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Revista médica de Chile

Print version ISSN 0034-9887

Rev. méd. Chile vol.138 no.12 Santiago Dec. 2010 

Rev Med Chile 2010; 138: 1562



Neurofbromatosis type I and antiphospholipid syndrome

Neurofbromatosis tipo I y síndrome antifosfolípidos


Caroline Z. Xavier de Freitas1, MD., Melissa Cláudia Bisi1, MD., Leonardo Sinnott Silva2, MD., Luiz Carlos Bodanese2, MsC, PhD., Henrique Luiz Staub1, MsC, PhD.

1Rheumatology Department 2Cardiology Department Faculty of Medicine, São Lucas Hospital, Pontifical Catholic University of Rio Grande do Sul (PUCRS), Porto Alegre, Brazil

Dirección para Correspondencia

To the Editor:

Neurofbromatosis 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 patients2. 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 biopsy proven 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 hemi paresis 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 by-pass 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 criteria4.

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 ac-cident and was found to be positive for lA and acl antibodies5.

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 clarifed in larger casuistics.



1. Staud R, Yancey Wb Jr, Williams Rc Jr. "Vasculitis look-alike" clinical syndromes. J Clin Rheumatol 1996; 2: 203-8.        [ Links ]

2. Oderich GS, Sullivan TM, bower TC, Gloviczki P, Miller DV, Babovic-Vuksanovic D, et al. Vascular abnormalities in patients with neurofbromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg 2007; 46: 475-84.        [ Links ]

3. Espinosa G, Cervera R. Antiphospholipid syndrome: frequency, main causes and risk factors of mortality. Nat Rev Rheumatol 2010; 6: 296-300.        [ Links ]

4. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006; 4: 295-306.        [ Links ]

5. Carr ME Jr, Howe CW. Lupus anticoagulant and cerebrovascular accident in a patient with neurofbromatosis. South Med J 1989; 82: 921-3.        [ Links ]


Corresponding author: Henrique Luiz Staub. Rheumatology Department, São Lucas Hospital. Pontifical Catholic University of Rio Grande do Sul (PUCRS). Av. Ipiranga 6690/220. Porto Alegre, Brazil. Telefone: (55) (51) 3320 5057 CEP: 90610-000 E-mail:

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