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*

Figure

• 

  Fig. 1. Brachial-ankle pulse wave velocities. Markedly elevated for his age; 1305 cm/s for right and 1390 cm/s for left

Reference

1.Listernick R., Charrow J. Neurofibromatosis type 1 in childhood. J Pediatr. 1990. 116:845–53.

2.Virdis R., Balestrazzi P., Zampolli M., Donadio A., Street M., Lorenzetti E. Hypertension in children with neurofibromatosis. J Hum Hypertens. 1994. 8:395–7.

3.Reisch N., Peczkowska M., Januszewicz A., Neumann HP. Pheochromocytoma: presentation, diagnosis and treatment. J Hypertens. 2006. 24:2331–9.

4.Lama G., Graziano L., Calabrese E., Grassia C., Rambaldi PF., Cioce F, et al. Blood pressure and cardiovascular involvement in children with neurofibromatosis type1. Pediatr Nephrol. 2004. 19:413–8.

5.Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med. 1981. 305:1617–27.

6.Urbina EM., Williams RV., Alpert BS., Collins RT., Daniels SR., Hayman L, et al. Noninvasive assessment of subclinical atherosclerosis in children and adolescents: recommendations for standard assessment for clinical research: a scientific statement from the American Heart Association. Hypertension. 2009. 54:919–50.

7.Payne RA., Wilkinson IB., Webb DJ. Arterial stiffness and hypertension: emerging concepts. Hypertension. 2010. 55:9–14.

8.Simonetti GD., VON Vigier RO., Wühl E., Mohaupt MG. Ambulatory arterial stiffness index is increased in hypertensive childhood disease. Pediatr Res. 2008. 64:303–7.

9.Chen X., Huang B., Liu M., Li X. Effects of different types of antihypertensive agents on arterial stiffness: a systematic review and meta-analysis of randomized controlled trials. J Thorac Dis. 2015. 7:2339–47.