The hereditary disease Fanconi anemia occurs in very rare cases. Under appropriate circumstances, the disease can be cured.
What is Fanconi anemia?
Fanconi anemia is the medical term for an inherited form of anemia (anemia). In the context of this very rare hereditary disease, the production of red and white blood cells is impaired in affected individuals. In addition, in many cases Fanconi anemia leads to increased degradation of existing blood cells. Fanconi anemia was named after the Swiss pediatrician Guido Fanconi. Fanconi anemia does not manifest itself in the same way in every affected person; therefore, different subgroups of the disease are defined in medicine. It is estimated that within Germany only 5 to 10 out of 1,000,000 newborns are affected by Fanconi anemia. Typical symptoms that may be associated with the disease include malformations, a comparatively small head circumference, and/or a regression of the bone marrow. Those affected by Fanconi anemia are usually more susceptible to infections and exhibit a noticeable pallor.
Causes
Fanconi anemia is caused by an inherited genetic defect. In this case, the risk of passing on the genetic defect through the parents exists only if both mother and father are carriers of the defect – in many cases, however, carriers of the genetic defect underlying Fanconi anemia do not themselves have the disease and are therefore often unaware of the defect that they may inherit. If both parents are carriers of the corresponding genetic defect, there is an approximate 25% risk that a pregnancy will result in Fanconi anemia in the child.
Symptoms, complaints, and signs
Fanconi anemia is associated with very severe symptoms, all of which have a very negative impact on the quality of life of the affected person. As a rule, the patients thereby suffer from various malformations that are already congenital and thus lead to complaints at a young age. The malformations can affect different regions, so that arms, ears, kidneys and heart are frequently affected. If Fanconi anemia is not treated at the beginning, it can in the worst case lead to the death of the child, who will then die of kidney failure. Often, patients also suffer from a very small head or short stature due to Fanconi anemia. As a result, many patients do not feel beautiful and therefore also suffer from inferiority complexes or significantly lowered self-esteem. Likewise, the risk of leukemia increases significantly due to this disease, so that many affected people also fall ill with this disease. Furthermore, Fanconi anemia leads to a severe regression of the bone marrow and furthermore to pigment disorders on the skin. Not only the affected persons themselves, but also the parents and relatives suffer from severe psychological discomfort with this disease. As a rule, the life expectancy of the affected person is reduced by Fanconi anemia.
Diagnosis and course
In many cases, the suspected diagnosis of Fanconi anemia can already be made on the basis of typical symptoms. In addition to the symptoms mentioned, these also include a slight squint angle in affected individuals or light, brownish pigment spots (also known as café on lait spots). The suspected diagnosis can then be confirmed primarily by performing a so-called chromosome breakage analysis; for example, blood cells taken from a patient are chemically manipulated in such a way that their lower survival rate (a marker for the presence of Fanconi anemia) is revealed. In further steps, imaging techniques such as ultrasound are used to determine, for example, the form and extent of malformations of internal organs. Depending on the form of Fanconi anemia, the course of the disease also differs. In most cases, however, regressions of the bone marrow begin in affected children at the age of about 3-5 years and increase during the course of the disease. Advances in medicine have made it possible to cure Fanconi anemia in some cases through measures such as bone marrow transplants; however, because affected individuals still have cells remaining in their bodies that have the genetic defect, there is still an increased risk of developing tumors (tissue neoplasms), for example.
When should one go to the doctor?
Fanconi anemia is usually diagnosed and treated shortly after birth. Regular visits to the doctor are indicated during the first years of life, because the symptoms are multifaceted and must be treated individually. In most cases, further malformations and abnormalities occur in early childhood, which must be clarified and treated. If the child complains of pain or unusual symptoms occur, the appropriate physician should be consulted. With cardiovascular complaints and signs of kidney or liver disease, the child is best taken to the nearest clinic. The doctor in charge can use imaging techniques to determine if there are any malformations of the internal organs and take the necessary steps. Fanconi anemia thus requires comprehensive monitoring and treatment by a specialist in any case. Since various disorders are usually present, other physicians must be consulted. In the case of pigmentation disorders, for example, the dermatologist can be consulted, while malformations of the heart can be treated by a cardiologist or an internist.
Treatment and therapy
One possible therapeutic component in the treatment of Fanconi anemia is the administration of androgen preparations, that is, preparations containing male sex hormones produced by artificial means. In many patients, these preparations help to stabilize blood formation over a period of up to several years despite the presence of Fanconi anemia. However, since androgen preparations can also have side effects, it is possible that the corresponding medication may have to be reduced or completely discontinued in various affected individuals. One method that can lead to a cure of Fanconi anemia is the transplantation of healthy bone marrow from suitable donors. According to experts, the chances of therapeutic success are comparatively higher if the bone marrow donor is a sibling, i.e. a close relative. Accompanying treatment of the underlying disease, therapy of symptoms occurring in the context of Fanconi anemia takes place in coordination with the complaint situation of an individual affected person.
Outlook and prognosis
Existing Fanconi anemia is a malformation syndrome that occurs very rarely. Affected individuals are small in stature from birth and suffer from a wide variety of malformations of all types. The prospect and prognosis of a complete cure depends solely on a bone marrow transplant. If a bone marrow transplant takes place, the affected person can be completely cured of Fanconi anemia. The course of the disease is different if no bone marrow transplantation takes place. In such a case, considerable complications are to be expected. People with existing Fanconi anemia are particularly susceptible to the formation of individual tumors. Therefore, if bone marrow transplantation cannot take place, then medical and drug treatment should definitely take place. This is the only way to keep the life of the affected person worth living. If such treatment is completely omitted, there is even an acute danger to life. Under certain circumstances, malignant tumors may form and spread throughout the entire body. The existing malformation must also be treated permanently to prevent later complications. Affected persons suffering from Fanconi anemia should immediately resort to medical and drug treatment. This can positively influence the overall course of the disease.
Prevention
To prevent hereditary diseases such as Fanconi anemia to a certain extent, couples who wish to have children can, for example, have their own genes analyzed. This can determine whether both parents are carriers of the genetic defect underlying Fanconi anemia. If the genetic defect is present in both parents, for example, medical genetic counseling sessions offer the opportunity to learn about risks and possible courses of action.
Follow-up
In most cases of Fanconi anemia, patients have very few options for aftercare. In this regard, affected individuals are primarily dependent on medical treatment of this disease to prevent further complications and discomfort, as this cannot result in self-healing. In some cases, a complete cure can be achieved in the process.The patient’s life expectancy is usually not reduced by Fanconi anemia if the disease is treated properly. Those affected are dependent on taking medications and preparations that alleviate the symptoms. Side effects may occur, which should be regularly checked by a doctor. When taking the medication, it is also important to ensure that the correct dosage is taken and that it is taken regularly in order to prevent complications. By treating the symptoms, the daily life of the affected person can be made easier. Since Fanconi anemia can also lead to deformities, some affected individuals require surgical interventions to correct these deformities. In this case, the patient should rest and take care of the body after the surgery. Intensive treatment and care by one’s family or friends can also have a very positive effect on the course of Fanconi anemia.
What you can do yourself
In Fanconi anemia, there are no particular self-help options available to the patient. The disease itself can only be prevented to a very limited extent. Prevention is possible mainly through genetic analysis, which should be performed before having children. This may possibly prevent Fanconi anemia in the child. However, patients are usually dependent on taking medication to alleviate the symptoms. A bone marrow donation can also have a positive effect on the course of the disease. Since those affected also suffer from pigmentation disorders, direct sunlight should be avoided. Patients must wear protective clothing and ideally also sunscreen to avoid further skin complaints. Conversations with other sufferers of this disease can also alleviate possible psychological discomfort. In the case of children, sensitive discussions with parents are necessary to explain the further course of the disease. Possible risks and complications can also be mentioned. Children may suffer from bullying and teasing due to the symptoms and should therefore seek psychological counseling. Help and support from friends and family also has a positive effect on Fanconi anemia.
