Anemia with pancytopenia. Aplastic anemia and malignant diseases

In the differential diagnosis of anemia, concomitant leukopenia and thrombocytopenia are important indications for the presence of a bone marrow failure syndrome. This article describes acquired primary hematopoietic diseases with bone marrow failure. The differential diagnosis, diagnostic criteria, therapy and outcome in severe aplastic anemia (SAA) and myelodysplastic syndromes (MDS) in childhood are presented. The pathophysiology of SAA is based on immunological destruction of hematopoietic stem cells. Therapy consists of allogeneic stem cell transplantation (HSCT) or immunosuppressive therapy (IST). Response to IST is delayed and can only be evaluated after 3-6 months and MDS is characterized by ineffective hematopoiesis and dysplasia of the three cell lineages. In childhood, the bone marrow in MDS is often hypocellular. In low-grade MDS an IST can be useful, while in all forms of MDS in childhood it is strongly recommended to perform HSCT early in the clinical course. Careful history taking and physical examination are essential for guiding the diagnosis of pancytopenia. Apart from signs of bleeding, a normal physical examination and the absence of blasts on peripheral blood smears can lead to a suspected diagnosis of SAA or MDS. For definite diagnosis a bone marrow examination with biopsy and cytogenetic analysis are mandatory. With up to date diagnostics and therapy approximately 90 % of patients with SAA or low-grade MDS can achieve long-term survival. At the same time HSCT can cure about half of the children and adolescents with advanced MDS.