Hereditary and acquired thrombophilia increase the risk of first-time and recurrent venous thromboembolism (VTE). In unselected VTE cohorts, thrombophilic disorders are detected in approximately 40-50% of cases. The probability of a positive test result is higher in patients with a positive family history and VTE manifestation at a young age. The diagnosis of thrombophilia does not necessarily have consequences for further treatment. On the other hand, there are several aspects specific to women where knowledge of thrombophilia influences treatment decisions. The aim of this paper is to describe the various situations specific to women, to present current evidence, and to make recommendations regarding the usefulness and scope of thrombophilia screening. To this end, a panel of 18 experts was assembled within the Standing Committee on Women's Health Issues of the Society for Thrombosis and Haemostasis Research (GTH), which developed recommendations as part of a Delphi process.

Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities in platelet count and function. However, damaging variants closely located to the C-terminal zinc finger domain of GATA1 are nearly unknown. In this study, a 36-year-old male index patient and his 4-year-old daughter suffered from moderate mucocutaneous bleeding diathesis since birth. Whole exome sequencing detected a novel hemizygous GATA1 missense variant, c.886A>C p.T296P, located between the C-terminal zinc finger and the nuclear localization sequence with non-random X-chromosome inactivation in the heterozygous daughter. Blood smears from both patients demonstrated large platelet fractions and moderate thrombocytopenia in the index. Flow cytometry and electron microscopy analysis supported a combined α-/δ (AN-subtype)-storage pool deficiency as cause for impaired agonist-induced platelet aggregation (light transmission aggregometry) and granule exocytosis (flow cytometry). The absence of BCAM in the index (Lu(a-b-)) and its low expression in the daughter (Lu(a-b+)) confirmed a less obvious effect of defective GATA1 also on erythrocytes. Borderline anemia, elevated HbF levels, and differential transcription of GATA1-regulated genes indicated mild dyserythropoiesis in both patients. Furthermore, a mild SLC4A1 defect associated with a heterozygous SLC4A1 c.2210C>T p.A737V variant maternally transmitted in the daughter may modify the disease to mild spherocytosis and hemolysis.

Hierbei handelt es sich um angeborene oder erworbene Störungen der Blutstillung im Sinne einer verstärkten Blutungsneigung (hämorrhagische Diathese), bedingt durch Defekte und Veränderungen der Gefäßwand (Vasopathie), Verminderung (Thrombozytopenie) oder Dysfunktion (Thrombozytopathie) der Thrombozyten sowie durch Defekte und Verminderung bzw. Fehlen der Gerinnungsfaktoren (Koagulopathie).

An den Aufgaben der Hämostase, die Fließfähigkeit des Bluts optimal zu erhalten und gleichzeitig Blutverluste nach Verletzungen zu verhindern, sind im Wesentlichen 3 Systeme beteiligt: das Gefäßsystem selbst, die Blutplättchen und die plasmatische Gerinnung.

Die Thrombophilie ist definiert als Neigung zu Gefäßverschlüssen auf der Grundlage angeborener oder erworbener Defekte der Inhibitoren der Gerinnung, einzelner Gerinnungsfaktoren, der Fibrinolyse sowie von Funktion und Integrität des Endothels beeinflussender Faktoren (z. B. Verletzung). Auch über die Norm erhöhte prokoagulatorische Einzelfaktoren gehen mit einem erhöhten Thromboserisiko einher. Als dritter Aspekt ist die Stase, der verlangsamte Blutfluss, bei der Thrombusentstehung zu berücksichtigen – wie es bereits 1856 von R. Virchow beschrieben wurde.

Die Thrombophilie ist definiert als Neigung zu Gefäßverschlüssen auf der Grundlage angeborener oder erworbener Defekte der Inhibitoren der Gerinnung, einzelner Gerinnungsfaktoren, der Fibrinolyse sowie von Funktion und Integrität des Endothels beeinflussender Faktoren (z. B. Verletzung). Auch über die Norm erhöhte prokoagulatorische Einzelfaktoren gehen mit einem erhöhten Thromboserisiko einher. Als dritter Aspekt ist die Stase, der verlangsamte Blutfluss, bei der Thrombusentstehung zu berücksichtigen – wie es bereits 1856 von R. Virchow beschrieben wurde.

Venous thromboembolism (VTE) is a major cause of maternal morbidity during pregnancy and the postpartum period. Because there is a lack of adequate study data, management strategies for the prevention of VTE during pregnancy have mainly been deduced from case-control and observational studies and extrapolated from recommendations for non-pregnant patients. The decision for or against pharmacologic thromboprophylaxis must be made on an individual basis weighing the risk of VTE against the risk of adverse side effects such as severe bleeding complications. A comprehensive, multidisciplinary approach is often essential as the clinical scenario is made more complex by the specific obstetric context, especially in the peripartum period. As members of the Working Group in Women's Health of the Society of Thrombosis and Haemostasis (GTH), we summarize the evidence from the available literature and aim to establish a more uniform strategy for VTE risk assessment and thromboprophylaxis in pregnancy and the puerperium. In this document, we focus on women with hereditary thrombophilia, prior VTE and the use of anticoagulants that can safely be applied during pregnancy and the lactation period.

Hierbei handelt es sich um angeborene oder erworbene Störungen der Blutstillung im Sinne einer verstärkten Blutungsneigung (hämorrhagische Diathese), bedingt durch Defekte und Veränderungen der Gefäßwand (Vasopathie), Verminderung (Thrombozytopenie) oder Dysfunktion (Thrombozytopathie) der Thrombozyten sowie durch Defekte und Verminderung bzw. Fehlen der Gerinnungsfaktoren (Koagulopathie).

Despite a lot of research on antiphospholipid antibodies (aPL), standardization of test systems, and better definition of its clinical symptoms, the pathomechanism of this acquired autoimmune disease is not yet fully explained. Progress in treatment increased the live birth rate in 70 to 80% of women suffering from obstetric antiphospholipid syndrome (OAPS). However, still 20 to 30% will develop adverse pregnancy outcome. Lack of awareness of this disorder as the cause for pregnancy complications is very harmful to mothers and to their newborns. Complications can be avoided or minimized by proper treatment. The aim of this article is to increase the awareness of gynecologists and medical personal for OAPS.

Die erworbene Koagulopathie ist eine Störung der sekundären Hämostase durch Synthesedefizite, immunologische oder medikamentöse Faktoren. Seltener sind Störungen der primären Hämostase durch erworbene Veränderungen des Von-Willebrand-Faktors oder durch Thrombozytopathie bzw. -penie bedingt.

Beate Luxembourg1,2; Daniel Delev3; Christof Geisen2; Michael Spannagl4; Manuela Krause5; Wolfgang Miesbach6; Christine Heller7; Frauke Bergmann8; Ursula Schmeink9; Ralf Grossmann10; Edelgard Lindhoff-Last2; Erhard Seifried1; Johannes Oldenburg11; Anna Pavlova11 1Institute of Transfusion Medicine and Immunohaematology, DRK Blood Donor Service Baden-Württemberg-Hessen, Frankfurt, Germany; 2Department of Internal Medicine, Division of Vascular Medicine and Haemostaseology, University Hospital Frankfurt, Germany; 3Clinic and Policlinic for Neurosurgery, University Clinic Bonn, Bonn, Germany; 4Department of Transfusion Medicine and Haemostaseology, Ludwig Maximilians University, Munich, Germany; 5Division of Haemostaseology and Angiology, DKD, Wiesbaden, Germany; 6Haemophilia Centre, University Hospital Frankfurt, Germany; 7Department of Paediatric Medicine, University Hospital Germany; 8MVZ Wagnerstibbe, Hannover, Germany; 9Praxis für Gefäßchirurgie und Phlebologie, Aachen, Germany; 10Gemeinschaftspraxis Laborärzte Schweinfurt, Schweinfurt, Germany; 11Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany

Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPN) comprise a heterogeneous group of chronic hematologic malignancies. The quality of life, morbidity, and mortality of patients with MPN are primarily affected by disease-related symptoms, thromboembolic and hemorrhagic complications, and progression to myelofibrosis and acute leukemia. Major bleeding represents a common and important complication in MPN, and the incidence of such bleeding events will become even more relevant in the future due to the increasing disease prevalence and survival of MPN patients. This review discusses the causes, differential diagnoses, prevention, and management of bleeding episodes in patients with MPN, aiming at defining updated standards of care in these often challenging situations.

Blood count and plasmatic coagulation laboratory results: The table shows the results for each patient, listed to patient ID according to Table 1, with unit and normal measurement range. Bold red values show deviation from the normal range. Stroked out values are not available in the specific laboratory of examination. (DOCX 74 kb)

Background The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and eventually worsen emergency situations. Results 22 vascular type EDS patients were studied for hemoglobin, platelet volume and count, Quick and activated partial thromboplastin time, fibrinogen, factor XIII, von Willebrand disease, vitamin D and platelet aggregation by modern standard laboratory methods. Results show a high prevalence of over 50 % for platelet aggregation disorders in vascular type EDS patients, especially for collagen and epinephrine induced tests, whereas the plasmatic cascade did not show any alterations. Additionally, more than half of the tested subjects showed low vitamin D serum levels, which might additionally affect vascular wall integrity. Conclusion The presented data underline the importance of detailed laboratory screening methods in vascular type EDS patients in order to allow for targeted application of platelet-interacting substances that might be of decisive benefit in the emergency setting.

Aims:We report about a 35 year old male patient with severe and frequent epistaxis and hematoma since infancy. He presented with mild thrombocytopenia and increased mean platelet volume. Von Willebrand's disease and subhemophilia had been excluded. Previously, he was diagnosed with immune thrombocytopenic purpura. He never underwent elective surgery. His parents were asymptomatic. However, his young daughter also suffers from severe bleeding symptoms and was referred to our coagulation outpatient clinic to investigate the bleeding disorder.