Some older patients are able to discontinue enzyme replacement with no clinical consequences. As a result of dysfunction of the bone marrow, patients may have a decrease in any or all types of blood cells. Blood cell counts should be monitored regularly. Shwachman-Diamond Syndrome patients have apropensity to myelodysplasia or leukemic transformation, for this reason bone marrow aspirates and biopsies are recommended. Neutropenia Neutropenia is present when the counts are lower than 1500 per microliter.
Neutrophils are a type of white blood cell important in fighting bacteria infections.
Neutropenia is seen, at sometime during the course of the disease, in virtually all patients. Many patients are prone to repeated bacterial infection. Some of these infections may be life threatening. Close attention should be paid to infection, with appropriate treatment instituted as quickly as possible. The blood also contains cells called platelets.