinations must be strictly adhered to. This is the only way to rule out late sequelae.
When should one go to the doctor?
Headache nausea, fatigue, or weight loss may indicate aplastic anemia, which must be evaluated and treated by a physician. Other warning signs include poor performance and circulatory problems, as well as tissue hemorrhage and infection. If several of these symptoms occur, a physician must be consulted immediately. Although aplastic anemia is extremely rare, it is rapidly progressive when it occurs. More common anemia, i.e., classic anemia, must also be diagnosed immediately and treated if necessary because of its health hazards. Accordingly, it is 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 other illnesses such as stomach and intestinal complaints, nervous disorders or mental changes are also present. 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. If detected early, both forms can be treated well.
Treatment and therapy
In aplastic anemia, symptomatic therapy is initially given with blood transfusions. These contain concentrated red cells and platelets. The infusions are intended to counteract the anemia and thrombocytopenia. Antibiotics are administered to treat infections. In addition, broad-spectrum antibiotics are used to prevent further infections. Since there is an increased tendency to bleed due to platelet deficiency, patients must take it easy. Bleeding should be prevented in all cases. To prevent further destruction of the bone marrow, patients receive immunosuppressants. Drugs such as cortisone or ciclosporin are used. In some circumstances, anti-T lymphocyte globulin therapy is administered. As a definitive therapy, stem cell transplantation may be performed. Depending on the donor, the cure rate is over 70 percent.
Outlook and prognosis
Aplastic anemia has an unfavorable prognostic outlook. Without medical care, more than 2/3 of those with the disease die in the first weeks or months of life. In the case of the hereditary disease, the organism cannot improve its well-being by its own means. This leads to the loss of physical strength and the death of the child. With medical treatment, the probability of the patient’s survival can be improved. Nevertheless, there is an increased danger of life. If the organism is severely weakened, the body’s own possibilities are not sufficient. The prognosis improves in patients with a stable immune system and no other diseases. Nevertheless, with the current medical guidelines, there is no cure for aplastic anemia. For legal reasons, researchers and scientists are not allowed to actively interfere with human genetics. Therefore, medical professionals focus on basic care for the patient to enable them to live with the disease. If treatment is interrupted or suspended, the likelihood of survival decreases dramatically. The lifestyle must additionally 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 life in an accident or fall.
Prevention
Because the genetic predisposition is usually unknown, aplastic anemia is difficult to prevent.
Follow-up care
In this anemia, follow-up care is very limited. In any case, the patient is dependent on permanent medical treatment, because if left untreated, this disease can cause the death of the affected person. In most cases, affected persons are dependent on blood transfusions due to the anemia. It is also often necessary to take antibiotics and other medications. Care should be taken to ensure that they are taken regularly, and parents must also check their children’s intake. 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 be generally predicted. In very young people or in children, this type of anemia can also lead to death. In this case, the development of depression can also be prevented.
This is what you can do yourself
Patients with aplastic anemia suffer from a life-threatening disease, so self-help measures are not a priority. Rather, those affected should contact a physician or emergency room doctor immediately after the first symptoms of the disease are registered. This is because the start of treatment often has a decisive effect on the further course as well as the prognosis. Usually, an inpatient stay in a clinic is required, during which patients receive transfusions, for example. During the entire treatment period, physical rest is essential for those affected. The tendency to bleed is greatly increased, so that even minor injuries or bumps can cause complications. Patients are usually given antibiotics to prevent various infections. The natural physical defenses are significantly reduced by the disease, so that those affected also avoid contact with large numbers of people. This often affects the visiting order in the hospital, which the patients strictly follow. Successful treatment of the disease does not mean that no further complications will arise. Therefore, patients usually attend follow-up examinations throughout their lives in order to monitor their health status after the disease and to treat any complaints quickly. Since patients are usually severely weakened, intensive sports are not indicated for some time after therapy.
