ANGIOEDEMA HEREDITARIO PDF

A number sign (#) is used with this entry because hereditary angioedema types I and II are caused by heterozygous mutation in the C1 inhibitor gene (C1NH. Download Citation on ResearchGate | Angioedema hereditario | Hereditary angioedema is a rare disease of genetic origin that is characterized by recurrent . Request PDF on ResearchGate | On Feb 26, , Teresa Caballero Molina and others published Angioedema hereditario.

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Only comments written in English can be processed. Prevalence is unknown as there have been very few reported cases occurring mostly in individuals of French, German and British descent.

Contrary to HAE types 1 and 2, HAE type 3 occurs mainly in women and attacks are often associated with increased estrogen levels pregnancy, oral contraception, hormonal replacement therapy.

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It may be caused by a gain of function mutation in the F12 gene, encoding the coagulation factor 12 Hageman factor. These mutations cause an increase in factor 12 activity while C1 inhibitor serum levels and C1 activity remain normal leading to an increase in bradykinin formation.

There is no licensed treatment for HAE 3 but bradykinin receptor antagonists and C1-INH concentrate have been successful in several cases. Prophylaxis with tranexamic acid is more likely to prove effective than danazol.

Orphanet: Angioedema hereditario inducido por bradiquinina

Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Summary Epidemiology Prevalence is unknown as there have been very few reported cases occurring mostly in individuals of French, German and British descent.

Clinical description Contrary to HAE types 1 and 2, HAE type 3 occurs mainly in women and attacks are often associated with increased estrogen levels pregnancy, oral contraception, hormonal replacement therapy.

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Etiology It may be caused angioedemaa a gain of function mutation in the F12 gene, encoding the coagulation factor 12 Hageman factor.

Management and treatment There is no licensed treatment for HAE 3 but bradykinin receptor antagonists and C1-INH concentrate have been successful in several cases.

Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 3 Gene s 1 Other website s 0.

Health care resources for this disease Expert centres 92 Diagnostic tests 26 Patient organisations 32 Orphan drug s Specialised Social Services Eurordis directory.

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis heredktario treatment.