Diagnosis of neutropenia is often difficult. Since it’s a very rare condition, symptoms are frequently assumed and confused with other conditions or diseases. Chemotherapy for Leukemia or other cancers can cause patients, especially children, to become neutropenic. However, with the successful completion of chemotherapy, the patient’s immune system can return to normal functioning. On the other hand, patients who are diagnosed with congenital, idiopathic, cyclic, or autoimmune neutropenia have symptoms that are independent from medication or other treatment causes.
Early misdiagnosis is a common issue for patients and families with neutropenia. In order to officially make a diagnosis, a physician will need to run a Complete Blood Count (CBC), which is also known as a Full Blood Count (FBC). These procedures directly measure the neutrophil count.
Patients with Severe Chronic Neutropenia (SCN) may have a neutrophil count which varies slightly.
Though, in contrast to cyclic neutropenia it always remains at a very low level. With cyclic neutropenia counts can test normal due to a cyclical change, but may test very low at other times. Testing for cyclic usually involves CBCs taken three times per week for at least six weeks to see if a regular cyclical pattern of neutrophil counts.
Physicians should also do a blood test to exclude autoimmune neutropenia by testing for neutrophil antibodies.
BONE MARROW TESTING
If initial blood tests indicate neutropenia, then the next step in diagnosis is a bone marrow examination. Neutropenia can be determined by viewing a sample of marrow under a microscope.
Bone marrow cells are usually taken from the large pelvic bone, the ilium, or the sternum. The patient is usually asleep under general anesthetic or under local anesthetic with sedation.
There are two different methods of examining bone marrow. First, marrow cells can be taken out like taking a blood sample from a vein (bone marrow aspirate) from the middle of the bone. Secondly, a small piece of the solid, bonier part of bone marrow is taken (bone marrow biopsy) and processed to look at the architecture of the marrow structure.
CYTOGENETIC AND MOLECULAR TESTING
Cytogenetics is a subset of Cytology (the study of cells and their structures) and involves the study of the hereditary properties of cells and chromosomes.
Any morphological or structural abnormality of the marrow cells may be preceded by a change in cytogenetics. There are additional techniques by which some cytogenetic changes can be monitored depending on the physician testing.
Thanks to the SCNIR for the medical information referenced here. Visit SCNIR website.