RESUMEN
Inherited thrombocytopathies are much less frequent in comparison to acquired platelet function disorders. However, congenital disorders can lead to severe bleeding tendency and are often not diagnosed. They are induced by different platelet defects based on disorders of platelet adhesion, receptors, secretion and signal transduction. In some cases they are associated with thrombocytopenia, giant platelets and various comorbidities. This article gives an overview regarding diverse defects, their diagnosis and treatment options.
Asunto(s)
Trastornos de las Plaquetas Sanguíneas/genética , Plaquetas/fisiología , Genotipo , Trastornos Hemorrágicos/genética , Síndrome de Bernard-Soulier/sangre , Síndrome de Bernard-Soulier/diagnóstico , Síndrome de Bernard-Soulier/genética , Síndrome de Bernard-Soulier/terapia , Trastornos de las Plaquetas Sanguíneas/sangre , Trastornos de las Plaquetas Sanguíneas/diagnóstico , Trastornos de las Plaquetas Sanguíneas/terapia , Plaquetas/patología , Diagnóstico Diferencial , Trastornos Hemorrágicos/sangre , Trastornos Hemorrágicos/diagnóstico , Trastornos Hemorrágicos/terapia , Humanos , Tamizaje Masivo , Agregación Plaquetaria/genética , Agregación Plaquetaria/fisiología , Pruebas de Función Plaquetaria , Deficiencia de Almacenamiento del Pool Plaquetario/sangre , Deficiencia de Almacenamiento del Pool Plaquetario/diagnóstico , Deficiencia de Almacenamiento del Pool Plaquetario/genética , Deficiencia de Almacenamiento del Pool Plaquetario/terapia , Prostaglandina-Endoperóxido Sintasas/genética , Receptores de Colágeno/genética , Receptores de Colágeno/fisiología , Trombastenia/sangre , Trombastenia/diagnóstico , Trombastenia/genética , Trombastenia/terapia , Tromboxano-A Sintasa/genéticaRESUMEN
Congenital disorders of platelet function are a heterogeneous group of disorders that are often not detected until bleeding occurs. In clinical settings only a few methods have proven to be useful for identification and classification of inherited platelet disorders. For a rational diagnostic approach, a stepwise algorithm is recommended. Patient history and clinical investigation are mandatory. Von Willebrand disease and other coagulation disorders should always be ruled out prior to specific platelet testing. Platelet count, size, volume (MPV) and morphology may guide further investigations. The PFA-100® CT is suited for screening for severe platelet defects. Platelet aggregometry allows assessment of multiple aspects of platelet function. Flow cytometry enables diagnosis of thrombasthenia Glanzmann, Bernard-Soulier syndrome and storage pool defects. Molecular genetics may confirm a putative diagnosis or pave the way for identifying new defects. We present an unabridged version of the interdisciplinary guideline.