Familial eosinophilia

Familial eosinophilia is a condition that is characterized by the overproduction of eosinophils, a type of white blood cell. This overproduction results in high levels of eosinophils in the blood, a condition known as eosinophilia. Familial eosinophilia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Causes

Familial eosinophilia is caused by mutations in the gene FLG. This gene provides instructions for making a protein called filaggrin. Filaggrin is found in the outermost layer of skin and is important for skin barrier function. Mutations in the FLG gene lead to a reduction in the amount of filaggrin in the skin, which can result in skin conditions such as eczema and ichthyosis vulgaris.

Symptoms

The symptoms of familial eosinophilia can vary widely, but they often include skin rash, asthma, and hay fever. Some people with this condition may also have an enlarged spleen or liver, and some may develop a type of cancer called myeloproliferative disorder.

Diagnosis

Familial eosinophilia is diagnosed based on the presence of high levels of eosinophils in the blood. Genetic testing can also be used to confirm the diagnosis.

Treatment

Treatment for familial eosinophilia is aimed at reducing the symptoms and preventing complications. This may include medications to reduce inflammation and control the immune response, as well as treatments for any associated conditions.

See also

• Eosinophilia
• Eczema
• Ichthyosis vulgaris
• Myeloproliferative disorder

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