Immune-mediated heparin-induced thrombocytopenia (HIT) is a well-defined syndrome. Clinical criteria (thrombocytopenia, resistance to heparin anticoagulation, or thromboses during heparin therapy) are defined, and serologic diagnostic tests are available. Earlier recognition of HIT syndrome has allowed for significant advances in therapy, leading to marked reductions in morbidity and mortality from HIT ...

Dubin-Johnson syndrome is neither complicated by liver cell necrosis nor associated with portal hypertension. We report a 22-year-old man who had recurrent episodes of jaundice (conjugated hyperbilirubinemia) because of Dubin-Johnson syndrome and portal hypertension secondary to portal vein thrombosis. The relationship between Dubin-Johnson syndrome and portal vein thrombosis in this ...

We herein report a 4-year-old boy with Miller Fisher syndrome (MFS) who presented with transient coma in addition to the typical triad of internal and external ophthalmoplegia, cerebellar ataxia and areflexia after an influenza type B infection. The electroencephalogram findings revealed intermittently generalized slow wave bursts. The cerebrospinal fluid revealed ...

Lemierre's syndrome comprises internal jugular vein thrombosis following oropharyngeal sepsis and is a rare and serious condition. It is most commonly caused by the anaerobe Fusobacterium necrophorum and typically presents as metastatic sepsis to the lungs and joints. Thrombosis is demonstrated by computed tomography (CT) of the neck, and it ...

A 30-year old male was admitted to the hospital with extremely painful blueish discoloration of his toes. After clinical and laboratory evaluation the diagnosis of a blue toe syndrome due to primary antiphospholipid syndrome (APS) was made. Complete resolution of the blue toe syndrome occurred within 72 hours following 9 ...

Autoantibodies against gangliosides GM1 and GQ1b, characteristic cell surface glycolipids of the nervous system, are present in specific clinical types of GuillainBarré syndrome (GBS). Close associations of anti-GM1 with acute motor axonal neuropathy, and of anti-GQ1b with Miller Fisher syndrome, strongly suggest that these antibodies contribute to neuropathy pathogenesis. Immune ...

Antiphospholipid antibodies (APAs) are circulating immunoglobulins associated with a hypercoagulable state. The antiphospholipid syndrome combines APAs and clinical manifestations, including arterial or venous thromboses and/or recurrent spontaneous fetal loss. The main risk incurred by endovascular treatment of intracranial aneurysms is the occurrence of thromboembolic events. We report two cases of ...

Hughes (antiphospholipid) syndrome is a condition in continuous evolution. Since it was first described almost 20 years ago, significant advances in its diagnosis and management have been made. Recently, classification criteria for definite antiphospholipid syndrome have been proposed and validated. However, there is still controversy regarding issues such as the ...

Behçet's syndrome is a multi-system inflammatory disease affecting mainly the oral and urogenital mucosa and the uveal tract. The etiology and pathogenesis of Behçet's syndrome are unknown, but autoimmune mechanisms are implicated. We initiated this work to identify self-antigens targeted by patients with Behçet's syndrome. We used patient sera to ...

A child showing signs of Henoch-Schönlein purpura developed a right tibiofibular vascular thrombosis. Antiphospholipid antibody tests were positive for both lupus anticoagulant and anticardiolipin antibodies. This suggests that an antiphospholipid syndrome should be considered in cases of Henoch-Schönlein purpura and antiphospholipid antibodies should be measured to determine whether prophylactic antithrombotic ...

It is well known that women with systemic lupus erythematosus (SLE) who have antiphospholipid antibodies (aPL) are at increased risk for pregnancy loss. Additionally, other reproductive processes, such as unexplained infertility and implantation failure after in vitro fertilization and embryo transfer may be affected by aPL. Thus, clinical manifestations of ...

The antiphospholipid or Hughes syndrome is the association between antiphospholipid antibodies (aPL), venous and arterial thromboses and pregnancy morbidity. Antiphospholipid syndrome (APS) commonly coexists with autoimmune diseases usually systemic lupus erythematosus (SLE), when it is known as secondary APS. When present in isolation it is known as primary APS (PAPS). ...

Two female patients are reported, who presented with Budd-Chiari syndrome (hepatic vein thrombosis), and were found to have both, antiphospholipid antibodies and homozygous factor V Leiden mutation. Both patients also had recurrent fetal losses, as well as splenic and portal vein thrombosis. The coexistence of homozygous factor V Leiden mutation ...

We report on a 28-year old patient with polycystic ovary syndrome (PCOS) who presented with fever and laboratory markers of inflammation. Her medical history was relevant for multiple ovulation inductions (OI) and ovarian hyperstimulation syndrome (OHSS). She had two miscarriages and one preterm delivery. Intracardiac thrombosis was diagnosed in the ...

Painful bilateral ophthalmoparesis, marked proptosis, increased intraocular pressure, and blindness developed in a 29-year-old woman with protein C deficiency and catastrophic antiphospholipid syndrome. Magnetic resonance imaging of the orbits showed bilateral proptosis, globe tenting, and tethering of the optic nerves consistent with an orbital ischemic syndrome. Despite aggressive therapy for ...

A 58-year-old woman developed bilateral facial myokymia in 1978, persisting for the next 23 years and associated with high titers of voltage-gated K(+) channel (VGKC) antibodies. Brain imaging failed to show a pontine lesion. The clinical facial myokymia and electromyographic doublets and multiplets (43 to 250 Hz) were milder and ...

We report the rare case of a 51-year-old man with asynchronous (heterochronic) bilateral renal infarction associated with primary antiphospholipid syndrome. He was treated for right renal infarction, but 2 months later, while under anticoagulant treatment, he had a recurrence on the other side of the renal infarction. The laboratory work-up ...

Lemierre's syndrome, also known as postanginal sepsis, is a rare condition that presents as an increasing sore throat due to acute pharyngitis or tonsillitis and progresses to sepsis, due to suppurative thrombophlebitis of the internal jugular vein. We present an atypical case of Lemierre's syndrome complicated by carotid thrombosis. The ...

Antiphospholipid antibodies are strongly associated with thrombosis and are the most common of the acquired blood protein defects causing thrombosis. Although the precise mechanism(s) whereby antiphospholipid antibodies alter hemostasis to induce a hypercoagutable state remain unclear, numerous theories, as previously discussed, have been advanced. The most common thrombotic events associated ...

Antiphospholipid antibody syndrome (APS) is now recognized as an important risk factor for young stroke. Recurrent stroke seems to be common in patients with APS and a first stroke, recurrent stroke and vascular dementia are feared consequences of APS. We are reporting a case of primary APS with recurrent stroke ...

We report the case of a female patient who had severe thrombotic complications in peripheral (V. jugularis, subclavia, brachialis, poplitea) and visceral (portal and splenic) veins 4 years after the first diagnosis of severe ulcerative pancolitis. A thrombolysis therapy for subclavian and jugular vein thrombosis was performed without complication, but ...

Behçet's disease frequently involves the venous system, usually affecting small vessels, but sometimes large vessels such as the vena cava. Antiphospholipid antibody syndrome is associated with an increased incidence of arterial and venous thrombosis. A 29-year-old male with Behçet's disease developed bilateral leg edema secondary to thrombotic occlusion of the ...

Sneddon syndrome is characterized by livedo reticularis and multiple cerebral infarctions. Skin and central nervous system symptoms usually have a synchronous onset and at times initial symptoms affect one of them, the other lagging several years behind. We here report a patient with Sneddon syndrome who developed multiple cerebral infarctions ...

Portal vein thrombosis is a rare occurrence, and often an underlying hypercoagulable state can be found. Recently, there has been growing interest and recognition of the antiphospholipid syndrome in association with acquired hypercoagulable state. This syndrome consists of the association of lupus anticoagulant or antiphospholipid antibodies with arterial or venous ...

The antiphospholipid syndrome (APS) is characterized by unpredictable, sporadic, thrombotic events. The cause of the thrombosis is probably multifactorial and may involve disparate effects of the autoantibodies associated with the syndrome, which are known to interfere with various protein regulators of hemostasis. An integrated theory of pathogenesis that accounts for ...

Despite an active international effort to improve diagnosis and treatment of the antiphospholipid syndrome (Hughes syndrome), there remain problems of lack of standardization and lack of prospective and multivariate epidemiologic analysis which restrict the diagnostic and predictive ability of commercially available tests. Nevertheless, current published series provide some data from ...

Vitiligo is common in the hereditary disorder autoimmune polyendocrine syndrome type I (APS I). Patients with APS I are known to have high titer autoantibodies directed against various tissue-specific antigens. Using sera from APS I patients for immunoscreening of a cDNA library from human scalp, we identified the transcription factors ...

Antiphospholipid syndrome is characterized by venous and arterial thrombosis, thrombocytopenia, stroke and, rarely, acute coronary syndromes. However, there are no data available regarding the management of acute myocardial infarction in primary antiphospholipid syndrome with accompanying severe thrombocytopenia and cardiogenic shock. We describe such a case, which was managed by successful ...

We report a case of Hughes syndrome 1 week after the occurrence of chickenpox. The patient presented with the clinical picture of acute right iliofemoropopliteal deep vein thrombosis. IgM and IgG anticardiolipin (aCL) were both positive upon admission. The IgM aCL antibodies were still positive 6 weeks later, which suggests ...

PURPOSE: To report nonarteric anterior ischemic optic neuropathy (NAION) as an ocular manifestation in a woman with combined primary antiphospholipid syndrome and Factor V Leiden (FVL) mutation. METHODS: Case report of a middle-aged woman with hematological investigations confirming the diagnosis of both primary antiphospholipid syndrome and Factor V Leiden mutation, ...

BACKGROUND: There are several case reports describing paraneoplastic syndromes in patients with various forms of bladder carcinoma. Current immunologic analyses have enabled the identification of the antineuronal autoantibodies associated with specific syndromes. METHODS: A patient with a history of bladder carcinoma presented with opsoclonus and myoclonus. RESULTS: Workup confirmed the ...

The anti-Hu antibody (HuAb) is directed against RNA-associated neuronal proteins and is known to cause paraneoplastic encephalomyelitis/sensory neuronopathy syndrome mostly when associated with small cell lung cancer (SCLC). Paraneoplastic encephalomyelitis/sensory neuronopathy syndrome with concurrent autonomic neuropathy has been reported to occur in paraneoplastic syndromes, although its occurrence concomitant with acute ...

Background: Although clinically evident and MRI confirmed, basal ganglia involvement, is usual in primary antiphospholipid syndrome, extrapyramidal disorders such as parkinsonism and dystonia are very rare. We were unable to find any report in the literature on dystonia-parkinsonism in patients with primary antiphospholipid syndrome. Here we report an adult patient ...

We report a case of 52-year-old woman with primary antiphospholipid syndrome who developed mitral insufficiency and chronic renal failure. Continuous ambulatory peritoneal dialysis was started preoperatively due to thrombocytopenia that was aggravated by hemodialysis. Mitral annuloplasty was performed since the mitral valve was not severely damaged. Her postoperative hemodynamics were ...

The objective of this paper is to describe an 81-year-old woman with subacute cerebellar degeneration due to fallopian tube adenocarcinoma. Serum anti-Yo antibodies were used to screen for pelvic malignancy. Their presence led to a meticulous search, which included bilateral salpingoophorectomy. Subsequently an occult fallopian tube adenocarcinoma was discovered. This ...

A girl with Down's syndrome, moyamoya disease and sagittal sinus thrombosis is described. She was diagnosed after acute neurological deterioration by MRI and angiography. Recombinant tissue plasminogen activator (r-TPA) was injected locally to recanalise the thrombus. The patient's condition significantly improved and she was discharged. After 2 years of follow-up ...

We present a case of intestinal amoebiasis with subsequent development of antiphospholipid syndrome, manifested by deep vein thrombosis and pulmonary emboli. Anticardiolipin antibodies (aCL) of IgM type at medium titer and aCL IgG antibody at low titer were determined during the days after the onset of infection. To our knowledge ...

BACKGROUND: The piriformis syndrome, which was first described 60 years ago, is a well recognized cause of sciatica, leg pain and low back pain, due to the entrapment of the sciatic nerve in the piriformis and other rotator muscles. Very few complications relating to this syndrome have been described. AIMS: ...

Antiaggregant and anticoagulant drugs are essential in the management of the manifestations due to antiphospholipid syndrome (APS) in patients with primary Hughes' syndrome or systemic lupus erythematosus. Coumadin derivatives (warfarin and acenocumarol), heparin and aspirin are used for secondary thromboprophylaxis and treatment of recurrent miscarriage. The available evidence for each ...

The antiphospholipid antibody syndrome may be associated with connective tissue disorders. We describe a patient with catastrophic antiphospholipid antibody syndrome secondary to systemic lupus erythematosus who presented with recurrent abdominal symptoms. Our patient died, and autopsy revealed hemorrhagic infarction of bowel with numerous mesenteric hemorrhages. The treatment for antiphospholipid antibody ...

We describe a boy, 10 years and 5 months old, who developed acute adrenal gland insufficiency which was confirmed by hormonal investigation. Abdominal magnetic resonance imaging showed unilateral enlargement of the right adrenal gland, whereas the other gland seemed normal - no cause was apparent. Three months later the patient ...

We report a 56-year-old Korean woman with porphyria cutanea tarda (PCT), showing multiple scarring bullae and hypertrichosis on sun-exposed areas of skin with postinflammatory hyperpigmentation. Sclerodermoid changes were also found on both hands, the face and neck. The patient had suffered from CREST syndrome, manifesting with Raynaud's phenomenon and sclerodactyly, ...

The antiphospholipid antibody syndrome (APS) is characterized by arterial or venous thromboses and recurrent foetal loss. It occurs as primary disease, but also in the context of systemic lupus erythematosus (SLE). Whereas primary APS induces a thrombotic microangiopathy without significant inflammatory reaction, secondary APS in SLE is usually associated with ...

We describe a case of primary antiphospholipid syndrome presenting with varied arterial abnormalities. Patients with antiphospholipid syndrome commonly present with thrombotic problems, but there is a subgroup of patients who develop aneurysms with no evidence of vasculitis. This may represent part of the spectrum of the syndrome itself rather than ...

Antiphospholipid antibodies (APA) are a common cause of acquired thrombophilia. APA recognize plasma phospholipid-binding proteins (e. g., beta(2)-glycoprotein I, prothrombin, annexin V, etc.). Catastrophic antiphospholipid syndrome (CAPS) is an uncommon variant of the antiphospholipid syndrome. CAPS patients often present with multiorgan failure. Precipitating factors include surgical procedures, drugs, and discontinuation ...

Catastrophic antiphospholipid syndrome (CAPS) is a severe variant of antiphospholipid syndrome (APS) characterized by disseminated microangiopathy that results in multiorgan failure. CAPS mainly occurs in association with systemic lupus erythematosus (SLE). Clinically, CAPS mimics disseminated SLE vasculitis, intravascular coagulation (DIC), and particularly thrombotic thrombocytopenic purpura (TTP). We describe an autopsy ...

Anti-phospholipid antibodies (aPL) have been associated with a variety of neurologic manifestations. The evidence for an association between aPL and most of these is weak because (1) no association actually exists, (2) the manifestation is rare or (3) sufficiently powered studies have not been performed. The only neurologic manifestation that ...

Since its description in 1965, Sneddon syndrome (SNS) is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The presence of many other manifestations suggests that it is a systemic syndrome. The prevalence of anti-phospholipid antibodies (aPL) is highly variable, 41% in our experience. ...

In its classic presentation, the antiphospholipid syndrome manifests a combination of venous or arterial thrombosis and fetal loss, accompanied by elevations of antibodies directed toward negatively charged phospholipids, as measured by anticardiolipin antibody assays and/or positive lupus anticoagulant tests. The manifestations often include a moderate thrombocytopenia and, less commonly, hemolysis. ...

BACKGROUND: Numerous studies in Europe have documented a high prevalence of celiac disease in Down syndrome. This study was undertaken to estimate the prevalence of celiac disease in Down syndrome in the southeastern United States. METHODS: Seventy-five patients with Down syndrome were screened using immunoglobulin (Ig)A-anti antiendomysium antibodies, IgA-antigliadin antibodies, ...