Antiphospholipid antibody syndrome

Yang, Paul; Kruh, Jonathan N.; Foster, C. Stephen

doi:10.1097/icu.0b013e328358b937

Cited by 16 publications

(18 citation statements)

References 29 publications

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“…Our observation suggests that SLE-associated antiphospholipid syndrome (APS) is not likely a main mechanism in Purtscher-like retinopathy, although APS can lead to thrombosis. Typical manifestations of APS, including recurrent pregnancy complications (miscarriage, preterm birth, preeclampsia, eclampsia, and placental insufficiency), central or branch retinal vein/ artery occlusion, ischemic stroke, and proximal deep vein thrombosis, 24 were not present in any of the cases in our study. Antiphospholipid antibodies were only present in 3 patients in this case series, which was not more prevalent compared to patients without Purtscher-like retinopathy.…”

Section: Purtscher Retinopathy Was Initially Described Incontrasting

confidence: 54%

Purtscher-like Retinopathy in Systemic Lupus Erythematosus

Dai

Fang

et al. 2014

American Journal of Ophthalmology

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Section: Purtscher Retinopathy Was Initially Described Incontrasting

confidence: 54%

Purtscher-like Retinopathy in Systemic Lupus Erythematosus

Dai

Fang

et al. 2014

American Journal of Ophthalmology

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“…While elevated homocysteine 53 and antiphospholipid syndrome 66 have received the most attention regarding thrombophilias associated with OVO, our study demonstrates the importance of testing for the common and highly prothrombotic familial thrombophilias, FVL and PTG mutations, and illustrates how FVL and PTG heterozygosity may present with OVO as a first thrombotic event. It is important for the ophthalmologist to diagnose underlying coagulation disorders as both an etiology for OVO and as a window to family screening and preventive therapy for the family and the proband.…”

Section: Discussionmentioning

confidence: 67%

Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

Schockman¹,

Glueck²,

Hutchins³

et al. 2015

OPTH

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AimThis study aimed to assess the diagnostic ramifications of vascular occlusion of the ocular vein and artery as a first thrombotic event associated with factor V Leiden (FVL) and/or prothrombin gene (PTG) heterozygosity.MethodsPatients with ocular vein (n=191) and artery (n=74) occlusion, free of cardioembolic etiologies, were sequentially referred from vitreoretinal specialists for measurement of thrombophilia-hypofibrinolysis and compared to 110 healthy normal controls.ResultsOf the 265 patients, 29 (11%; 17 women, 12 men) of all referred ocular vascular occlusion (OVO) cases were found to be heterozygous for FVL and/or PTG, including 16 with FVL, 12 with PTG, and 1 with both. Of the 29 cases, 16 had central retinal vein occlusion (CRVO), 2 branch retinal vein occlusion (BRVO), 5 nonarteritic anterior ischemic optic neuropathy (NA-AION), 3 retinal artery occlusion (RAO), 2 amaurosis fugax (AF), and 1 had both CRVO and RAO. Of the 16 FVL cases, 15 (94%) had OVO as a first thrombotic event without prior deep venous thrombosis (DVT) or pulmonary embolism (PE); 6 (38%) also had other thrombotic events, including recurrent miscarriage, osteonecrosis, ischemic stroke, and/or ischemic colitis; and 5 (31%) had immediate family members with previous venous thromboembolism (VTE). Of the 12 PTG cases, 9 (75%) had OVO as a first thrombotic event, 5 (42%) experienced VTE other than DVT or PE, and 6 (50%) had immediate family members with VTE. In one patient with both FVL and PTG, DVT occurred before BRVO. Of the 17 women with FVL and/or PTG mutations, 7 (41%) experienced ≥1 miscarriage, 6 (35%) were on estrogen therapy, and 1 (6%) was on clomiphene.ConclusionOf the 265 patients with OVO, 29 (11%) had FVL and/or PTG, and 83% of these 29 cases presented with OVO as their first thrombotic event. By diagnosing thrombophilia as an etiology for OVO, the ophthalmologist opens a window to family screening and preventive therapy.

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“…In our study, the average waiting time from referral to when the patient was seen by the consulting rheumatologist was 165 days (> five months). Although it is intuitive, there is evidence that an early and accurate diagnosis of patients with rheumatic diseases improves health outcomes while reducing health care costs [35], [43]–[48]. In our study, the vast majority (∼80%) of referrals for a positive ANA was from general practitioners (GPs) and at least one study has shown that the threshold used by GPs for referral to rheumatologists is low leading to lengthy wait times [49].…”

Section: Discussionmentioning

confidence: 78%

Clinical and Serological Features of Patients Referred through a Rheumatology Triage System because of Positive Antinuclear Antibodies

et al. 2014

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BackgroundThe referral of patients with positive anti-nuclear antibody (ANA) tests has been criticized as an inappropriate use of medical resources. The utility of a positive ANA test in a central triage (CT) system was studied by determining the autoantibody profiles and clinical diagnoses of patients referred to rheumatologists through a CT system because of a positive ANA test.MethodsPatients that met three criteria were included: (1) referred to Rheumatology CT over a three year interval; (2) reason for referral was a “positive ANA”; (3) were evaluated by a certified rheumatologist. The CT clinical database was used to obtain demographic and clinical information and a serological database was used to retrieve specific ANA and/or extractable nuclear antigen (ENA) test results. Clinical information was extracted from the consulting rheumatologist's report.Results15,357 patients were referred through the CT system; 643 (4.1%) of these because of a positive ANA and of these 263 (40.9%) were evaluated by a certified rheumatologist. In 63/263 (24%) of ANA positive patients, the specialist provided a diagnosis of an ANA associated rheumatic disease (AARD) while 69 (26.2%) had no evidence of any disease; 102 (38.8%) had other rheumatologic diagnoses and 29 (11%) had conditions that did not meet AARD classification criteria. Of ANA positive archived sera, 15.1% were anti-DFS70 positive and 91.2% of these did not have an AARD.ConclusionsThis is the first study to evaluate the serological and clinical features of patients referred through a CT system because of a positive ANA. The spectrum of autoantibody specificities was wide with anti-Ro52/TRIM21 being the most common autoantibody detected. Approximately 15% of referrals had only antibodies to DFS70, the vast majority of which did not have clinical evidence for an AARD. These findings provide insight into the utility of autoantibody testing in a CT system.

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Antiphospholipid antibody syndrome

Abstract: A better understanding of the pathophysiology behind antiphospholipid antibody syndrome has led to novel approaches in the diagnosis and treatment of this disease.

Cited by 16 publications

References 29 publications

Purtscher-like Retinopathy in Systemic Lupus Erythematosus

Purtscher-like Retinopathy in Systemic Lupus Erythematosus

Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

Clinical and Serological Features of Patients Referred through a Rheumatology Triage System because of Positive Antinuclear Antibodies

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