Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of neutrophils (a type of white blood cell ) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body . Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms associated with cyclic neutropenia may include fever, a general feeling of ill health (malaise), and/or sores (ulcers) of the mucous membranes of the mouth. In most cases, individuals with low levels of neutrophils (neutropenia) are abnormally susceptible to recurrent infections.
The primary finding associated with cyclic neutropenia is regularly recurring severe decrease in certain white blood cells (neutrophils). In most cases, episodes of neutropenia recur every 21 days (a cyclic phenomenon), and the severe neutropenia may last for three to six days. The cycling period usually remains constant and consistent among affected individuals. In addition, abnormal levels of red blood cells (anemia), changes in levels of the blood particles that assist in clotting (platelets), presence of immature red blood cells (reticulocytes), and cyclic changes in other white blood cells can occur. An almost constant feature is an increase in blood monocytes at the lowest point in the neutrophil cycle.
During episodes of neutropenia, affected individuals may experience fever, a general feeling of ill health (malaise), inflammation and deep ulceration of the mucous membranes of the mouth (aphthae and stomatitis), inflammation of the throat (pharyngitis), inflammation and degeneration of the tissues that surround and support the teeth (periodontal disease), and/or loss of appetite. Periodontal disease may result in the loosening of teeth and early tooth loss in young children and adults.
Individuals with cyclic neutropenia are abnormally susceptible to bacterial infections that often affect the skin, digestive (gastrointestinal) tract, and respiratory system. Such bacterial infections vary in severity and, in some cases, may result in life-threatening complications.
Mutations in this gene cause production of abnormal neutrophil elastase and this is the fundamental cause of cyclic neutropenia. Neutrophils are produced in the cavities in many bones (bone marrow). Neutropenia, fever, and infections occur when the bone marrow fails to produce sufficient numbers of neutrophils.