Antiphospholipid antibody syndrome in a six-year-old female patient

Hartnett, M. Elizabeth; Laposata, Michael; Cott, Elizabeth Van

doi:10.1016/s0002-9394(02)02078-0

Cited by 19 publications

(9 citation statements)

References 6 publications

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“…These include thrombophilic mutations in factor V Leiden, prothrombin 20210 and MTHFR 677. Consistent with some studies 24,25 and contrary to others 6,23 DNA sequencing from paraffin‐embedded tissue in our case did not reveal mutation in these hot spots. Chopra et al 24 .…”

Section: Discussionsupporting

confidence: 91%

Catastrophic antiphospholipid syndrome: A rare cause of disseminated microvascular thrombotic injury – a case report with pathological and molecular correlative studies

Lai

Walker

Elghetany

2005

Pathology International

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Catastrophic antiphospholipid syndrome (CAPS) is a severe and rare variant of antiphospholipid syndrome (APS) characterized by acute multiorgan failure due to small vessel thrombi in patients with positive antiphospholipid antibodies. We report a fatal case of catastrophic antiphospholipid syndrome in a young woman with a history of polymyositis and Hodgkin lymphoma. The patient was admitted to hospital because of severe foot pain following several weeks of skin ulcerations. Doppler ultrasonography showed evidence of arterial ischemia of the both lower extremities. Despite anticoagulation, immunosuppression, plasmapheresis and antibiotic therapy, she developed cutaneous gangrene, retroperitoneal hematoma, ileus, and acute respiratory and renal failure that resulted in death. Autopsy showed multifocal vascular injury and microthrombi with associated hemorrhages and infarcts in multiple organs. The patient had normal levels of functional protein C and protein S and a normal level of plasma homocysteine. Tests for common thromophilic gene mutations including prothrombin 20210, factor V Leiden 1691, and methylene tetrahydrofolate reductase 677 were negative. To our knowledge, this is the first CAPS patient with molecular studies for genetic prothrombotic mutations. Our report showed that there was no association between the development of CAPS and inherited thromophilia.

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Section: Discussionsupporting

confidence: 91%

Catastrophic antiphospholipid syndrome: A rare cause of disseminated microvascular thrombotic injury – a case report with pathological and molecular correlative studies

Lai

Walker

Elghetany

2005

Pathology International

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“…Previous reports have described retinal arteriolar occlusions in pediatric APS. 4,5 Hartnett et al 6 described a case of retinal venous thrombosis with subsequent neovascularization in a 6-year-old patient with primary APS. Consecutive CRVO and ophthalmic artery occlusion have been described in a 60-year-old patient with primary APS.…”

Section: Discussionmentioning

confidence: 99%

Sequential Central Retinal Vein and Ophthalmic Artery Occlusions in a Pediatric Case of Primary Antiphospholipid Syndrome

Gelman

Tsang

2016

RETINAL Cases &Amp; Brief Reports

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Purpose To report a case of sequential central retinal vein occlusion and ophthalmic artery occlusion in a patient with primary antiphospholipid syndrome. Methods Observational case report. Color fundus photography, fluorescein angiography, and optical coherence tomography were used to document the progression of a central retinal vein occlusion and sequential development of an ophthalmic artery occlusion within a 1-week period in a patient with primary antiphospholipid syndrome. Results A 15-year-old boy presented with unilateral blurry vision due to a central retinal vein occlusion along with other systemic symptoms. Within a 1-week period, he developed an ophthalmic artery occlusion in the same eye, with resulting bare light perception vision. Extensive evaluation by the pediatrics and rheumatology services led to a diagnosis of primary antiphospholipid syndrome as the etiology for the occlusions. Conclusion This case report illustrates the rapid sequential venous and arterial ocular thrombosis in a patient with primary antiphospholipid syndrome.

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“…A Medline search revealed only one case similar to ours-an otherwise-asymptomatic 6-year-old girl who developed unilateral isolated central retinal vein occlusion. 8 Her medical workup revealed elevated anticardiolipin IgG antibodies in a pattern suggestive of antiphospholipid antibody syndrome. She was treated with aspirin based on her antibody levels, although there is no evidence that such treatment is necessary in this setting when isolated central retinal vein occlusion is the only vascular event.…”

Section: Discussionmentioning

confidence: 99%

“…2,3 The patient's mother stopped the aspirin because the patient developed recurrent epistaxis. 8 In an otherwise healthy individual with isolated retinal venous occlusion, it is debatable whether screening for underlying thrombophilia is necessary. 2 The vast majority of affected patients are adults with one or more of the following risk factors: hypertension, diabetes, hyperlipidemia, smoking, or glaucoma.…”

Section: Discussionmentioning

confidence: 99%