Neurofibromatosis type I and antiphospholipid syndrome

Resumen

Neurofibromatosis type I (NF-1), an autosomal dominant disorder, can be considered as a pseudovasculitis.¹ Vascular abnormalities, mostly aneurysms or stenoses 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, the patient 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 by-pass surgery was recently performed. The IgG aCL test remained positive (37 GPL). APS was confirmed by obstetric morbidity, recurrent arterial thrombosis and laboratory criteria