Intracardial thrombosis and primary antiphospholipid syndrome. A familial case report

The main clinical manifestation of antiphospholipid syndrome is repeated thrombotic events in young patients without cardiovascular risk factors. There are several clinical features but the most frequent ones are repeated fetal losses and acute cerebral ischemic events. Cardiac involvement is less frequent. We present a family case with intracardiac thrombosis and secondary cerebral embolism.     

The impact of antibody profile in thrombosis associated with primary antiphospholipid syndrome

Triple positivity (TP) for antiphospholipid antibodies(aPL) may identify aPL carriers with poorer prognosis. The clinical impact of TP in primary antiphospholipid syndrome(PAPS) remains unclear and further clinical evidences are needed to validate TP as a marker of severity. The aim of this study was to evaluate the impact of TP on the clinical course of PAPS with thrombosis(t‐PAPS). We performed a retrospective analysis of a cohort of t‐PAPS patients, comparing groups of patients with TP and non‐TP profiles according to their demographic, clinical and laboratory features. We included 105 patients with t‐PAPS, the median follow‐up time of 3.7 years. Twenty‐two patients(21%) had TP; the demographic distribution, the presence of cardiovascular risk factors and the site of thrombosis were similar between TP and non‐TP patients. The frequency of thrombotic events did not differ between TP and non‐TP patients during the study period. Pregnancy morbidities were more frequent in women with t‐PAPS and TP than in those with non‐TP profile (80% vs. 52.8%, P = 0.05). Patients with t‐PAPS and TP presented, at diagnosis, higher dRVVT ratio (median R = 2.44 vs. 1.57, P < 0.0001), higher aCL titer (median = 50UI vs. 35 UI, P < 0.0001), lower C3 levels (median = 1.08 vs. 1.30 mg dL^?1, P = 0.001), lower C4 levels (median = 0.22 vs. 0.25 mg dL^?1, P = 0.05) and higher frequency of positive ANA test (50% vs. 20%, P = 0.008) than patients with t‐PAPS and non‐TP. Lower‐than‐normal levels of C3 was independently associated with TP (OR = 5.1, P = 0.02). The presence of TP in patients with t‐PAPS was associated with immune derangement, with no effect on the clinical course of the disease.     

Food anaphylaxis in antiphospholipid syndrome and thrombosis

BackgroundWe have observed that some cases of food anaphylaxis were followed by severe thrombosis associated to anticardiolipin antibodies. Food anaphylaxis associated with antiphospholipid syndrome has seldom been published.ObjectiveThe aims were: 1) to test anticardiolipin antibodies in an important number of patients with anaphylaxis due to vegetal foods and their relationship with possible thrombosis; and 2) to study seed and fruit hypersensitivity in patients with previous thrombotic events associated with antiphospholipid antibodies (aCL).MethodsWe included 30 patients diagnosed of thrombosis associated with aCL, 52 patients who suffered from anaphylaxis due to seeds or fruits, and 120 control patients. Haematological, cardiopulmonary vascular and rheumatologic studies had been performed as needed. In vivo and in vitro allergy tests with a large battery of vegetal allergens were carried out in all the patients. Measurement of IgG aCL antibodies and specific IgE to vegetal food was done by ELISA and CAP-FEIA (Phadia). Immunodetection and inhibitions with lipoproteins belonging to seeds were performed.ResultsSeventy-five percent of the patients diagnosed as having antiphospholipid primary syndrome had specific IgE against different proteins from different vegetable allergens, most of them seeds, and clearly against lipoproteins that were also recognised by the patients with food anaphylaxis but not by the control cases. Among the patients with anaphylaxis, 28% had anticardiolipin antibodies and 17.3% thrombosis.ConclusionOur study suggests that seed lipoproteins which cause severe food anaphylaxis might have a potential role in the antiphospholipid syndrome and related thrombosis.     

Recurrent deep vein thrombosis and Addison's disease in "primary" antiphospholipid syndrome

We describe a 43-year-old Caucasian man who, after a 10 year history of recurrent deep vein thromboses and pulmonary emboli, was found to have a "lupus anticoagulant" and marked elevation of antibodies to cardiolipin. He subsequently developed skin and buccal pigmentation and biochemical investigations revealed the presence of Addison's disease. The relationship of the Addison's disease to the recurrent thrombotic events in the presence of antibodies to phospholipids is discussed.     

Association of arterial events with the coexistence of metabolic syndrome and primary antiphospholipid syndrome

Objective

Metabolic syndrome (MetS) is highly prevalent in rheumatic diseases and is recognized as a new independent cardiovascular risk factor. This study was undertaken to determine the clinical significance of MetS in patients with primary antiphospholipid syndrome (APS).

Methods

Seventy‐one primary APS patients and 73 age‐ and sex‐matched healthy controls were included. Serum samples were tested for lipid profile, Lp(a), glucose, insulin, thyroid‐stimulating hormone, free T4, erythrocyte sedimentation rate, C‐reactive protein level, and uric acid. MetS was defined by the International Diabetes Federation criteria, and insulin resistance was established using the homeostasis model assessment index.

Results

The prevalence of MetS was 33.8%, and further comparison between primary APS patients with and without MetS revealed that the former had a higher frequency of arterial events (79.2% versus 42.6%; P = 0.003), angina (29.2% versus 2.1%; P = 0.002), and positive lupus anticoagulant antibody (95.8% versus 76.6%; P = 0.049). In addition, primary APS patients with MetS, as expected, had a higher prevalence of cardiovascular risk factors. On multivariate analysis, only MetS was independently associated with arterial events in primary APS.

Conclusion

Coexistence of primary APS and MetS seems to identify a subgroup of patients with higher risk of arterial events, suggesting that MetS may aggravate existing endothelial abnormalities of primary APS.     

Simultaneous presentations of deep vein thrombosis and cerebral sinus thrombosis in a case of primary antiphospholipid syndrome

Antiphospholipid syndrome is characterized with arterial and venous thrombosis. In this article, a 38-year-old man presented with headache and swelling of his left limb, which had lasted for 2 months. Duplex ultrasonography showed thrombosis of the left femoral vein. Cerebral magnetic resonance imaging also showed cerebral sinus thrombosis. Serological examination showed that antiphospholipid syndrome was the underlying disease condition in this patient. Despite adequate anticoagulant therapy, deep vein thrombosis and cerebral sinus thrombosis exacerbated, resulting in inferior vena cava occlusion, papilloedema, and abducent nerve paralysis. Optic canal decompression and cistern-peritoneal shunt operation were performed, following which his neurological symptoms were relieved. The occurrence of cerebral sinus thrombosis as initial presentation of antiphospholipid syndrome is extremely rare and remains a diagnostic challenge. Although the clinical presentation is highly variable, the diagnosis should be considered in patients with antiphospholipid syndrome presenting with recent unusual headaches. Improved diagnosis and treatment strategy may ultimately improve the clinical outcome of these patients.     

Severe thrombophilia with antiphospholipid syndrome and hyperhomocysteinemia in a patient with Schnitzler's syndrome

Schnitzler's syndrome is a rare condition with chronic urticaria, intermittent fever, bone pain, and a monoclonal IgM gammopathy. Most patients have a chronic and indolent course, but a small number ultimately progress to a lymphoplasmacytic malignancy. We describe a patient with Schnitzler's syndrome who entered an accelerated phase of clinical deterioration with repeated thromboses of the cerebral and coronary arteries that ultimately led to a fatal outcome. We found that the he fulfilled the Sapporo criteria for definite antiphospholipid syndrome and had elevated blood levels of homocysteine during the active clotting phase of the disease. We suggest that the association with immune-mediated or metabolic disorders, such as the antiphospholipid syndrome and hyperhomocysteinemia, may unfavorably affect the otherwise chronic and stable course of patients with Schnitzler's syndrome. The systemic clotting disorder, the association with the antiphospholipid syndrome and hyperhomocysteinemia, and the biclonal rather than monoclonal IgM gammopathy were striking features of this atypical case of Schnitzler's syndrome.     

Primary idiopathic pulmonary hypertension complicated by pulmonary arterial thrombosis. Association with antiphospholipid antibodies

Objective. We report an unusual case of primary pulmonary hypertension and review the pertinent literature. Methods. A 25-year-old Caucasian woman presented with progressive dyspnea and was found to have pulmonary hypertension. Antiphospholipid antibodies were present. The patient had a prolonged hospital course, was unresponsive to therapy, and died suddenly. Results. Postmortem examination revealed a large thrombus affecting the right main pulmonary artery, with plexogenic arteriopathy bilaterally. Conclusion. This appears to be the first reported case of primary pulmonary hypertension complicated by thrombosis of a main pulmonary artery in association with antiphospholipid antibodies.     

Association between hyperhomocysteinemia and primary pulmonary hypertension

STUDY OBJECTIVE: This case-control study was conducted to test the hypothesis that fasting homocysteine levels are higher in PPH patients than in healthy controls. DESIGN: Levels of plasma total homocysteine, serum folate, vitamin B-12, and serum creatinine in 18 consecutive patients with PPH were compared with data from 36 age- and sex-matched controls. RESULTS: Eight of the 18 patients (44.4%) and three of the 36 controls (8.3%) had elevated plasma total homocysteine (tHcy) levels (> or = 15 mol/l, odds ratio 8.8; 95% CI: 2.0-39.6; P = 0.005). There was an inverse correlation between tHcy levels and creatinine clearance in patients with PPH (P = 0.036). CONCLUSION: PPH patients are significantly more likely to have hyperhomocysteinemia, and higher mean plasma total homocysteine levels than in controls. Plasma total homocysteine may be an important factor in the pathogenesis of PPH.     

Management of thrombosis in antiphospholipid antibody syndrome

Antiphospholipid antibody positive patients are at risk for venous and arterial thrombosis. The risk of recurrent thromboembolism is high. Although the standard of care is high-intensity warfarin after a thromboembolic event, some studies indicate that this degree of anticoagulation is not needed. There is an urgent need of clinical trials to address management of thrombosis in antiphospholipid syndrome.     

Ovarian vein thrombosis in the antiphospholipid syndrome

Ovarian vein thrombosis (OVT) is an unusual condition mainly observed during the postpartum period. It has not been reported to date in the antiphospholipid syndrome. Two female patients with definite antiphospholipid syndrome, ages 33 years and 73 years, were diagnosed as having OVT by computed tomography (CT) scan, according to the radiologic criteria described by Zerhouni et al. In 1 of the women, the left vein was affected by OVT, while in the other woman, the right vein was affected. One of the patients had a pulmonary embolism; the diagnosis of OVT was established after she underwent a cesarean section and a right atrium thrombectomy. The other patient had no vascular manifestations. OVT was asymptomatic in both patients. Searches for associated thrombophilic states yielded negative results. With the continuation of anticoagulation therapy, the 2 patients have remained in good condition. Resolution of the OVT was observed in the patient who underwent a CT scan during followup. To our knowledge, this is the first report of OVT occurring in the antiphospholipid syndrome. Given that it may develop in the absence of pelvic clinical manifestations, this complication may be underdiagnosed.     

A case of primary antiphospholipid syndrome complicated with pulmonary hypertension]

We describe the case of 55-year old male with antiphospholipid syndrome (APS) who developed pulmonary hypertension without any thromboembolic episode. Multiple pulmonary perfusion defects suggestive of in situ thrombosis were observed. Hematological findings revealed microangiopathic hemolytic anemia and thrombocytopenia. These findings were improved by anticoagulant therapy. We monitored mean pressure of pulmonary artery (mPAP) and total pulmonary vascular resistance (TPR) before and after using vasodilator agents by Swan-Ganz catheter. mPAP and TPR showed improvement on treatment with oxygen supplementation therapy and Isosorbide administration. Previously 11 cases with APS complicated with pulmonary hypertension were reported. Majority of these patients have had recurrent venous thrombosis, particularly deep vein thrombosis often accompanied by pulmonary thromboembolism (8/11 cases, 72%). However in this case pulmonary hypertension with APS may be induced by in situ thrombosis in pulmonary micro vessels.     

高同型半胱氨酸血症对老年原发性高血压患者动脉僵硬度的影响

目的 探讨高同型半胱氨酸血症(HHcy)对老年原发性高血压患者动脉僵硬度的影响。方法 选择老年原发性高血压患者66例(高血压组),其中HHcy 32例,非HHcy 34例。另外入选无高血压史老年健康体检者58例(对照组),其中HHcy 14例,非HHcy 44例。测定2组患者血脂、空腹血糖、空腹胰岛素及血同型半胱氨酸(Hcy)水平,计算稳态模型胰岛素抵抗指数。通过颈动脉-股动脉肢体动脉搏动波(cfPWV)评估动脉僵硬度。结果 高血压组Hcy和cfPWV显著高于对照组[(15.48±6.38)μmol/L vs(12.96±4.01)μmol/L,P0.05;(14.46±1.62)m/s vs(10.81±1.59)m/s,P0.05]。所有受试者血浆Hcy与cfPWV呈正相关(r=0.529,95%CI:0.040~0.079,P0.01)。高血压组HHcy患者胰岛素抵抗指数和cfPWV显著高于非HHcy患者[3.84±2.16 vs 2.58±1.56,P=0.018;(14.97±1.22)m/s vs(11.09±1.49)m/s,P=0.004]。结论 伴有HHcy的老年原发性高血压患者动脉僵硬度增高,可能与促进胰岛素抵抗等机制有关。     

Recurrent coronary thrombosis, factor V Leiden, primary antiphospholipid syndrome and HIV

We describe a 54-year-old man who was HIV-positive, admitted for cardiogenic shock complications inferior myocardial infarction. He was treated with primary percutaneous transluminal angioplasty (PCTA) and stent deployment in mid right coronary artery. After a few days thrombotic occlusion of the stent occurred, and the problem recurred during implantation of a new stent in the course of a second PTCA. We detected coinheritance of factor V Leiden, primary antiphospholipid syndrome and antithrombin deficiency. We discuss the role of these coagulation disorders in acute myocardial infarction as well as the treatment and course of the coronary syndrome in this context.     

Extensive portocava thrombosis revealing a primary antiphospholipid syndrome: a case report

We report a 20-year-old woman who presented with a massive portal thrombosis that rapidly extended to the superior and inferior vein cava system causing an acute Budd-Chiari syndrome. The investigations concluded to a primary antiphospholipid syndrome without any other prothrombotic factors. The outcome was fatal, 18 months later, despite anticoagulation, with hepatorenal syndrome and severe liver failure.