Therapie hereditärer Thrombozytopathien

Zusammenfassung

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 Verfügung (AWMF # 86–003 S2K; Hämostaseologie 2014; 34: 201–212).

Die Behandlung ist auf den Defekt, die Thrombozytenzahl, 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 generell anwendbar, besonders bei der Quebec-Erkrankung. Desmopressin ist älteren Kindern vor behalten und vor allem zur Behandlung der Storage- Pool-Erkrankungen und nicht klassifizierter Defekte geeignet. Rekombinanter FVIIa ist zwar nur für die Behandlung der Thrombasthenie Glanzmann mit Alloantikörpern zugelassen, 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.

Summary

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; Hämo - staseologie 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 allo - antibodies, 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.

Schlüsselwörter

Angeborene Thrombozytopathien - Leitlinie - Therapie

Keywords

Inherited thrombocytopathies - guideline - therapy

• Literatur

• 1 Cox K, Price V, Kahr WH. Inherited platelet disorders: a clinical approach to diagnosis and management. Expert Rev Hematol 2011; 04: 455-472.
• 2 Streif W, Olivieri M, Weickardt S. et al. Testing for inherited platelet defects in clinical laboratories in Germany, Austria and Switzerland. Results of a survey carried out by the Permanent Paediatric Group of the German Thrombosis and Haemostasis Research Society (GTH). Platelets 2010; 21: 470-478.
• 3 James AH, Kouides PA, Abdul-Kadir R. et al. Evaluation and management of acute menorrhagia in women with and without underlying bleeding disorders: consensus from an international expert panel. Eur J Obstet Gynecol Reprod Biol 2011; 158: 124-134.
• 4 Halimeh S. Menorrhagia and bleeding disorders in adolescent females. Hamostaseologie 2012; 32: 45-50.
• 5 Bolton-Maggs PH, Chalmers EA, Collins PW. et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006; 135: 603-633.
• 6 Tosetto A, Balduini CL, Cattaneo M. et al. Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET). Thromb Res 2009; 124: e13-e18.
• 7 Seyednejad H, Imani M, Jamieson T, Seifalian AM. Topical haemostatic agents. Br J Surg 2008; 95: 1197-1225.
• 8 Dunn CJ, Goa KL. Tranexamic acid: a review of its use in surgery and other indications. Drugs 1999; 57: 1005-1032.
• 9 Kahr WH, Zheng S, Sheth PM. et al. Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. Blood 2001; 98: 257-265.
• 10 Grassin-Delyle S, Couturier R, Abe E. et al. A practical tranexamic acid dosing scheme based on population pharmacokinetics in children undergoing cardiac surgery. Anesthesiology 2013; 118: 853-862.
• 11 McCormack PL. Tranexamic acid: a review of its use in the treatment of hyperfibrinolysis. Drugs 2012; 72: 585-617.
• 12 Coppola A, Di Minno G. Desmopressin in inherited disorders of platelet function. Haemophilia 2008; 14 (Suppl. 01) 31-39.
• 13 Tauer JT, Gneuss A, Lohse JE. et al. Evaluation of desmopressin effect on primary haemostasis in pediatric patients with aspirin-like defect as hereditary thrombocytopathy. Klin Padiatr 2011; 223: 169-172.
• 14 Higham JM, O’Brien PM, Shaw RW. Assessment of menstrual blood loss using a pictorial chart. Br J Obstet Gynaecol 1990; 97: 734-739.
• 15 Ochs HD, Filipovich AH, Veys P. et al. Wiskott- Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant 2009; 15 (1 Suppl): 84-90.
• 16 Wiegering V, Sauer K, Winkler B. et al. Indication for allogeneic stem cell transplantation in Glanzmann’s thrombasthenia. Hamostaseologie 2013; 33: 305-312.
• 17 Almeida AM, Khair K, Hann I, Liesner R. The use of recombinant factor VIIa in children with inherited platelet function disorders. Br J Haematol 2003; 121: 477-481.
• 18 Mathew P, Young G. Recombinant factor VIIa in paediatric bleeding disorders--a 2006 review. Haemophilia 2006; 12: 457-472.
• 19 Franchini M. The use of recombinant activated factor VII in platelet disorders: a critical review of the literature. Blood Transfus 2009; 07: 24-28.
• 20 Poon MC. The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders. Transfus Med Rev 2007; 21: 223-236.