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Don’t fight Cyclic neutropenia alone.
Find your community on the free RareGuru App.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. Symptoms of cyclic neutropenia may include fever, a general feeling of ill health, and/or sores (ulcers) of the mucous membranes of the mouth. Individuals with low levels of neutrophils (neutropenia) are highly susceptible to recurrent infections. Cyclic neutropenia may be inherited or acquired. Some cases are present at birth and appear to occur randomly for no apparent reason (sporadic). Inherited cases appear to be transmitted in an autosomal dominant fashion and are caused by mutations in the ELANE gene. Treatment includes prompt treatment of associated infections and and therapies aimed at stimulating the production of neutrophils, such as recombinant human granulocyte-colony stimulating factor (rhG-CSF).
Source: GARD Last updated on 05-01-20
The signs and symptoms of cyclic neutropenia usually appear at birth or shortly after. This condition is characterized by recurrent episodes of neutropenia that recur every 14-35 days (most commonly around 21 days) and last between 3 and 5 days. During times of neutropenia, it may be more difficult for the body to fight bacteria, viruses, and infections. The severity of the resulting infections can vary and are often similar to the severity of the neutropenia itself. Resulting symptoms during periods of neutropenia may include:
Additionally, individuals with this condition are at greater risk to develop chronic mouth ulcers. The cycling seems to decrease with age and may disappear by age 30 in some patients. Individuals with cyclic neutropenia only have symptoms during times of neutropenia. At other times when their neutrophil levels are normal, they are not at an increased risk for infection and inflammation.
Last updated on 05-01-20
The diagnosis of cyclic neutropenia may be suspected based on signs and symptoms including regular, cyclic fluctuations in the level of neutrophils in the blood. The diagnosis of cyclic neutropenia is often confirmed by blood work including measurement of an absolute neutrophil count that is less than 200/microL during periods of neutropenia on multiple days within at least 3 regularly spaced cycles. Genetic testing can additionally be helpful to confirm the diagnosis.
Last updated on 05-01-20
Cyclic neutropenia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Last updated on 05-01-20
Treatment for cyclic neutropenia includes taking antibiotic medicines for fevers and infections. People with abdominal pain need to be carefully evaluated for the potentially serious complications of peritonitis and bacteremia.
Treatment with granulocyte colony-stimulating factor (G-CSF), also called Neupogen, is effective in raising blood neutrophil counts in cyclic neutropenia. G-CSF treatment reduces the symptoms and problems of infections in almost all people. Treatment is may be started as early as age six months to one year. Studies indicate that treatment is effective with no adverse effects on growth, development, or pregnancy outcome with follow-up to age 18 years.
Common side effects of G-CSF include bone pain and headache, enlarged spleen, and osteoporosis. Less common side effects include vasculitis, rashes, joint pain, and kidney disease (glomerulonephritis).
For people with a well-matched donor, a bone marrow transplant may be the preferred treatment option. HSCT is the only alternative therapy for individuals with congenital neutropenia who do not respond to G-CSF or who undergo malignant transformation to cancer.
Last updated on 05-01-20
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