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- W2912051384 abstract "Las coagulopatías congénitas se caracterizan por trastornos hemorrágicos que aparecen en la infancia y presentan una historia familiar conocida. Las más frecuentes son la enfermedad de von Willebrand, caracterizada por la aparición de hemorragias cutaneomucosas en sujetos de ambos sexos, y la hemofilia A (déficit de FVIII) que se presenta con hemorragias intraarticulares y musculares en los varones. El diagnóstico se realiza con pruebas funcionales, inmunológicas y tests genéticos. El tratamiento es, generalmente, sustitutivo mediante la infusión del factor deficitario en las formas graves complementado con estrategias de profilaxis primaria. La principal complicación del tratamiento de la hemofilia es el desarrollo de inhibidores. En los casos leves el tratamiento de elección es la desmopresina. En otras coagulopatías congénitas infrecuentes, el tratamiento consiste en la administración de plasma fresco congelado, concentrado de factores del complejo protrombínico o factor VII activado recombinante. Congenital coagulopathies are hemorrhagic diseases which show up during childhood and have a known familiar background. The most frequent ones are von Willenbrand's disease, which presents with mucocutaneous hemorrhages in both sexes and hemophilia A (Factor VIII deficit), which shows up with hemorrhages in joints and muscles of male patients. Diagnosis is made by functional, immunological and genetic testing. Treatment in severe cases is usually substitutive by administration of the lacking factor along with primary prophylaxis strategies. The main complication in the treatment of hemophilia is the development of inhibitors. In mild cases the chosen treatment is desmopressin. As for other less frequent congenital coagulopathies, the treatment is based in administering fresh frozen plasma, prothrombin complex factor concentrate recombinant activated factor VII." @default.
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- W2912051384 date "2012-11-01" @default.
- W2912051384 modified "2023-10-08" @default.
- W2912051384 title "Coagulopatías congénitas" @default.
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- W2912051384 doi "https://doi.org/10.1016/s0304-5412(12)70462-6" @default.
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