Familial antiphospholipid syndrome presenting as bivessel arterial occlusion in a 17-year-old girl

Jelušić, Marija; Starčević, Katarina; Vidović, Mandica; Dobrota, Savko; Potočki, Kristina; Banfić, Ljiljana; Anić, Branimir

doi:10.1007/s00296-011-2300-5

Cited by 3 publications

(2 citation statements)

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“…In 2013, Jelušić et al [4] reported a case of a 17-year-old girl with primary APS developing subacute signs of hand and leg ischemia caused by radial and popliteal artery occlusions associated with triple APL positivity. The mother of the girl presented just months later with symptoms of super cial thrombophlebitis and blood tests showed triple APL positivity with possible secondary APS related to evolving SLE.…”

Section: Discussionmentioning

confidence: 99%

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Spectrum of juvenile antiphospholipid syndrome in two siblings: Case reports and review of literature

Fathalla¹,

Khawaja²,

Afzal³

2020

Preprint

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BackgroundAntiphospholipid syndrome (APS) in children together with familial APS is extremely rare, differs from adult APS, and has no validated diagnosis criteria. Use of adult APS classification criteria for the diagnosis of pediatric APS may result in missed or delayed diagnoses in children as non-thrombotic clinical manifestations may precede thrombotic manifestations for prolonged periods. We report rare triple positivity of antiphospholipid antibodies (aPL) in two siblings presenting with a variable spectrum of juvenile primary APS manifestations and a review of literature.Case reportTwo siblings presented with a variable spectrum of juvenile primary APS manifestations at 13 years of age. Both patients had high triple aPL positivity on multiple occasions at least 12 weeks apart including positive anticardiolipin antibodies, anti-β2-glycoprotein 1 antibodies, and lupus anticoagulant tests. The older brother, currently 16 years of age, had a spectrum of clinical manifestations during his disease course including cutaneous thrombotic microangiopathy, arthralgia, and pulmonary embolism. His sister is currently 14 years of age and she presented with non-thrombotic clinical manifestations, was immediately screened, and diagnosed with triple aPL positivity at 13 years of age. A seven years old healthy brother was screened once and had negative aPL test results. Systemic investigations including work up for systemic lupus erythematosus in both symptomatic siblings were unremarkable and whole exome sequencing was inconclusive. Human leukocyte antigen (HLA) screen revealed positive HLA-DR4 and DQB1*0302 tests for both symptomatic siblings but not for the healthy brother.ConclusionWe conclude that non-thrombotic clinical manifestations may precede thrombotic manifestations in primary APS in children, and this may cause significant delays in the diagnosis. Familial primary APS is very rare but may occur and high index of suspicion is required to test relatives with subtle clinical manifestations. Our case reports further support possible HLA-DR and -DQ associations with aPL antibodies.

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Section: Discussionmentioning

confidence: 99%

“…The exact incidence and prevalence of APS in children is unknown; however, it seems that primary and secondary APS occur in children with similar frequency [3]. Familial APS is very rare and juvenile primary APS in siblings is extraordinarily rare [4,5].…”

Section: Introductionmentioning

confidence: 99%