Kosin Med J.  2018 Jun;33(1):105-109. 10.7180/kmj.2018.33.1.105.

Increased arterial stiffness causing resistant hypertension in an adolescent with Neurofibromatosis type 1

• Cho MJ

• KMID: 2415846
• DOI: http://doi.org/10.7180/kmj.2018.33.1.105

Abstract

Neurofibromatosis type 1 is an autosomal dominant genetic disorder characterized by the presence of café au lait spots, axillary and inguinal freckling, Lisch nodules, and neurofibromas. Hypertension is a relatively frequent complication, usually caused by renal artery stenosis or pheochromocytomas. We describe the case of a 15-year-old boy with neurofibromatosis type 1 who was also diagnosed with resistant hypertension. Despite an extensive evaluation, the etiology of his hypertension remained indeterminate. Estimation of the brachial-ankle pulse wave velocity and ambulatory arterial stiffness index could validate the existence of arterial stiffness. Further, a combination of carvedilol and angiotension receptor blockers was administered, which successfully controlled his resistant hypertension. We propose that the estimation of the brachial-ankle pulse wave velocity measure and ambulatory arterial stiffness index is a noninvasive method, and these two parameters are relatively simple tools that can be used for the detection of arterial stiffness due to neurofibromatosis type 1-related vasculopathy.

Keyword

Arterial stiffness; Hypertension; Neurofibromatosis type 1; Vasculopathy

MeSH Terms

Adolescent*
Humans
Hypertension*
Male
Methods
Neurofibroma
Neurofibromatoses*
Neurofibromatosis 1*
Pheochromocytoma
Pulse Wave Analysis
Renal Artery Obstruction
Vascular Stiffness*