Familial eosinophilia: Difference between revisions
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{{Infobox medical condition | |||
| name = Familial eosinophilia | |||
| synonyms = | |||
| field = [[Hematology]] | |||
| symptoms = Elevated [[eosinophil]] count in the blood | |||
| complications = Potential development of [[organ damage]] | |||
| onset = Typically in [[childhood]] or [[adolescence]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Genetic]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Complete blood count]], [[genetic testing]] | |||
| differential = [[Hypereosinophilic syndrome]], [[allergic reactions]], [[parasitic infections]] | |||
| treatment = Usually [[observation]], [[corticosteroids]] if symptomatic | |||
| prognosis = Generally good with monitoring | |||
| frequency = Rare | |||
}} | |||
'''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. | '''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== | ==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]]. | 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== | ==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]]. | 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== | ==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. | 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== | ||
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. | 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== | ==See also== | ||
* [[Eosinophilia]] | * [[Eosinophilia]] | ||
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* [[Ichthyosis vulgaris]] | * [[Ichthyosis vulgaris]] | ||
* [[Myeloproliferative disorder]] | * [[Myeloproliferative disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Skin conditions]] | [[Category:Skin conditions]] | ||
[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
{{stub}} | {{stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 03:00, 4 April 2025
| Familial eosinophilia | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Elevated eosinophil count in the blood |
| Complications | Potential development of organ damage |
| Onset | Typically in childhood or adolescence |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic |
| Risks | Family history of the condition |
| Diagnosis | Complete blood count, genetic testing |
| Differential diagnosis | Hypereosinophilic syndrome, allergic reactions, parasitic infections |
| Prevention | N/A |
| Treatment | Usually observation, corticosteroids if symptomatic |
| Medication | N/A |
| Prognosis | Generally good with monitoring |
| Frequency | Rare |
| Deaths | N/A |
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[edit]
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[edit]
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[edit]
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[edit]
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.
