Diamond-Blackfan syndrome is an anemic disorder, although the cause is still unclear. Diamond-Blackfan syndrome can be treated relatively well and sometimes even cured. However, preventive measures are not possible.
What is Diamond-Blackfan syndrome?
The medical profession refers to Diamond-Blackfan syndrome – also known as erythrogenesis imperfecta or chronic congenital hypoplastic anemia and Diamond-Blackfan anemia (DBA for short) – as chronic anemia, characterized by a low number of red blood cells present in the blood. Diamond-Blackfan syndrome occurs predominantly at the beginning of the first year of life.
Causes
Diamond-Blackfan syndrome is an anemic disorder and a so-called special form of the well-known aplastic anemia, which subsequently exhibits a selective disorder of red blood cell production. Diamond-Blackfan syndrome is inherited either autosomal-dominant or autosomal-recessive. In this case, the alteration or mutation is located on chromosome 19 (position 13). In many cases, however, Diamond-Blackfan syndrome is not inherited, but occurs sporadically (spontaneous mutation). In only 15 percent of all cases is there inheritance from one parent. To date, the actual cause of why Diamond-Blackfan syndrome occurs is not known. However, physicians suspect that it is a congenital anomaly of the so-called erythrocytic stem cells. Due to the anomaly, the erythrocytic stem cells, which are located in the bone marrow, are undersupplied, so that, as a consequence, there is also a low number of red blood cells. Due to the fact that the cause is not known, physicians mainly act with symptomatic therapy or prevention of the syndrome is not possible. However, even if the cause of Diamond-Blackfan syndrome is not known, physicians may very well be able to cure the disease.
Symptoms, complaints, and signs
Diamond-Blackfan syndrome occurs predominantly during the first six months; in 50 percent of all cases, the first symptoms appear after three months of life. About one-fifth of cases, Diamond-Blackfan syndrome is already detectable after birth, as newborns are born with the “typical pallor.” In many cases, those affected by Diamond-Blackfan syndrome suffer from malformations. For example, doctors detect microcephaly (a very small skull), cleft lip and palate, or very small eyeballs (microphthalmos). Sometimes hypertelorism (eyes that are very wide apart) or an unnaturally high palate can also be diagnosed; all of these items are classic for Diamond-Blackfan syndrome. Furthermore, 50 percent of all affected persons are short in stature; about one third of the affected persons suffer from a heart defect or have malformations of the fingers or thumbs and malformations of the kidneys. Sometimes mental development may also be delayed. The course of the disease is positive. Of course, there are also strong expressions; however, as a rule, the Diamond-Blackfan syndrome can be well treated or sometimes even cured.
Diagnosis
A characteristic feature of Diamond-Blackfan syndrome is the so-called erythroblast deficiency. Congenital erythroblastophthisis (erythropoietic tissue in the bone marrow recedes) with reticulocytopenia, any malformations of the sexual tract, or even the classic facial expression of the affected person (pseudomongoloid habitus) are typical features of Diamond-Blackfan syndrome. Other signs that suggest Diamond-Blackfan syndrome include: Microcephalus, gothic palate, microphthalmos, or even hypertelorism. Even though these are classic features, the medical professional must also have blood tests done. Blood tests can be used to determine whether or not Diamond-Blackfan syndrome is present. While unaffected individuals have a hemoglobin (Hb) level above 11 g/dL, the level in Diamond-Blackfan syndrome is below 6 g/dL. By means of blood tests and bone marrow puncture, which can detect the changes, the physician can make the diagnosis of Diamond-Blackfan syndrome. In about 20 to 25 percent of all cases, Diamond-Blackfan syndrome can also be diagnosed by genetic testing. In this case, the physician detects a mutation of the so-called RPS19 gene, which subsequently triggers Diamond-Blackfan syndrome.
Complications
Diamond-Blackfan syndrome already occurs in babies and children at a very young age and leads to extreme pallor in the face and also man whole body. Furthermore, many patients also suffer from small eyeballs or eyes that are relatively wide apart, so that the patient’s self-esteem is also reduced by the syndrome. Often there is also a cleft lip and palate. Affected individuals also have short stature and suffer from various heart defects. The heart defects can reduce life expectancy. In rare cases, Diamond-Blackfan syndrome also limits the child’s psychological development, and retardation may occur. Diamond-Blackfan syndrome can be treated relatively well by cortisone, and in most cases treatment leads to a positive course of the disease. Severe cases can also be treated by bone marrow transplantation. In this case, the syndrome can possibly be cured completely, so that there are no further complications in the course of life. The heart defect should be regularly examined by a doctor and treated if necessary so that no complications arise from it.
When should you see a doctor?
Children born with malformations should always be examined and placed under medical observation. If the typical signs – including very small eyeballs, widely spaced eyes or cleft lip and palate – are joined by conspicuous facial pallor, Diamond-Blackfan syndrome may be present. In this case, parents should talk to the pediatrician immediately. Symptoms such as short stature, malformations of the fingers and signs of kidney or heart disease are also best clarified immediately. If the syndrome is detected and treated at an early stage, the chances of recovery are generally relatively good. That is why it is important to see a doctor as soon as the above-mentioned symptoms are noticed. If the symptoms of the syndrome recur later in life, medical clarification is necessary in any case. In addition, psychological support should be sought, since Diamond Black Syndrome often leads to psychological complaints such as depression or inferiority complexes. If cardiovascular complaints or signs of kidney failure become apparent, the emergency physician must be alerted immediately.
Treatment and therapy
Diamond-Blackfan syndrome can be treated relatively well using corticosteroids. For example, studies have already shown that about 82 percent of all affected individuals respond very well to corticosteroid therapy; however, it is important that affected individuals do not come into contact with the appropriate therapy until after the first year of life. Individuals who are still in the first year of life or who actually do not respond to corticosteroid therapy will receive blood transfusions so that Diamond-Blackfan syndrome can be treated. It is important for the physician to prevent the accumulation of iron in the body; in this case the physician speaks of hemosiderosis, which must be prevented in any case. Another therapeutic option is stem cell transplantation or bone marrow transplantation – BMT. By means of this treatment it is possible to cure Diamond-Blackfan syndrome. Especially people who are dependent on transfusions, because they do not tolerate corticosteroid therapy, are repeatedly treated by means of transplantation, because the frequent transfusions sometimes damage the organs. Currently, bone marrow transplantation is the only therapy that can actually cure Diamond-Blackfan syndrome. However, donation from a non-family member is so risky that in individual cases it must be weighed whether or not to take the risk. Bone marrow transplantation represents the only treatment option that may well cure the syndrome. No other treatment options that have a similar effect are currently known.
Outlook and prognosis
Because the cause and pathogenesis of Diamond-Blackfan syndrome are as yet unclear, no causal therapy can be applied to this condition. Therefore, affected individuals must rely on purely symptomatic treatment to alleviate symptoms. If no treatment is given for Diamond-Blackfan syndrome, the patients suffer from a heart defect and malformations of the kidneys.Likewise, mental development may be delayed if the affected person does not receive appropriate support, resulting in retardation. Due to the cleft palate, many patients suffer from discomfort when taking food and liquids. The various deformities can also lead to teasing or bullying in some cases and therefore cause psychological discomfort. The syndrome is usually treated by various surgical interventions and by providing special support to the affected child. This alleviates most of the discomfort, so that the child can develop normally. The malformations of the heart and kidneys are also treated, so that there is no shortened life expectancy. Bone marrow transplantation can also provide a complete cure for Diamond-Blackfan syndrome, so the outlook for this condition is relatively good.
Prevention
Diamond-Blackfan syndrome cannot be prevented or approximately prevented. Mainly because medical experts have not yet found a cause that is considered to be the trigger for Diamond-Blackfan syndrome.
Follow-up
In most cases of Diamond-Blackfan syndrome, the patient has no special measures or options for aftercare. The affected person is thereby primarily dependent on an early detection and subsequent treatment of this disease, so that it does not come to a worsening of the symptoms. The earlier the syndrome itself is detected, the better the further course of this disease usually is. Since the origin of the Diamond-Blackfan syndrome is not yet known, the direct treatment of the disease is relatively difficult. The treatment itself is carried out with the help of medication. Those affected are dependent on taking the medication regularly and on the correct dosage. In case of questions and uncertainties, a doctor should always be consulted first. However, in severe cases, organ transplants are even necessary for the affected person to survive. In general, a healthy lifestyle with a healthy diet and abstinence from tobacco and alcohol also has a positive effect on the course of the disease. In many cases, however, despite treatment, the life expectancy of the affected person is significantly limited by Diamond-Blackfan syndrome.
What you can do yourself
The chronic anemia can be positively supported by the affected person through an adapted diet. There are various foods that have a beneficial effect on the production of red blood cells when consumed regularly. No freedom from symptoms or recovery is achieved, but in addition to the orthodox medical measures, an improvement in health can be achieved. The consumption of legumes, nuts or seeds causes a supply of iron. Since iron is contained in hemoglobin, this ultimately provides the human organs with a stronger vital force. In addition, brain activity is improved. The consumption of egg yolk also causes a supply of iron and, in addition, of vital proteins. These are essential for the formation of hemoglobin. Beet, pomegranates, spices and herbs should also be included in the diet as part of the possible self-help measures for Diamond-Blackfan syndrome. The aforementioned natural products promote blood production, strengthen the body’s defense system and lead to an improvement in well-being. In addition, patients should strengthen their mental power. With the help of relaxation techniques, stressors are reduced and inner stability is promoted. This has a positive influence on the course of the disease and can lead to a reduction in complaints. Sleep hygiene should be optimized so that the body can regenerate sufficiently during rest periods.
