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This rare blood disorder is characterized by severe chronic neutropenia. Symptoms associated with severe chronic neutropenia include recurring fevers, mouth ulcers, and periodontitis. Life-threatening recurrent infections are common complications that may last for months or years and can affect both children and adults.

Kostmann Disease; Severe Neutropenia Syndrome; Infantile Agranulocytosis; Congenital autosomal dominant (or sporadic) neutropenia.

It is estimated to affect approximately 2000 to 5000 individuals in the United States. Severe chronic neutropenia may be inherited as an autosomal dominant or an autosomal recessive genetic trait. It can be acquired or may be idiopathic for unknown reasons. It affects males and females equally. Both children and adults can be affected.

The three main forms are congenital, idiopathic, and cyclic neutropenia. Congenital forms are typically apparent at birth or during early childhood and are considered the most severe form. Chronic idiopathic neutropenia usually affects adults. However, in some cases, the disorder has been demonstrated during childhood, but remains clinically undetected until adulthood. Cyclic neutropenia in most cases is thought to be present at birth. However, in some cases, symptoms may not become apparent until childhood, adolescence, or even early adulthood. The disorder may also be acquired.

Congenital forms of severe chronic neutropenia: Characterized by fevers, recurrent pneumonia, ear infections, gingivitis, and stomatitis. Periodontitis is often present. Recurrent oral ulcerations are common. Bacterial infections often affect the skin, gastrointestinal tract, and respiratory system and can be life-threatening. The most severe form of congenital neutropenia is known as Kostmann Syndrome. Treatment of Kostmann Syndrome consists of G-CSF for life. Some patients unfortunately may progress to myclodysplastic syndrome or acute myelogenous leukemia under this G-CSF therapy.

Chronic idiopathic neutropenia: Symptoms are less severe than those observed with congenital neutropenia; however, infections may also be life-threatening.

Cyclic neutropenia: Severe chronic decrease of neutrophils, presenting as episodes recurring on an average every 21 days and lasting for approximately 3 to 6 days. The cycling period usually remains constant and is consistent among affected individuals.

A complete blood count should be obtained for all these patients prior to anesthesia. Meticulous attention to sterility and asepsis is mandatory. Appropriate antibiotics must be used for all surgical procedures, including laryngoscopy and tracheal intubation.

Several drugs (and other chemicals) may induce neutropenia/agranulocytosis in even healthy people. It seems therefore reasonable, to avoid these drugs in these patients. Some of these drugs include chemotherapeutics, antimicrobials (macrolides), non-steroidal anti-inflammatory drugs, antipsychotics, antithyroid drugs, anticonvulsants, antihistamines and many more.

Fujiu T, Maruyama K, Koizumi TL Early-onset group B streptococcal sepsis in a preterm infant with Kostmann syndrome. Acta Paediatr 91:1397, 2002.  [PubMed: 12578301]
Zetterstrom R: Kostmann disease-infantile genetic agranulocytosis: Historical views and new aspects. Acta Paediatr 91:1279, 2002.  [PubMed: 12578276]

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