New clotting disorders that cast new light on blood coagulation and may play a role in clinical practice.

Recently several variants of clotting factors have shown a peculiar behavior so that they appear as new defects. The factors involved are FII, FV and FIX. Prothrombin deficiency is usually associated with bleeding. Recently a few prothrombin abnormalities involving Arg396 mutations, have been demonstrated to show antithrombin resistance with the consequent appearance of a thrombophilic state and venous thromboses in young age. The same is true for an abnormal FIX (FIX Padua). The thrombotic manifestations in the latter condition are also venous. The abnormal FIX (FIX Padua) is characterized by a great increase in FIX activity whereas FIX antigen is only slightly increased. The condition is due to an Arg338Lys mutation. The increased intrinsic clotting activity of this abnormal FIX is being investigated as a useful therapeutic approach in homophile B patients. Another new clotting disorder is represented by two abnormal FV (FV East Texas and FV Amsterdam). These are characterized by a deletion of part of the B domain of FV resulting in a "short" FV. The condition is characterized by a mild bleeding tendency due to high levels of Tissue Factor pathway inhibitor. The "short" factor V is in fact resistant to the action of Tissue Factor pathway inhibitor which is sharply increased in these patients. These new clotting entities have again demonstrated that the study of patients who show a tendency to venous thrombosis or a mild bleeding condition that cannot be explained on the basis of our current concepts of blood coagulation, may represent "new" coagulation disorders. All persons interested in thrombotic or hemorrhagic disorders should be informed about these new clinical and laboratory conditions.

Inestabilidad hemodinámica debida a hematoma mamario en mujer anticoagulada / Haemodynamic instability due to breast haematoma in an anticoagulated patient

Introducción. Las urgencias por enfermedad mamaria son procesos infrecuentes, siendo las mastitis y los abscesos los más habituales. Los hematomas mamarios, a pesar de su baja frecuencia, pueden requerir un manejo terapéutico urgente. Caso clínico. Presentamos el caso de una mujer de 74 años, anticoagulada con acenocumarol debido a una fibrilación auricular crónica, que acudió a urgencias por una tumoración de crecimiento progresivo a nivel de la mama derecha tras una extensión del miembro superior derecho. En la exploración física se apreció inestabilidad hemodinámica de la paciente y un gran hematoma en mama derecha que se extendía a la pared torácica lateral. Estabilizada la paciente y corregida la coagulación se intentó la embolización radiológica del vaso sangrante, siendo esta infructuosa, por lo que finalmente se realizó un drenaje quirúrgico drenando un gran hematoma. Conclusión. Los hematomas mamarios grandes que provocan inestabilidad hemodinámica deben ser drenados quirúrgicamente, sin intentar medidas conservadoras previamente (AU)

Background. Emergencies in breast disease are rare, the most common being mastitis and abscesses. Breast haematomas, despite their low frequency, may require urgent therapeutic management. Case report. We present the case of a 74-year-old woman, receiving anticoagulation with acenocumarol due to a chronic atrial fibrillation, who presented to the local emergency department after having a sensation of clicking and pain in the pectoral region following right arm extension, accompanied by progressive growth of the ipsilateral breast. Physical examination revealed haemodynamic instability and a large haematoma in the right breast extending to the lateral chest wall. After stabilizing the patient and correcting the coagulation, an unsuccessful failed attempt was made to embolize the bleeding vessel. Finally, the patient underwent surgical drainage of a large hematoma. Conclusion. Large breast haematomas causing haemodynamic instability should be drained surgically, without prior attempts at conservative measures (AU)

Familial multiple coagulation factor deficiencies - chance associations and distinct clinical disorders.

The familial multiple coagulation factor deficiencies (FMCFDs) are a group of rare haemostatic disorders of genetic origin in which there is reduced plasma activity of more than one coagulation factor. FMCFDs may arise from co-incidental inheritance of separate coagulation factor deficiencies or from a single genetic or cytogenetic defect. All the FMCFDs present significant challenges in diagnosis and management yet there is little systematic evidence with which to guide clinical practice. This review summarizes the historical literature that describes the FMCFDs and introduces a refined classification of these disorders. The clinical and laboratory characteristics of the most common FMCFDs are considered in detail.