Two Cases of Pulmonary Thromboembolism in Young Patients with Hyperhomocysteinemia

MTHFR의 점돌연변이로 인한 과호모시스테인혈증 환자에서 발생한 폐색전증 2예

  • Lee, Wook-hyun (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
  • Park, Cheol-hong (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
  • Ko, Hoon-yung (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
  • An, Ho-jung (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
  • Kwon, Soon Seog (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
  • Kim, Yong Hyun (Department of Internal Medicine, College of Medicine, The Catholic University of Korea)
  • 이욱현 (가톨릭대학교 의과대학 내과학교실 호흡기 및 알레르기 내과) ;
  • 박철홍 (가톨릭대학교 의과대학 내과학교실 호흡기 및 알레르기 내과) ;
  • 고훈영 (가톨릭대학교 의과대학 내과학교실 호흡기 및 알레르기 내과) ;
  • 안호정 (가톨릭대학교 의과대학 내과학교실 호흡기 및 알레르기 내과) ;
  • 권순석 (가톨릭대학교 의과대학 내과학교실 호흡기 및 알레르기 내과) ;
  • 김용현 (가톨릭대학교 의과대학 내과학교실 호흡기 및 알레르기 내과)
  • Received : 2008.05.25
  • Accepted : 2008.06.13
  • Published : 2008.06.30

Abstract

Incidences of pulmonary thromboembolism markedly increase with age. Risk factors of pulmonary thromboembolism are surgery, trauma, acute medical illness, immobilization, pregnancy, usage of hormone, and advanced age. In the cases of thrombomembolism occurred in young age, the possibility of thrombophilc state is needed to be investigated. Among many diseases or state associated thrombophilic state, homocyteinemia should be considered a cause of thromboembolism before fifth decade. Homocyteinemia is caused by deficiency of N-5-methyltetrahydrofolate, cystathionie ${\beta}$-synthase and vitamin B12. The presence of the mutation of 5,10-methyleneterahydrofolate lead to homocyteinemia by deficiency of N-5-methyltetrahydrofolate. Homocysteine is acknowledged the risk factor of cardiovascular event, and storke. Homocysteinemia can be the cause of thromboemboism via damaging endotheial cell. We present two cases of pulmonary thromboembolism in young age which seem to be associated with homocysteinemia precipitated by mutation of 5,10-methyleneterahydrofolate.

저자들은 비교적 젊은 연령이며 호모시스테인혈증이 있는 환자들에서 발생한 폐혈전색전증 및 심부정맥혈전증 2예를 문헌과 함께 고찰하였다. 폐혈전색전증이 연령이 증가할수록 발생률이 증가한다는 점과 다른 위험요소가 존재하지 않는다는 점으로 보아 증례들에서 호모시스테인혈증이 폐혈전색전증을 일으킨 원인으로 보인다. 위험요소가 없으며 젊은 연령에서 생긴 폐혈전색전증에 있어 호모시스테인혈증을 원인의 하나로 고려하여야 할 것이다.

Keywords

References

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