1/27. Resistance to activated protein C as an etiology for stroke in a young adult: a case report.Resistance to activated protein C (R-APC) is an inherited, autosomal dominant, coagulation abnormality that is increasingly recognized as an important etiology for thromboembolic disease and stroke in young adults. This report describes the case of a 27-year-old woman taking oral contraceptives who experienced an acute thrombotic right hemispheric stroke. Three days after rehabilitation admission (33 days after stroke) she developed a left femoral deep venous thrombosis (DVT) despite appropriate prophylaxis. Further diagnostic workup for the stroke and DVT identified R-APC, possibly exacerbated by oral contraceptives, as the etiology. hematology consultation recommended lifetime anticoagulation with warfarin. The patient's family history revealed that a 19-year-old cousin had died of a stroke several years earlier. Several months after discharge, an acute DVT occurred in the patient's 28-year-old brother, who tested positive for factor V Leiden, a genetic abnormality closely associated with R-APC. A thrombotic stroke occurred in her grandfather a few months later, but he was not tested. Her father demonstrated a "borderline" positive R-APC test and probably represents the genetic link. Indications for patient and family screening regarding R-APC and other forms of hereditary thrombophilia and implications for rehabilitation medicine physicians are discussed.- - - - - - - - - - ranking = 1keywords = thrombophilia (Clic here for more details about this article) |
2/27. Hematologic effects of thrombophilia.The hematologic effects of thrombophilia are subtle, and when recognized may provide clues for the diagnosis of hypercoagulation in patients. This article identifies aberrant, routine test results associated with the diagnosis of thrombophilia. The future expansion of laboratory testing for thrombophilia detection is presented in summation.- - - - - - - - - - ranking = 7keywords = thrombophilia (Clic here for more details about this article) |
3/27. Recurrent Mondor's disease resolved after exeresis of abdominal lipoma.BACKGROUND: Mondor's disease is a rare disorder characterized by superficial thrombophlebitis, classically of the thoracic-epigastric and/or lateral thoracic veins. The etiopathogenesis of the disease is not entirely clear. OBJECTIVE: We report the case of a patient who presented with recurrent Mondor's disease involving the left abdominal wall along the thoracoepigastric vein as far as the ipsilateral iliac fossa where a lipoma was observed. methods: Surgical removal of the lipoma showed a close anatomical relationship between the affected veins and the neoformation. RESULTS: Follow-up after 1 year did not reveal any signs of relapse of the thrombophlebitis. CONCLUSION: Since primary or secondary factors leading to hypercoagulability states were not detected in our patient, we speculate that the interference of venous flow by the abdominal lipoma was probably implicated in the etiopathogenesis of the disease.- - - - - - - - - - ranking = 1.5083420533205keywords = hypercoagulability (Clic here for more details about this article) |
4/27. Mondor's disease.BACKGROUND: Mondor's disease is a rare entity characterized by thrombophlebitis of the subcutaneous veins of the anterolateral thoraco-abdominal wall. The most common clinical manifestations are a painful subcutaneous cord, sensation of tension, and skin retraction. This condition is usually a benign and self-limited process, although it has been associated with breast cancer. methods: We describe four new cases, two men and two women, and comment on the clinical signs and possible etiopathogenic features. General physical examination, radiologic and ecographic studies, laboratory analysis including tumor markers, and exhaustive coagulation study were carried out on all patients. RESULTS: No cases were associated with malignant disease and/or hypercoagulability stage. With conservative treatment, the evolution proved favorable in all patients. CONCLUSIONS: Mondor's disease is usually a benign and self-limited process, but we recommend laboratory studies and physical examination, including mammography in women, in order to rule out the presence of systemic disorders, especially breast cancer.- - - - - - - - - - ranking = 1.5083420533205keywords = hypercoagulability (Clic here for more details about this article) |
5/27. Abnormal propeptide processing resulting in the presence of two abnormal species of protein C in plasma: characterization of the dysfunctional protein C Padua3 (protein C(R-1L/propeptide)).A heterozygous G-->T transversion at position 1388 of the protein C (PC) gene which predicted the substitution of Arg(-1) to a Leu (PC(R-1L)) was identified in a thrombophilic patient. The PC(R-1L) was purified from the patient's plasma by immunoaffinity chromatography using Ca -independent and Ca -dependent monoclonal antibodies. NH2-terminal sequencing of the light chain of PC(R-1L) revealed two amino acid sequences: one was identical to the complete propeptide sequence of PC, while the other matched the normal PC light chain sequence elongated by one amino acid (leucine at position 1). Activated PC(R-1L/propeptide) exhibited normal amidolytic and impaired anticoagulant activity. Thus, the substitution of a Leu for an Arg at position -1 of PC shifts the propeptidase cleavage site by one amino acid. In addition, in PC(R-1L/propeptide) the propeptide cleavage at Lys(-2) is less efficient since approximately 60% of PC variant molecules present in patient's plasma retained the entire propeptide. Our findings suggest that depending on the specific amino acid substitution at position-1, PC can be secreted in plasma containing the entire propeptide attached to the light chain. Impaired interaction of elongated APC molecules with a membrane-surface and/or factor va which is the physiological substrate for APC, is manifested in vivo by thrombophilia.- - - - - - - - - - ranking = 1keywords = thrombophilia (Clic here for more details about this article) |
6/27. Recurrent thromboembolism in a patient with beta-thalassemia major associated with double heterozygosity for factor V R506Q and prothrombin G20210A mutations.Double heterozygosity for factor V R506Q and prothrombin G20210A mutations was identified in a 24-year-old man with beta-thalassemia major. The patient experienced a first thrombotic event at the age of 19 years and three recurrent thromboses in a short time interval, the third occurring while the patient was receiving long-term anticoagulant treatment. This case suggests that patients with major thalassemia and congenital thrombophilic mutations need intensive and long-lasting anticoagulant treatment. Thus, even if thrombotic events could be explained by a hypercoagulable state observed in patients with major thalassemia, after a first thrombotic event has occurred these patients should be screened for acquired and congenital thrombophilia.- - - - - - - - - - ranking = 1keywords = thrombophilia (Clic here for more details about this article) |
7/27. antithrombin iii deficiency and cerebrovascular accidents in young adults.A young man with antithrombin III (AT-III) deficiency sustained a cerebellar venous infarct and recovered following treatment with AT-III concentrate. A family study showed that other members were affected. AT-III deficiency in this family was found to be due to a new variant AT-III TRURO 1. Young patients with strokes should be screened for thrombophilia.- - - - - - - - - - ranking = 1keywords = thrombophilia (Clic here for more details about this article) |
8/27. An antifibrinolytic effect associated with an anti-factor V antibody in a patient with severe thrombophilia.BACKGROUND AND OBJECTIVES: The case of a patient with thrombotic manifestations and severe activated protein c resistance due to an anti-factor V antibody has recently been described. Since activated protein C (APC) is also profibrinolytic we wanted to determine whether the presence of antibodies interfering with the anticoagulant activity of APC also inhibits its profibrinolytic effect. DESIGN AND methods: plasma clots were formed in the presence of tissue plasminogen activator, thrombin, phospholipids, Ca , and various concentrations of APC, and the rate of lysis was monitored over time by the reduction in turbidity. Generation of endogenous thrombin and activation of thrombin activatable fibrinolysis inhibitor (TAFI) were also determined during fibrinolysis by clotting and spectrophotometric assays, respectively. RESULTS: Addition of APC to the patient's plasma failed to stimulate fibrinolysis even at a concentration 4 times higher than that needed to produce the maximal effect in control plasma. Removal of IgG from the patient's plasma fully restored the fibrinolytic response to APC. Accordingly, addition of the patient's IgG to control plasma caused a concentration-dependent inhibition of APC-dependent fibrinolysis. The patient's IgG did not, however, inhibit the profibrinolytic effect of heparin. Determination of thrombin and activated TAFI generation during clot lysis showed that APC inhibited the generation of these enzymes by less than 20% in plasma supplemented with the patient's IgG as opposed to >80% in a control sample. INTERPRETATION AND CONCLUSIONS: Our data suggest that the anti-factor V antibody inhibits fibrinolysis by antagonizing the anticoagulant effect of APC thereby favoring thrombin generation and TAFI activation. Impaired fibrinolysis may represent an additional mechanism contributing to thrombosis in patients with severe APC resistance phenotype.- - - - - - - - - - ranking = 4keywords = thrombophilia (Clic here for more details about this article) |
9/27. Respiratory failure and hypercoagulability in a toddler with Lemierre's syndrome.A 3.5-year-old healthy boy with 4 days of fever was referred to the emergency department for respiratory distress. The physical examination was remarkable for stupor, tachycardia, tachypnea, and dyspnea. Initial blood tests showed pancytopenia. He rapidly developed torticollis. Computerized tomography of the neck revealed a thrombus in the internal jugular vein. A presumptive diagnosis of Lemierre's syndrome was made and he was started on antibiotics and anticoagulation. He subsequently developed adult respiratory distress syndrome and required high frequency oscillatory ventilation for 9 days. blood cultures were positive for fusobacterium necrophorum. Screening for hypercoagulability revealed 2 known risk factors: a mutation in the prothrombin gene and elevated lipoprotein a.- - - - - - - - - - ranking = 7.5417102666027keywords = hypercoagulability (Clic here for more details about this article) |
10/27. Postpartum ovarian vein thrombosis: an update.Ovarian vein thrombosis (OVT) is a rare complication of pregnancy. However, recognition and treatment is critical because a delay in diagnosis could lead to significant maternal morbidity. The diagnosis of OVT remains a challenge because there is no known profile of risk factors. Current controversies concern radiologic diagnosis, appropriate treatment strategies including antibiotics and anticoagulation, treatment duration, and testing for thrombophilias. TARGET AUDIENCE: Obstetricians & Gynecologists, family physicians. learning OBJECTIVES: After completion of this article, the reader should be able to explain that even though the occurrence of postpartum ovarian vein thrombosis (OVT) is rare the physician must consider it in a differential diagnosis in a patient with postdelivery fever unresponsive to antibiotics, state that missing the diagnosis can have devastating consequences, and recall that at times it is difficult to differentiate from septic thrombophlebitis.- - - - - - - - - - ranking = 1keywords = thrombophilia (Clic here for more details about this article) |
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