Pediatric Aplastic Anemia

Disease information

Overview
Causes
and Symptoms
Treatment

Overview

Aplastic anemia is a condition where the bone marrow just doesn't make enough new blood cells. This happens because there's a drop in the number of hematopoietic stem cells, which are the cells in the bone marrow that are supposed to turn into red blood cells (erythrocytes), white blood cells (leukocytes), and platelets (thrombocytes). It's believed that this condition is caused by an issue with the patient's immune system, which somehow turns against these stem cells, stopping them from splitting and growing like they should. For reasons we don't quite understand, this problem seems to show up more in East Asia, including Korea. In Korea, for example, about 5.2 kids out of every million are diagnosed with aplastic anemia.

Causes and Symptoms

Aplastic anemia can be present from birth (congenital) or can develop later in life (acquired). Congenital aplastic anemia includes disorders like: Fanconi anemia, where the bone marrow doesn't make enough new blood cells. Dyskeratosis congenita, which often involves issues with skin and nails and a risk of bone marrow failure. Diamond-Blackfan syndrome, where the body doesn't make enough red blood cells. Shwachman-Diamond syndrome, which can affect the bone marrow, pancreas, and skeletal system. Acquired aplastic anemia might happen after a bout of hepatitis, from taking certain medications, or following some viral infections. However, most of the time, we can't pinpoint exactly what triggered it.

The symptoms all come down to not having enough blood cells: From not enough red blood cells, you might feel dizzy, really tired, and weak. Not enough white blood cells can lead to serious infections, fevers, and chills. And too few platelets mean you might bruise easily, get nosebleeds, have bleeding gums, heavier than normal menstrual periods, get tiny red spots under the skin (petechiae), larger patches of discoloration (purpura), or even have bleeding inside the brain.

Treatmnet

The approach to treating aplastic anemia really hinges on how severe the condition is when it's first found. People with milder forms need to be checked regularly so doctors can jump in if the disease gets worse. Unfortunately, it’s pretty uncommon for someone to get better from aplastic anemia on their own, and about 30-60% of the time, a less severe case can turn into a severe one.

Immunosuppressive Therapy

If someone has a less severe version of aplastic anemia but still needs lots of blood transfusions or keeps getting infections, doctors might go with immunosuppressive therapy. The go-to treatment is a one-two punch of antithymocyte globulin (ATG), which is given as an injection, and cyclosporine pills. The team will check how well it's working after about 3 to 6 months, and it’s good news for about two-thirds of patients who tend to respond to this treatment. If the disease comes back, they might try another round of immunosuppression or start thinking about a bone marrow transplant.

Allogeneic Hematopoietic Stem Cell Transplantation

When aplastic anemia is really serious, a bone marrow transplant, or allogeneic hematopoietic stem cell transplantation, is often the best shot at getting better. This involves getting healthy stem cells from a donor—ideally a brother or sister whose cells match perfectly, or if that’s not an option, from another relative or even someone not related who's a close enough match. The sooner this can be done after diagnosis, the better.