Background
Hereditary thrombotic thrombocytopenic purpura, also called Upshaw‐Schulman syndrome (USS), is a rare disease caused by genetic mutations in the ADAMTS13 gene, which severely decrease the activity of ADAMTS13, a metalloprotease that cleaves von Willebrand factor multimers (VWF). Genotypically identical patients can show great phenotypic diversity.
Objectives
Comparison of selected laboratory parameters and ADAMTS13 pharmacokinetics among patients with USS was performed.
Patients/methods
Six patients with USS on prophylactic plasma therapy have been reviewed, retrospectively. Blood counts, lactate dehydrogenase (LDH), and ADAMTS13 activity at various time‐points before and after different treatment cycles were evaluated.
Results
ADAMTS13 recovery and pharmacokinetics were affected by treatment modality, and also reflected the patients' comorbidities and their current physiological and clinical condition.
Conclusions
Our present findings support a multifactorial contribution to treatment efficacy, and confirm the importance of adaptability and individualization of USS therapy. Therapeutic plasma exchange even in hereditary TTP is an option that can in some patients prolong intervals between plasma administration.
Key words: Transfusion-related acute lung injury -Granulocyte antibodiesBlood products Abstract: Transfusion-related acute lung injury (TRALI) is a severe life-threatening complication of blood transfusion, characterized by acute lung injury developing within 2-6 h of transfusion. However, TRALI is difficult to diagnose, and the initial report or suspicion of TRALI depends on close collaboration between clinical departments and transfusion centres. A total of 17 adverse post-transfusion reactions were reported to the Blood Centre of the University Hospital Ostrava as suspected TRALI between 2005 and 2010. We report two cases of serious TRALI with different pathogenetic mechanisms.
Oddělení klinické hematologie FN Brno, pracoviště Bohunice 2 Katedra laboratorních metod LF MU Brno 3 Krevní centrum FN Ostrava 4 Interní gastroenterologická klinika LF MU a FN Brno, pracoviště Bohunice 5 Centrum kardiovaskulární a transplantační chirurgie Brno 6 Oddělení klinické hematologie FN u sv. Anny Brno Autoři popisují případ ortotopické transplantace jater pro cirhózu v důsledku chronické virové hepatitidy C u pacienta s těžkou hemofilií A. Předoperační farmakokinetická studie s rekombinantním faktorem VIII (F VIII) potvrdila uspokojivé in vivo recovery 2,1 %. Perioperačně byl podán bolus F VIII v dávce 52 j/kg hmotnosti s dosažením požadované aktivity F VIII nad 100,0 %. Celkem bylo perioperačně podáno 30 000 j rekombinantního F VIII, 3 trombocytární koncentráty, 2 erytrocytární koncentráty, 5 transfuzních jednotek (TU) protivirově ošetřené plazmy, jedna TU čerstvě zmražené plazmy a 3 500 j antitrombinu. Perioperačně ani pooperačně nebyly zaznamenány krvácivé komplikace, substituce F VIII byla ukončena 3. pooperační den. Pacient byl propuštěn do domácího ošetřování 20. den po transplantaci.Klíčová slova: hemofilie A, chronická virová hepatitida C, transplantace jater.Liver transplantation as potential curative method in severe hemophilia A: case report and literature reviewThe authors present clinical case of orthotopic liver transplantation for cirhosis due to chronic viral hepatitis C in a subject with severe hemophilia A. Preoperatively performed pharmacokinetic study with recombinant F VIII confirmed satisfactory in vivo recovery of 2.1 %. A bolus application of 52 units F VIII/kg body weight with target F VIII activity over 100.0 % was administred shortly before the transplantation started. Totally, 30 000 units of recombinant F VIII, 3 thrombocyte concentrates, 2 erythrocyte concentrates, 5 units of virally inactivated plasma, 1 unit of fresh frozen plasma and 3 500 antithrombin units were used. There were no perioperative or postoperative bleeding complications, F VIII substitution was stopped on postoperative day 3. The patient was discharged on twentieth postoperative day.
We prepared and followed the perioperative courses of eleven patients who underwent fourteen surgical procedures between 2008 and 2013. Nine patients were treated with replacement therapy using pdFVII (Factor VII; Baxter Healthcare) (Table 1), and five were treated with rFVIIa (NovoSeven ®) (Table 2). Two of the surgical procedures were performed laparoscopically.
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