What is Diamond-Blackfan Syndrome?
Diamond-Blackfan syndrome usually begins in children under 4 months of age; pay attention to the sharp pallor of the child. Sometimes a random blood test reveals severe anemia. The disease affects equally often children of both sexes.
Symptoms of Diamond – Blackfan Syndrome
As with Fanconi’s anemia, with Diamond-Blackfan syndrome, changes in the thumbs are sometimes observed. In addition, some patients have a short neck, as in Shereshevsky-Turner syndrome. Enlargement of the liver and spleen is uncharacteristic, with the exception of patients who received multiple blood transfusions. In these cases, hepatomegaly and enlarged spleen are associated with organ hemosiderosis. A common symptom is stunted growth.
Diagnosis of Diamond – Blackfan Syndrome
In blood tests – severe anemia, reticulocytopenia, inhibition of the red sprout of the bone marrow with a normal number of neutrophils and platelets.
The content of fetal hemoglobin is increased. Daymond et al. Found that the level of fetal hemoglobin in 9 out of 12 six-month-olds ranges from 5 to 25%, while in children in the control group its content did not exceed 5%.
It is not possible to detect antibodies to the erythroblast antigen in serum in children. On the surface of red blood cells with the help of an aggregate hemagglutination test, antibodies are detected, most often the IgA class, less often IgG.
PACA in adults should be thought of when reticulocytes are absent or sharply reduced with severe anemia, and the platelet and neutrophil counts are normal or almost normal. In the bone marrow, erythrokaryocytes are often absent or almost absent with a normal number of neutrophils and megakaryocytes, there is no increase in the number of blasts. It should be noted that red sprout reduction develops not only with PACA. A fairly frequent phenomenon is its development in the usual form of autoimmune hemolytic anemia with incomplete thermal agglutinins during a period of severe exacerbation. Since there are a lot of antibodies, they destroy not only the peripheral red blood cells, against the antigen of which they are directed, but also red blood cells, on the surface of which there is also this antigen, but in much smaller quantities. In these forms, unlike PKKA, the temperature is elevated. The study of the specificity of antibodies helps.
After detecting PACA, a thymus tumor should be excluded, for this the anterior mediastinum is thoroughly examined radiologically, and if a thymoma is suspected, a pneumomediastinogram is made.
Children with Diamond-Blackfan syndrome have the same blood changes. Children easily respond to treatment with glucocorticosteroids, therefore diagnostic errors are possible if they first examine the content of reticulocytes and produce sternal puncture after the administration of prednisolone.
In these cases, irritation of the red sprout of the bone marrow is detected, and not its inhibition and an increased content of reticulocytes, but not a reduced one. It is necessary to examine the bone marrow and the content of reticulocytes before the appointment of prednisone or some time after its cancellation.
Treatment of Diamond – Blackfan Syndrome
PACA treatment requires a long time and is not always effective, but provides improvement in more than half of patients. If PACA is a consequence of a thymus tumor, then removal of the thymus gland is necessary, although surgery without additional treatment does not always lead to improvement. Large doses of prednisone are effective in the teenage form of PKA, with Diamond-Blackfan syndrome and rarely improve the condition of adults. More often, prednisone, if effective, is temporary. In adolescents, removal of the spleen gives good results, which in itself can lead to improvement, in adults this is extremely rare. During removal of the spleen, the doctor prescribes prednisone to prevent a decrease in blood corticosteroids, since patients take it for a long time before surgery. As a prophylaxis of thrombosis, heparin is used, introduced into the skin of the abdomen at 5000 units 2-3 times a day. Subsequently, for the same purpose, heparin is replaced by chimes.
In cases where removal of the spleen does not bring results, cytostatics are used. Initially treated with one drug; it is impossible to specify the most effective drug in advance. Desferal is used to prevent hemosiderosis. Repeated plasmapheresis is useful in some cases.
In patients with a thymus tumor, after removal of the tumor, one of the cytostatic drugs is prescribed.