11/55. Deep vein thrombosis during administration of HMG for ovarian stimulation. We report a case of activated protein C (APC) resistance and deep calf vein thrombosis under controlled ovarian stimulation for in vitro fertilization. The thrombosis occurred before administration of human chorionic gonadotrophin for ovulation induction on the 8th day of hMG (human menopausal gonadotrophin). The patient was stimulated according to the long luteal protocol. Cases of arterial and venous thrombosis as a result of ovarian stimulations are reviewed. ( info) |
12/55. Abdominal nodules as a presentation of obstruction of the inferior vena cava and factor v Leiden mutation. Abdominal nodular lesions are not usually considered a sign of deep venous thrombosis. However, we have seen a patient with abdominal nodular lesions due to venous thrombosis, that led to the diagnosis of factor v Leiden mutation, a recently described cause of hypercoagulability. ( info) |
| Recurrent thrombosis is a common complication of various rheumatic disorders and is part of the definition of antiphospholipid syndrome. We report three cases of recurrent venous thrombosis due not only to antiphospholipid syndrome with a normal activated partial thromboplastin time but also to resistance to activated protein C caused by the factor v Leiden mutation. These three cases confirm that thrombotic disease is frequently multifactorial and suggest that resistance to activated protein C should be looked for routinely in patients with suggestive clinical manifestations, particularly when standard clotting tests are normal. ( info) |
| PURPOSE: To report an association between central retinal artery occlusion and homozygosity for factor v Leiden. METHOD: Case report. RESULTS: A 48-year-old woman with sudden loss of visual acuity in her right eye caused by a central retinal artery occlusion showed abnormal resistance to activated protein C and was homozygous for the factor v Leiden gene. CONCLUSION: activated protein c resistance may be a risk factor for central retinal artery occlusion in young adults. ( info) |
| Behcet's disease (BD) is known for its tendency for thromboembolism, which is thought to be due to vascular injury. The important role of inherited thrombophilias is now becoming increasingly clear. However, conflicting data exist in terms of the contribution of these factors to the thrombotic risk in BD. In this case report, we describe a patient with BD who presented with severe cor pulmonale due to recurrent chronic venous thromboembolism and pulmonary artery thrombosis. The biochemical evaluation revealed that the patient was homozygotic for the factor v Leiden (R506Q) mutation and had increased levels of homocysteine. His condition deteriorated despite adequate anticoagulation treatment, and he died suddenly after 7 months of follow-up. We assume that the presence of thrombophilic risk factors augments and synergizes with the hypercoagulable state already existing in BD, leading to fatal thrombosis in this patient. ( info) |
16/55. Livedoid vasculopathy in a patient with factor v mutation (Leiden). BACKGROUND: Frequently, no underlying disease can be detected in patients with livedoid vasculopathy. For these forms, an unknown vaso-occlusive or thrombogenic process has been accused to play a role. Thus, a patient with livedoid vasculopathy was examined for different parameters which can be involved in coagulopathies. methods: Laboratory studies for different autoantigen reactive immunoglobulins, cryoglobulins, and circulating immune complexes were carried out. Besides dermatopathologic examination, a biopsy specimen was analyzed by direct immunofluorescence for immunoglobulin (Ig) and complement deposits. Furthermore, hemostaseological function tests including activated protein C (APC) resistance were undertaken. RESULTs: Positive only at very low titres were antinuclear antibodies and c-ANCA, all other parameters were within normal ranges or negative. Direct immunofluorescence revealed IgM, C3 and fibrogen deposits. Hemostaseological function tests demonstrated a pathologic activated protein c resistance and PCR analysis a heterozygous defect of the factor v (Leiden). CONCLUSIONS: The diagnosis of livedoid vasculopathy associated with factor v mutation (Leiden) was made. Since the underlying cause for livedoid vasculopathy often remains unknown, we suggest that hemostaseological function tests including APC resistance and factor v gene mutation analysis should be carried out. Further studies have to follow in order to elucidate the role of mutant factor v in livedoid vasculopathy and in cutaneous ulcerations. ( info) |
17/55. Successful anticoagulation with hirudin in a patient with mesenteric venous thrombosis and multiple coagulation abnormalities. A case of multiple thrombotic diatheses discovered in the setting of mesenteric venous infarction is discussed. The patient had deficiencies of protein C, protein s, antithrombin iii; was heterozygous for factor v Leiden; and had polycythemia vera. Adequate anticoagulation could not be established with heparin administration and hirudin was used. The diagnosis of mesenteric venous infarction, thrombotic tendency of multiple coagulation diatheses, and use of hirudin are discussed. ( info) |
| activated protein c resistance, usually because of factor v Leiden mutation, is considered to be the most common hereditary prothrombotic condition. A 9-year-old male with a basilar artery stroke and activated protein c resistance is described. The patient, found to be heterozygous for factor v Leiden mutation, is one of several recent reports that suggest that activated protein c resistance is an important risk factor for spontaneous arterial thrombosis in infancy and childhood. ( info) |
| Increased thrombin generation associated with resistance to activated protein C makes the latter a likely candidate for an increased risk of acute coronary events. activated protein c resistance (factor v Leiden) on its own, however, appears to have no significant effect in this regard. We describe a case of recurrent myocardial infarction caused by coronary thrombosis in a patient with persistent thrombocytopenia who was found to have a coexistence of heterozygous factor v Leiden and primary antiphospholipid syndrome. Since both thrombophilic disorders interfere with the protein C anticoagulant system, the simultaneous existence of inherited and acquired resistance against activated protein C could account for an increased thrombophilia with manifestation in the coronary arteries. This case suggests that evaluation of patients who present with recurrent acute coronary events should also consider these coagulation defects. ( info) |
| We present a patient with membranous glomerulonephritis, several clinical complications of the antiphospholipid syndrome and ulcerative colitis, but without lupus anticoagulant and antiphospholipid/cofactor antibodies. Immunological studies--other antibodies--were negative and failed to show enough criteria for any autoimmune diseases. Evaluation of her laboratory tests for hereditary thrombophilia revealed a heterozygous form of the Leiden mutation that might be associated with widespread vasculopathy. An interesting possibility is that the inherited activated protein c resistance could be an additional risk factor for vaso-occlusive manifestations appearing as a clinical sign of cardiovascular diseases and nephropathy. ( info) |