title: [Therapy of inherited diseases of platelet function. Interdisciplinary S2K guideline of the Permanent Paediatric Committee of the Society of Thrombosis and Haemostasis Research (GTH e. V.)].
abstract: Inherited disorders of platelet function are a heterogeneous group. For optimal prevention and management of bleeding, classification and diagnosis of the underlying defect are highly recommended. An interdisciplinary guideline for a diagnostic approach has been published (AWMF # 086-003 S2K; Hämostaseologie 2014; 34: 201-212). Underlying platelet disorder, platelet count, age and clinical situation modify treatment. Exclusive transfusion of platelet concentrates may be inappropriate as potentially adverse effects can outweigh its benefit. A stepwise and individually adjusted approach for restitution and maintenance of haemostasis is recommended. Administration of antifibrinolytics is generally endorsed, but is of particular use in Quebec disease. Restricted to older children, desmopressin is favourable in storage pool disease and unclassified platelet disorders. Although licensed only for patients with Glanzmann thrombasthenia and alloantibodies, in clinical practice rFVIIa is widely used in inherited platelet disorders with severe bleeding tendency. This guideline aims at presenting the best available advice for the management of patients with inherited platelet function disorders.
authors.forename: W
authors.initials: W
authors.lastname: Streif
authors.affiliation: Priv.-Doz. Dr. med. Ralf Knöfler, Universitätsklinikum Carl Gustav Carus Dresden Klinik und Poliklinik für Kinder- und Jugendmedizin, Bereich Hämostaseologie, Fetscherstr. 74, 01307 Dresden, Tel. 03 51/458 47 99, Fax 03 51/458 57 88, E-Mail: ralf.knoefler@uniklinikum-dresden.de.
authors.forename: R
authors.initials: R
authors.lastname: Knöfler
authors.forename: W
authors.initials: W
authors.lastname: Eberl
authors.forename: O
authors.initials: O
authors.lastname: Andres
authors.forename: T
authors.initials: T
authors.lastname: Bakchoul
authors.forename: F
authors.initials: F
authors.lastname: Bergmann
authors.forename: K
authors.initials: K
authors.lastname: Beutel
authors.forename: R
authors.initials: R
authors.lastname: Dittmer
authors.forename: S
authors.initials: S
authors.lastname: Gehrisch
authors.forename: S
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authors.lastname: Gottstein
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authors.initials: S
authors.lastname: Halimeh
authors.forename: J
authors.initials: J
authors.lastname: Haselböck
authors.forename: W-A
authors.initials: WA
authors.lastname: Hassenpflug
authors.forename: S
authors.initials: S
authors.lastname: Heine
authors.forename: S
authors.initials: S
authors.lastname: Holzhauer
authors.forename: S
authors.initials: S
authors.lastname: King
authors.forename: C M
authors.initials: CM
authors.lastname: Kirchmaier
authors.forename: M
authors.initials: M
authors.lastname: Krause
authors.forename: W
authors.initials: W
authors.lastname: Kreuz
authors.forename: W
authors.initials: W
authors.lastname: Lösche
authors.forename: R
authors.initials: R
authors.lastname: Mahnel
authors.forename: M
authors.initials: M
authors.lastname: Maurer
authors.forename: A
authors.initials: A
authors.lastname: Nimtz-Talaska
authors.forename: M
authors.initials: M
authors.lastname: Olivieri
authors.forename: H
authors.initials: H
authors.lastname: Rott
authors.forename: Ch M
authors.initials: ChM
authors.lastname: Schambeck
authors.forename: A
authors.initials: A
authors.lastname: Schedel
authors.forename: F H
authors.initials: FH
authors.lastname: Schilling
authors.forename: M
authors.initials: M
authors.lastname: Schmugge
authors.forename: R
authors.initials: R
authors.lastname: Schneppenheim
authors.forename: U
authors.initials: U
authors.lastname: Scholz
authors.forename: T
authors.initials: T
authors.lastname: Scholz
authors.forename: H
authors.initials: H
authors.lastname: Schulze
authors.forename: A
authors.initials: A
authors.lastname: Siegemund
authors.forename: G
authors.initials: G
authors.lastname: Strauß
authors.forename: K-W
authors.initials: KW
authors.lastname: Sykora
authors.forename: C
authors.initials: C
authors.lastname: Wermes
authors.forename: V
authors.initials: V
authors.lastname: Wiegering
authors.forename: I
authors.initials: I
authors.lastname: Wieland
authors.forename: B
authors.initials: B
authors.lastname: Zieger
authors.forename: R B
authors.initials: RB
authors.lastname: Zotz
mesh_terms: D000889:Anti-Arrhythmia Agents / Q000592:standards / Q000627:therapeutic use*; D001791:Blood Platelet Disorders / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy*; D002648:Child; D002675:Child, Preschool; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use*; D015942:Factor VIIa / Q000627:therapeutic use*; D005260:Female; D005858:Germany; D006405:Hematology / Q000592:standards; D006470:Hemorrhage / Q000151:congenital / Q000175:diagnosis / Q000628:therapy*; D006490:Hemostatics / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010372:Pediatrics / Q000592:standards; D017713:Platelet Transfusion / Q000592:standards*
chemical_list: D000889:Anti-Arrhythmia Agents; D006490:Hemostatics; D015942:Factor VIIa; D003894:Deamino Arginine Vasopressin
keywords: Angeborene Thrombozytopathien; Leitlinie; Therapie Angeborene Thrombozytopathien sind komplexe Erkrankungen. Zur optimalen Blutungsprophylaxe und -behandlung empfehlen wir eine Abklärung und Diagnose der zugrunde liegenden Funktionsstörung. Dazu steht eine interdisziplinäre Leitlinie zur Verf; besonders bei der Quebec-Erkrankung. Desmopressin ist älteren Kindern vorbehalten und vor allem zur Behandlung der Storage-Pool-Erkrankungen und nicht klassifizierter Defekte geeignet. Rekombinanter FVIIa ist zwar nur für die Behandlung der Thrombasthen; das Lebensalter und die klinischen Umstände abzustimmen. Die Transfusion von Thrombozyten allein kann wegen der damit verbundenen Risiken unangemessen sein. Empfohlen wird ein stufenweiser und individualisierter Behandlungsplan. Antifibrinolytika sind ge; die Thrombozytenzahl; guideline; therapy; wird jedoch in der klinischen Praxis auch bei Thrombozytendefekten mit schwerer Blutungsneigung eingesetzt. Das Ziel dieser Leitlinie ist die Behandlung von Patienten mit angeborenen Thrombozytenfunktionsstörungen bestmöglich zu unterstützen. Inherited