The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
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Pulmonary Hypertension in Neurofibromatosis Type 1: A Case Report

제1형 신경섬유종증 환자에서 나타난 폐고혈압 1예

  • Na, Soo Jin (Department of Internal Medicine, The Catholic University of Korea College of Medicine) ;
  • Lee, Hye Yeon (Department of Internal Medicine, The Catholic University of Korea College of Medicine) ;
  • Kim, Hyun Seon (Department of Internal Medicine, The Catholic University of Korea College of Medicine) ;
  • Seong, Hyeon Jin (Department of Internal Medicine, The Catholic University of Korea College of Medicine) ;
  • Jeon, Bu Seok (Department of Internal Medicine, The Catholic University of Korea College of Medicine) ;
  • Jeon, Hui Kyung (Department of Internal Medicine, The Catholic University of Korea College of Medicine)
  • 나수진 (가톨릭대학교 의과대학 내과학교실) ;
  • 이혜연 (가톨릭대학교 의과대학 내과학교실) ;
  • 김현선 (가톨릭대학교 의과대학 내과학교실) ;
  • 성현진 (가톨릭대학교 의과대학 내과학교실) ;
  • 전부석 (가톨릭대학교 의과대학 내과학교실) ;
  • 전희경 (가톨릭대학교 의과대학 내과학교실)
  • Received : 2012.10.20
  • Accepted : 2013.01.28
  • Published : 2013.11.01
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Abstract

Neurofibromatosis type I is a genetic disease caused by mutations in the neurofibromin 1 (NF1) gene. Although it is characterized by a number of distinct clinical features, including caf$\acute{e}$ au lait macules, freckling in the axillary or inguinal regions, neurofibromas, and Lisch nodules (iris harmartomas), it can affect all physiological systems in the body [1]. Neurofibromatosis-related pulmonary hypertension has also been reported, and some patients showed a poor prognosis despite having received proper medical treatment [2-4]. We herein describe a case of pulmonary hypertension in a patient with neurofibromatosis type I who had no identified risk factors of pulmonary hypertension. To our knowledge, this is the first such report in Korea.

신경섬유종증과 관련된 폐고혈압은 심각한 기능적, 혈역학적 장애를 초래할 수 있다. 따라서 신경섬유종증 환자에서 호흡곤란, 기절, 피로 등 폐고혈압의 증상이나 징후가 나타난다면 임상의들은 가능한 조기에 심초음파 등의 검사를 하여 폐고혈압을 발견하고 치료를 시작할 수 있도록 해야 한다. 또한 신경섬유종증과 관련된 폐고혈압의 병태생리적 이해를 위해 체계적이고 규모 있는 연구가 필요하며 이를 바탕으로 생존율 향상에 도움이 되는 추가적인 치료법에 대한 논의가 이루어져야 할 것이다.

Keywords

References

  1. Reynolds RM, Browning GG, Nawroz I, Campbell IW. Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. Lancet 2003;361:1552-1554. https://doi.org/10.1016/S0140-6736(03)13166-2
  2. Montani D, Coulet F, Girerd B, et al. Pulmonary hypertension in patients with neurofibromatosis type I. Medicine (Baltimore) 2011;90:201-211. https://doi.org/10.1097/MD.0b013e31821be2b7
  3. Stewart DR, Cogan JD, Kramer MR, et al. Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy? Chest 2007;132:798-808. https://doi.org/10.1378/chest.06-3017
  4. Gumbiene L, Petrulioniene Z, Rucinskas K, et al. Pulmonary hypertension: a fatal complication of neurofibromatosis type 1. Respir Care 2011;56:1844-1848. https://doi.org/10.4187/respcare.01030
  5. Simonneau G, Robbins IM, Beghetti M, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2009;54(1 Suppl):S43-54. https://doi.org/10.1016/j.jacc.2009.04.012
  6. Engel PJ, Baughman RP, Menon SG, Kereiakes DJ, Taylor L, Scott M. Pulmonary hypertension in neurofibromatosis. Am J Cardiol 2007;99:1177-1178. https://doi.org/10.1016/j.amjcard.2006.11.072
  7. Samuels N, Berkman N, Milgalter E, Bar-Ziv J, Amir G, Kramer MR. Pulmonary hypertension secondary to neurofibromatosis: intimal fibrosis versus thromboembolism. Thorax 1999;54:858-859. https://doi.org/10.1136/thx.54.9.858
  8. McLaughlin VV, Archer SL, Badesch DB, et al. ACCF/ AHA 2009 expert consensus document on pulmonary hypertension: a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association: developed in collaboration with the American College of Chest Physicians, American Thoracic Society, Inc., and the Pulmonary Hypertension Association. Circulation 2009;119:2250-2294. https://doi.org/10.1161/CIRCULATIONAHA.109.192230
  9. Rosenfeld A, Listernick R, Charrow J, Goldman S. Neurofibromatosis type 1 and high-grade tumors of the central nervous system. Childs Nerv Syst 2010;26:663-667. https://doi.org/10.1007/s00381-009-1024-2
  10. Merlo CA, Studer SM, Conte JV, Yang SC, Sonnett J, Orens JB. The course of neurofibromatosis type 1 on immunosuppression after lung transplantation: report of 2 cases. J Heart Lung Transplant 2004;23:774-776. https://doi.org/10.1016/S1053-2498(03)00265-1