Neurofbromatosis type I and antiphospholipid syndrome

Abstract

Neurofibromatosis type I and antiphospholipid syndrome Neurofibromatosis tipo I y síndrome antifosfolípidos To the Editor: neurofibromatosis type i (nF-1), an autosomal dominant disorder, can be considered as a pseudovasculitis. 1 Vascular abnormalities, mostly aneurysms or stenosis of the aortic, renal, and mesenteric circulation, are well-recognized in nF-1 patients 2. the relationship of nF-1 with the so-called antiphospholipid syndrome (APS) 3 is enigmatic. We herein report an interesting case of nF-1 followed by typical features of APS. the patient, a 38-year-old woman, had biopsyproven nF-1 at the age of 16 years. in 2000, at the age of 28 years, she presented preeclampsia with subsequent fetal death. Six months after the obstetric event, an ischaemic cerebrovascular accident was diagnosed, resulting in mild hemiparesis and disartry. Antiphospholipid antibodies (APA) were not tested at that time. in January 2010 the patient had an acute myocardial infarction requiring angioplasty. igG anticardiolipin (acl) antibodies were present in significant levels (44 GPl). no lupus anticoagulant (lA) was found. Warfarin was therefore started. in May 2010, the patient, although anticoagulated (international normalized ratio 2.5) was re-admitted to our hospital due to a new coronary obstruction. A coronary bypass surgery was recently performed. the igG acl test remained positive (37 GPl). A diagnosis of APS was therefore supported by obstetric morbidity, recurrent arterial thrombosis and laboratory criteria 4. the prevalence of APA in patients with nF-1 is unknown. Only one report on the association of nF-1 with APS has been described to date. the case, published in 1989, concerned a young woman with nF-1 and a history of recurrent fetal loss; the patient developed a cerebrovascular accident and was found to be positive for lA and acl antibodies 5. if intrinsic vascular abnormalities proper of nF-1 predispose to APA and APS, it is plausible. Alternatively, nF-1 and APS might have coexisted by chance in these cases. Our patient with APS developed progressive coronary disease despite of anticoagulation, which brings attention to a persistent endothelial damage perhaps linked to nF-1. the relationship of nF-1 with APS should be clarified in larger casuistics.

Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association?

“…An association of NF1 and APS, a prothrombotic autoimmune disease, is unusually rare. Very few documented cases fulfill the accepted criteria for a diagnosis of APS (Table 1) (4)(5)(6) . The currently accepted criteria for defining APS are the presence of at least one clinical criterion: ≥1 thromboembolic episodes and/or pregnancy morbidity or spontaneous fetal loss and at least one laboratory criterion: presence of lupus anticoagulant (LA), anticardiolipin antibody or anti-β 2 -glycoprotein 1 (IgG and IgM) on two occasions separated by 12 weeks.…”

Neurofibromatosis type I and anti-phospholipid antibody syndrome: Report of one case

“…Though NF1 has been reported in association with systemic lupus erythematosus 6,[11][12][13] , and the presence of cardiolipin antibodies 6 , and despite a close link between systemic lupus erythematosus and APS, it has been reported in association with APS only in two cases 6,14 . The first patient had NF1 since childhood but had not yet developed malignancy.…”

“…He developed multiple ischemic strokes at age 35 being attributed to APS 6 . Though a genetic background also of autoimmune disease is suspected 13,14 , it is questionable if there is a causal relation between NF1 and APS. Arguments for a causal relation are that there are familial cases of APS and that certain polymorphisms are frequently associated with APS 15 .…”