Vasculopathies of Neurofibromatosis Type 1 (von Recklinghausen Disease)

Vasculopathies are the least publicized but most important manifestation of neurofibromatosis type 1 (NF1, or, von Recklinghausen disease) as the cause of morbidity and mortality in children and young adults afflicted with the disease. Occlusive or aneurysmal disease of arteries of all sizes may occur almost anywhere in the body. Coarctation or segmental hypoplasia of the abdominal aorta with or without renal artery ostial stenosis is a common cause of renovascular hypertension. Although rare, occlusive coronary artery disease in NF1 may result in myocardial infarction and sudden unexpected death. Visceral vasculopathy causes ischemic bowel disease; and catastrophic retroperitoneal or abdominal hemorrhage has been attributed to spontaneously ruptured arterial aneurysms. Peripheral vascular disease in NF1 with limb ischemia requiring an amputation is described for the first time here. Scanty information exists in the current pathology literature on NF1 vasculopathies, hence the presentation of this review.